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Gene: Zbtb16 MGI:103222

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Gene Summary

Name:
zinc finger and BTB domain containing 16
Synonyms:
Zfp145,  Green's luxoid,  PLZF

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal hindlimb morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.26×10-07
abnormal auditory brainstem response Zbtb16em1(IMPC)Mbp HOM   Early adult 2.88×10-06
decreased total body fat amount Zbtb16em1(IMPC)Mbp HOM Early adult 2.98×10-06
abnormal digit morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.32×10-12
small testis Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal gait Zbtb16em1(IMPC)Mbp HOM Early adult 2.78×10-20
cataract Zbtb16em1(IMPC)Mbp HOM   Early adult 5.05×10-07
hyperactivity Zbtb16em1(IMPC)Mbp HOM Early adult 9.33×10-10
enlarged heart Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
small liver Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Zbtb16em1(IMPC)Mbp HOM Early adult 1.60×10-06
abnormal spleen morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Zbtb16em1(IMPC)Mbp HOM Early adult 6.10×10-09
small spleen Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Zbtb16em1(IMPC)Mbp HOM Early adult 3.06×10-06
abnormal liver morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Zbtb16em1(IMPC)Mbp HOM Early adult 2.26×10-15
abnormal vitreous body morphology Zbtb16em1(IMPC)Mbp HOM   Early adult 6.00×10-07
abnormal optic disk morphology Zbtb16em1(IMPC)Mbp HOM Early adult 2.60×10-09
abnormal autopod morphology Zbtb16em1(IMPC)Mbp HOM Early adult 1.26×10-07
abnormal brain morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Zbtb16em1(IMPC)Mbp HOM Early adult 0.00
corneal opacity Zbtb16em1(IMPC)Mbp HOM   Early adult 2.77×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

1 Images

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Human diseases caused by Zbtb16 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Zbtb16 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acute Promyelocytic Leukemia
Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, Leukopenia,... ORPHA:520

The table below shows human diseases predicted to be associated to Zbtb16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 17
Male infertility OMIM:617214
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Broad Terminal Phalanges, Familial
Broad distal phalanx of the toes, Broad distal phalanx of finger OMIM:602071
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Abn... OMIM:616849
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Cervical Rib
Cervical ribs OMIM:117900
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Abnormality of the vertebral column, Upper limb phocom... ORPHA:294975
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... ORPHA:3320
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism OMIM:615988
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of... OMIM:119650
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S... OMIM:618167
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, Iliac crest s... ORPHA:93317
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Tibial Torsion, Bilateral Medial
Scoliosis, Bowing of the legs, Tibial torsion OMIM:188800
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Labial hypoplasia, Short 2nd toe, Cuboid-shaped vertebral bod... ORPHA:1326
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Abnormal clavicle morphology, Bilateral single transverse palmar crea... ORPHA:1453
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Talipes, Clinodactyly of the 5th finger, Cubitus v... ORPHA:1836
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Scholte Syndrome
Kyphoscoliosis, Acromicria, Patellar hypoplasia, Decreased testicular size, Micropenis, Short foo... OMIM:300977
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches... ORPHA:1263
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, Short metacar... OMIM:132400
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Cousin Syndrome
Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contract... OMIM:260660
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... OMIM:184255
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Blount Disease, Adolescent
Bowing of the legs, Genu varum OMIM:259200
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Otoonychoperoneal Syndrome
Ankle flexion contracture, Straight clavicles, Hip contracture, Knee flexion contracture, Aplasia... OMIM:259780
Atelosteogenesis Type Iii
Short tubular bones of the hand, Thoracic hypoplasia, Abnormal cervical curvature, Absent radius,... ORPHA:56305
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Elevated circulating l... OMIM:305400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx OMIM:618724
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Smith-Mccort Dysplasia 2
Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin... OMIM:615222
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Scoliosis, Micrognathia, Patellar hypoplasia, Hypogonadism OMIM:251240
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Kuskokwim Syndrome
Abnormal clavicle morphology, Talipes, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... ORPHA:1149
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, Increased serum testosterone level, Abnormal vagina morphology, Abnormality of th... ORPHA:247768
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Absent sternal ossification, Pectus carinatum, Short ribs, Coxa valga, Genu... OMIM:224690
Mosaic Trisomy 8
Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis... ORPHA:96061
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Pes cavus, External genital hypoplasia, Patellar hypoplasia, Patellar subluxation... ORPHA:3041
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... OMIM:164745
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Talipes calcane... OMIM:265000
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Penoscrotal Transposition
Penoscrotal transposition, Bilateral single transverse palmar creases, Clinodactyly of the 5th fi... ORPHA:2842
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ... ORPHA:90652
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Short neck OMIM:168400
Ectrodactyly-Polydactyly
Split foot, Split hand, Postaxial hand polydactyly OMIM:225290
Bardet-Biedl Syndrome 10
Polydactyly, Hypogonadism OMIM:615987
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the... ORPHA:566943
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic a... OMIM:607326
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Nail-Patella Syndrome
Abnormal femur morphology, Spondylolysis, Spondylolisthesis, Dislocated radial head, Pectus excav... ORPHA:2614
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Gordon Syndrome
Talipes, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Pectus excavatum, Camptoda... ORPHA:376
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Male ... ORPHA:99330
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Amelia, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Recombinant 8 Syndrome
Bilateral single transverse palmar creases, Deep plantar creases, Clinodactyly of the 5th finger,... ORPHA:96167
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle... OMIM:161200
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Narrow chest, Scoliosis, Short metacarpal, Kyphosis, M... OMIM:180870
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sacral dimpl... OMIM:206920
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Bowing of the long bones, Short lower l... ORPHA:2501
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Micrognathia,... OMIM:311895
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Platyspondyly ORPHA:168555
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Young Syndrome
Azoospermia OMIM:279000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Narrow chest, Scoliosis, Short long bone, Brachydactyly OMIM:613819
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Me... ORPHA:85198
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Pectus excavatum, Long fibula ORPHA:935
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Meier-Gorlin Syndrome 3
Breast hypoplasia, Clitoral hypertrophy, Patellar hypoplasia, Talipes equinovarus, Hypospadias, S... OMIM:613803
ERI1-related disease
Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, Narrow chest... OMIM:608739
Clark-Baraitser syndrome
Genu valgum, Genu recurvatum, Scoliosis, Kyphosis, Short palm, Macroorchidism, Broad palm, Tapere... OMIM:300602
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Roberts Syndrome
Bilateral single transverse palmar creases, Clitoral hypertrophy, Radial deviation of finger, Mes... ORPHA:3103
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Kyphosis, Lateral femoral b... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio... OMIM:610442
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... OMIM:618150
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Disorganization, Mouse, Homolog Of
Hand polydactyly, Limb duplication, Sacral meningocele, Hip dislocation OMIM:223200
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Hypogonadism, Clinodactyly OMIM:615984
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Hypoplasi... OMIM:602875
Prenatal Bowing
Bowing of the long bones OMIM:264050
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal clavicle morphology, Butterfly vertebr... ORPHA:958
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ... OMIM:618728
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Platysp... ORPHA:93304
Congenital Vertical Talus
Rocker bottom foot, Abnormality of the foot musculature, Equinus calcaneus, Achilles tendon contr... ORPHA:178382
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Breast hypoplasia, Slender long bone, Genu recurvatum, Micrognathia, Patel... OMIM:613804
Mccune-Albright Syndrome
Decreased fertility, Abnormal femur morphology, Increased serum testosterone level, Scoliosis, Ab... ORPHA:562
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
9Q33.3Q34.11 Microdeletion Syndrome
Fixed elbow flexion, Patellar hypoplasia, Single transverse palmar crease, Bilateral coxa valga, ... ORPHA:495818
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Microg... OMIM:258860
Meier-Gorlin Syndrome 5
Slender long bone, Elbow dislocation, Prominent metopic ridge, Hypoplasia of the capital femoral ... OMIM:613805
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Megalencephaly
Short neck, Genu valgum, Macroorchidism, Long penis ORPHA:2477
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Seckel Syndrome 1
Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Cone-shaped epiphy... OMIM:210600
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Fryns-Smeets-Thiry Syndrome
Scoliosis, Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation ORPHA:2058
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Short ribs, Short metacarpal, Abnormal forearm bone morphology, Mesomelia, ... ORPHA:3404
Genitopatellar Syndrome
Clitoral hypertrophy, Knee flexion contracture, Hypoplastic ilia, Hypoplastic ischia, Short palm,... ORPHA:85201
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Li-Campeau Syndrome
Patellar hypoplasia, Single transverse palmar crease, Hypothyroidism, Patent ductus arteriosus, C... OMIM:619189
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Carpenter Syndrome
Polydactyly, Kyphoscoliosis, Genu valgum, External genital hypoplasia, Craniosynostosis, Finger s... ORPHA:65759
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Abnormality of the endocrine system, Short fourth metatarsal, Pseudohypopara... ORPHA:464288
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Fragile X Syndrome
Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Scoliosis, Macroorchidis... OMIM:300624
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Clinodactyl... OMIM:610313
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Decreased circulating... OMIM:146510
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Long penis, Abnormal sacrum morphology, Scoliosis,... ORPHA:1988
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys... OMIM:602557
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae,... OMIM:620076
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Narrow chest, Scoliosis... ORPHA:140
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Sh... OMIM:151200
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Short thumb, Chorioretinal coloboma, Cataract,... OMIM:274205
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Alg6-Cdg
Scoliosis, Shortening of all distal phalanges of the fingers, Brachydactyly, Increased circulatin... ORPHA:79320
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:271700
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Thoracic hypo... ORPHA:56304
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ... ORPHA:163966
Exostoses, Multiple, Type Ii
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular exostoses, Short metaca... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular exostoses, Short metaca... OMIM:133700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delayed os... OMIM:618395
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Single transverse palmar crease, Scoliosis, Elbow flexion contracture, Ulnar ... OMIM:108120
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal foot morphology, Abnormal vertebral morphology, Spina bifida occul... ORPHA:64754
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec... ORPHA:628
49,Xxxyy Syndrome
External genital hypoplasia, Male hypogonadism, Increased circulating gonadotropin level, Narrow ... ORPHA:261534
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Scoliosis, Bowing of the long bones ORPHA:53697
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing... OMIM:249710
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Lujan-Fryns Syndrome
Scoliosis, Pectus excavatum, Camptodactyly of finger, Arachnodactyly, Micrognathia, Brachydactyly... ORPHA:776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... ORPHA:1106
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Pectus carinatum, Pectus excavatum, Epiphyseal dysplasia, Clinodactyly,... OMIM:607131
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal ve... ORPHA:1427
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
17Q23.1Q23.2 Microdeletion Syndrome
Bilateral single transverse palmar creases, Pes planus, Sacral dimple, Clinodactyly of the 5th fi... ORPHA:261279
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Supernumerary nipple,... OMIM:263750
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Scoliosis, Tapered finger, Pectus excavatum, Short neck, Polycystic ovaries, ... ORPHA:284180
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... ORPHA:63446
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Pectus carinatum, Pectus excavatum, Short phalanx of finger, Brachydactyly, Clinoda... OMIM:614684
Feingold Syndrome Type 2
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly ORPHA:391646
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... ORPHA:314795
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Hypoplasia of peni... ORPHA:2554
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Tapered finger, Macroorchidism OMIM:300706
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Clinodactyly of the 5th finger, Hypospadias, Hypergonad... ORPHA:163971
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Meier-Gorlin Syndrome 2
Breast hypoplasia, Clitoral hypertrophy, Slender long bone, Labial hypoplasia, Camptodactyly, Mic... OMIM:613800
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Slender long bone, Hydrocele testis, Co... ORPHA:96181
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... OMIM:611717
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Arthritis, Arthropathy, Decreased libido, Infertility, Testicular atrophy, ... ORPHA:465508
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs OMIM:162370
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... ORPHA:957
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2091
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Clinodactyly of the 5th finger, Hype... ORPHA:163976
Bardet-Biedl Syndrome 22
Polydactyly, Hypogonadism, Postaxial foot polydactyly OMIM:617119
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Brachydactyly, Short distal phalanx of the 3rd finger, Sh... ORPHA:79445
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Increased ci... OMIM:300869
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Neuralgic Amyotrophy
Sprengel anomaly, Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Single transverse palmar crease, Scoliosis, Ulnar deviation of the hand or of fin... OMIM:114300
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Kyphoscoliosis, Butterfly vertebrae, Narrow che... OMIM:200980
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Squared-off platyspondyly, Abnormal vertebral morphology, Platyspondyly, Vert... ORPHA:93352
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Micrognathia, Split hand OMIM:183700
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Nephronophthisis 15
Polydactyly OMIM:614845
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Pes cavus, Scoliosis, Wrist flexion contracture, Micrognathia, Short neck, Male h... OMIM:300055
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radi... OMIM:612350
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Premature ovarian insufficiency, Pate... ORPHA:221008
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br... OMIM:113300
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Sandal gap, Short middle ... OMIM:616835
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Micrognathia, Supernumerary ribs, Pes p... OMIM:619122
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... OMIM:601356
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p... ORPHA:380
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187601
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization, Coronal cle... ORPHA:1952
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar... ORPHA:95699
Vertical Talus, Congenital
Rocker bottom foot, Equinus calcaneus, Calcaneovalgus deformity OMIM:192950
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long... ORPHA:85167
Bardet-Biedl Syndrome 16
Polydactyly, External genital hypoplasia, Hypogonadism OMIM:615993
Desbuquois Dysplasia 2
Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Knee... OMIM:615777
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... OMIM:218600
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Oligodactyly, Ectrodactyly ORPHA:3016
Wolfram Syndrome 1
Diabetes insipidus, Hypothyroidism, Limited mobility of proximal interphalangeal joint, Diabetes ... OMIM:222300
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Short thorax, Scoliosis, Pectus excavatum, Ov... OMIM:619451
Feingold Syndrome 2
2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, Short thumb, Shor... OMIM:614326
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Thin ribs, Short ribs, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Three M Syndrome 3
Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Short thorax, Hype... OMIM:614205
Pseudoleprechaunism Syndrome, Patterson Type
Kyphoscoliosis, Abnormal odontoid process morphology, Long foot, Genu valgum, Delayed pubic bone ... ORPHA:2976
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s... OMIM:617866
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers OMIM:619489
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Pectus carina... ORPHA:3082
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... ORPHA:1436
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t... OMIM:616300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Ring Chromosome 21 Syndrome
Azoospermia, Diabetes insipidus, Scoliosis, Infertility, Narrow palm, Syndactyly, Thoracic hemive... ORPHA:1445
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Pes cavus, Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreas... OMIM:308700
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Scolio... OMIM:190351
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Genitopatellar Syndrome
Clitoral hypertrophy, Hypoplastic ischia, Small scrotum, Patellar dislocation, Enlarged labia min... OMIM:606170
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Abnormal femoral ... ORPHA:1822
Schneckenbecken Dysplasia
Lateral clavicle hook, Platyspondyly, Narrow chest, Snail-like ilia, Short ribs, Flat acetabular ... OMIM:269250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular vertebral endp... OMIM:612847
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Hypoplastic labia m... ORPHA:64755
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Scoliosis, Absent phalangeal crease, Ulnar deviation of the hand or of finger... OMIM:601680
Monosomy 5P
Finger syndactyly, Scoliosis, Microretrognathia, Short neck, Small hand ORPHA:281
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involving bones of... ORPHA:221016
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Oligodactyly, Clinodactyly of the 5th finger, Short foot OMIM:619758
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Narrow chest, Increased intervertebral space, ... OMIM:618961
Nivelon-Nivelon-Mabille Syndrome
Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short... OMIM:600092
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Enlar... OMIM:600081
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Pectus excavatum, Enlarged joints, Limb undergrowth, Thoracic hypoplasia... ORPHA:156728
Hypomelanosis Of Ito
Radial deviation of finger, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Clinodactyly OMIM:300337
Rapadilino Syndrome
Aplasia/Hypoplasia of the patella, Absent thumb, Aplasia/Hypoplasia of the radius, Joint dislocation OMIM:266280
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sacral dimple, Hypospadias, Sandal gap, Scoliosis, Hyperlordosis,... OMIM:615761
Acrodysostosis
Abnormal female external genitalia morphology, Abnormal femur morphology, Abnormal form of the ve... ORPHA:950
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Abnormal hip bone morphology, Ver... ORPHA:2631
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... OMIM:617926
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Maternal Uniparental Disomy Of Chromosome X
Rocker bottom foot, Cubitus valgus, Azoospermia, Scoliosis, Camptodactyly of finger, Short neck, ... ORPHA:261519
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Talonavicular Coalition
Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm... OMIM:186750
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr... OMIM:612921
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Long thorax, Genu valgum, Limb undergrowth OMIM:619142
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Flexion contracture of toe, EEG with occipital epileptiform discharges, Gait ataxi... OMIM:619323
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sho... ORPHA:88630
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Narrow che... ORPHA:1190
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Hypospadias, Narrow chest, Hypoplasia of penis, Abnor... ORPHA:1703
Microduplication Xp11.22P11.23 Syndrome
Pes cavus, Pes planus, Toe syndactyly ORPHA:217377
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum, Irregular f... OMIM:255710
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Patchy distortion of vertebrae, Vertebral clefting OMIM:155050
Tibial Hemimelia
Absent tibia OMIM:275220
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal foot morphology, Abnormal shoulder morphology, Abnormal femoral neck/head morphology, Ab... ORPHA:85438
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, L... ORPHA:2370
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Bilateral talipes equinovarus, Supernumerary ribs, Cryptorchidism, Patellar ... ORPHA:2958
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Joubert Syndrome 18
Kyphoscoliosis, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, T... OMIM:614815
Cocaine Embryofetopathy
Short distal phalanx of finger, Thoracoabdominal eventration ORPHA:1911
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Platyspondyly, Multip... OMIM:259440
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Mesomelia, Hypoplastic vertebral bodies, Thoracic ... OMIM:215140
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Abnormal rib morphology, Brachydactyly ORPHA:2643
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short middle phalanx of the 5th finger, Short middle phalanx of finger, Hip dysplasia, Abnormal e... ORPHA:63442
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Hypospadias, Pectus carinatum, Pectus excavatum, Camptodactyly, Abnormality of th... ORPHA:3063
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Scoliosis, Clinodactyly, Syndactyly OMIM:619091
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses... OMIM:300232
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Bowin... ORPHA:85166
9Q21.13 Microdeletion Syndrome
Polydactyly, Talipes, Scoliosis, Vertebral segmentation defect, Gray matter heterotopia, Hip dysp... ORPHA:531151
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Kyph... ORPHA:2232
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Short phalanx of finger, Spinal canal stenosis, Brachydactyly... OMIM:614613
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... ORPHA:90795
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Cubitus valgus, Azoospermia, Hypergonadotropic hypogonadism, Abnormality of... ORPHA:2183
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyn... OMIM:263520
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Corneal opacity, Hepatomegaly, Thrombocytopenia ORPHA:1980
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Pectus carinatum, Scoliosis, Hyperlordosis, Sho... ORPHA:77258
1Q21.1 Microduplication Syndrome
Hypospadias, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Failur... ORPHA:250994
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Abnormal heart valve morphology, Abnormality of... ORPHA:93476
Rabson-Mendenhall Syndrome
Polydactyly, Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperi... ORPHA:769
Grant Syndrome
Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Abnormal rib morp... ORPHA:2097
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Decreased fertility, Testicular atrophy OMIM:313200
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypogonadism OMIM:615985
Joubert Syndrome 23
Polydactyly OMIM:616490
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe, Inability to walk OMIM:618572
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb, Finger syndacty... ORPHA:1825
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Hypospadias, Breast aplasia, Dislocated radial head, Aplasia/Hypoplasia of ... OMIM:617063
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... OMIM:300244
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... ORPHA:971
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,... ORPHA:1406
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morpholog... ORPHA:2234
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... OMIM:157900
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Hypospadias, Pectus carinatum, Pectus excavatum, Six lumbar verte... ORPHA:65286
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Aniridia-Absent Patella Syndrome
Aplasia/Hypoplasia of the patella, Cryptorchidism ORPHA:1069
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Atrial septal defect, Jaundice, Hepatomegaly, Anemia, Sensorineur... ORPHA:290
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly, Short neck ORPHA:221054
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic girdle bone mo... OMIM:166210
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Short ribs, Flat acetabular roof, Bowing of the long ... OMIM:614091
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Inguinal hernia, Corneal opacity, Low-set ears, Visceromegaly, Heari... ORPHA:93399
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Opsismodysplasia
Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic bone, Scolio... OMIM:258480
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic ischia, Hypoplastic pel... ORPHA:2616
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno... OMIM:307800
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger, Lower limb asymmetry ORPHA:231140
Greenberg Dysplasia
Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificatio... ORPHA:1426
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Cone-shaped epiphysis, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Oligo... OMIM:614813
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c... OMIM:263650
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... OMIM:212780
Hemochromatosis, Type 1
Azoospermia, Arthropathy, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism... OMIM:235200
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Gait disturbance, Ataxia, Spastic ataxia, Developmental cataract ORPHA:2572
Nievergelt Syndrome
Pes cavus, Genu valgum, Tarsal synostosis, Metatarsus adductus, Mesomelia, Radioulnar synostosis,... OMIM:163400
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod... ORPHA:85165
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Absent distal phalanges, Kypho... OMIM:618658
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tibial bowing,... OMIM:156550
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Image Syndrome
Hypospadias, Adrenal hypoplasia, Micromelia, Metaphyseal dysplasia, Hypogonadism, Cryptorchidism ORPHA:85173
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Ruvalcaba Syndrome
Delayed puberty, Clinodactyly of the 5th finger, Proximal placement of thumb, Narrow chest, Abnor... ORPHA:3121
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T... OMIM:211350
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Abnormal vagina morphology, Abnormal mal... ORPHA:813
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Barrel-shaped chest, Scoliosis, Pectus excavatum, Bowing of the arm, Coxa var... OMIM:619131
Weaver Syndrome
Abnormal metaphysis morphology, Pes cavus, Sandal gap, Finger syndactyly, Scoliosis, Broad thumb,... ORPHA:3447
Charcot-Marie-Tooth Disease, Type 4B3
Scoliosis, Pes planus, Distal lower limb muscle weakness, Syndactyly OMIM:615284
Bardet-Biedl Syndrome 19
External genital hypoplasia, Y-shaped metacarpals, Postaxial polydactyly, Hypogonadism, Patent du... OMIM:615996
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Micrognathia, Syndactyly, Brachydacty... OMIM:600325
Kallmann Syndrome With Spastic Paraplegia
Pes cavus, Decreased circulating follicle stimulating hormone concentration, Decreased circulatin... OMIM:308750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Scoliosis, Kyphosis, Brachydactyly, Hip dysplasia, Short distal phalanx o... ORPHA:1858
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited... OMIM:277590
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia ORPHA:2513
Hypophosphatasia
Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long bones, Narrow chest ORPHA:436
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Laron Syndrome
Short long bone, Delayed menarche, Limb undergrowth, Abnormal joint morphology, Decreased serum i... OMIM:262500
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Platyspondyly, Short thorax, Pectus carinatum, Scoli... ORPHA:582
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
48,Xyyy Syndrome
Pes planus, Abnormal foot morphology, Azoospermia, Dislocated radial head, Radioulnar synostosis,... ORPHA:99329
Intellectual Developmental Disorder, X-Linked 9
Short distal phalanx of finger OMIM:309549
Say-Barber-Miller Syndrome
Patellar hypoplasia, Ankle clonus, Scoliosis, Thoracic kyphoscoliosis, Ulnar deviation of the han... ORPHA:3132
Joubert Syndrome 16
Polydactyly OMIM:614465
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Scol... ORPHA:1520
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Coxa valga, Cervi... OMIM:253000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy, Progressive cerebellar ataxia, Ataxia ORPHA:3177
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Short ribs, Short humerus,... OMIM:607143
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Microgastria-Limb Reduction Defect Syndrome
Abnormal metacarpal morphology, Abnormal finger morphology, Amelia, Oligodactyly, Ectrodactyly, A... ORPHA:2538
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... ORPHA:1827
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Gapo Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Asymmetry of the thorax, Abnormal f... ORPHA:2067
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Cutaneous finger syndactyly, Thoracic kyphoscoliosis, Short middle phalanx of the 5th finger, Hip... OMIM:203550
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Pectus excavatum, Short 4th metacarpal... ORPHA:1772
Meckel Syndrome, Type 8
Polydactyly, Narrow chest, Short neck, Ambiguous genitalia, Talipes equinovarus OMIM:613885
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, EEG abnormality, Corneal opacity, Hypertrophic cardiomyopathy, Developmental catarac... OMIM:618815
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly ORPHA:2956
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Synostosis... ORPHA:90650
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty... ORPHA:2557
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Micrognathia, Short neck, Short ... ORPHA:93298
Sheldon-Hall Syndrome
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Scol... ORPHA:1147
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Carpal synostosis, Metacarpophalangeal synostosis, Aplasia/H... OMIM:186400
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar... OMIM:600383
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Hypoplasia of peni... ORPHA:2377
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Corneal opacity, Carpal osteolysis OMIM:277950
Pde4D Haploinsufficiency Syndrome
Caudal interpedicular narrowing, Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, ... ORPHA:439822
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Pes cavus, Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly OMIM:619092
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Barrel-shaped chest, Hypoplastic iliac wing, Scoliosis, Kyphosis, Coxa vara,... OMIM:313400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Pes cavus, Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Broa... OMIM:619721
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Wilson Disease
Elevated circulating hepatic transaminase concentration, Increased body weight, Acute hepatic fai... ORPHA:905
Joubert Syndrome 27
Polydactyly OMIM:617120
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Single transverse palmar ... OMIM:619297
Congenital Sialidosis Type 2
Optic atrophy, Polydactyly, Hepatomegaly, Inguinal hernia, Yellow/white lesions of the retina, Co... ORPHA:93400
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormal rib mor... ORPHA:2876
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Wiedemann-Rautenstrauch Syndrome
Short humerus, Long toe, Delayed closure of the anterior fontanelle, Clinodactyly, Genu varum, Lo... OMIM:264090
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Acrootoocular Syndrome
Kyphoscoliosis, Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Pectus excavat... ORPHA:2980
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Hearing impairment, Ataxia, Splenomegaly, Flexion... ORPHA:87876
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Mesomelic/rhizomelic limb shortenin... ORPHA:2347
Erythrokeratodermia Variabilis
Protruding ear, Corneal opacity, Abnormal testis morphology, Hearing impairment, Patchy palmoplan... ORPHA:317
Trisomy 20P
Abnormal foot morphology, Platyspondyly, Hypospadias, Abnormal hip bone morphology, Abnormal form... ORPHA:261318
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Fing... ORPHA:2311
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... ORPHA:2050
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... ORPHA:1422
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Arthrogryposis, Distal, Type 5D
Limited elbow movement, Scoliosis, Hyperlordosis, Elbow flexion contracture, Calcaneovalgus defor... OMIM:615065
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior... OMIM:255800
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Cataract, Optic disc pallor OMIM:165300
Ring Chromosome 6 Syndrome
Short distal phalanx of finger, Short neck ORPHA:1448
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Scoliosis, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, ... OMIM:616266
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Thyroid hypoplasia, Broad thumb, Small scrotum, Polydactyly ... ORPHA:672
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Narrow chest, Vertebral compression fracture, Thin ribs,... OMIM:613848
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphol... ORPHA:2180
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Distal Deletion 17Q
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal metacarpal morpho... ORPHA:1597
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Slc35A2-Cdg
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Sco... ORPHA:356961
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Mesoaxial Hexadactyly And Cardiac Malformation
Hand polydactyly, Abnormal 3rd finger morphology OMIM:249670
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, S... OMIM:608940
Holzgreve Syndrome
Hand polydactyly OMIM:236110
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Enlar... OMIM:241530
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Abnormal rib morphology, Micromelia, Abnormality of neuronal migration, Ambi... ORPHA:2772
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Brachydact... OMIM:610017
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly, Hypsarrhythmia, Low-set ears, Flexion contracture, Self-mutilation, ... OMIM:300884
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Amelia, Foot oligodactyly OMIM:601357
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, Y-shaped metacarpals, Broad... OMIM:175700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Abnormal thumb morphology, Macroorchidism ORPHA:324410
Morm Syndrome
Retinal dystrophy, Truncal obesity, Hyperactivity, Retinal atrophy, Cataract, Micropenis, Aggress... ORPHA:75858
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Knee dislocation, Short me... OMIM:150250
Pseudopseudohypoparathyroidism
Short neck, Short metacarpal, Short metatarsal, Brachydactyly OMIM:612463
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Sensorineural hearing impairment, Progressive hearing impairment, Hear... OMIM:614296
Joubert Syndrome 7
Postaxial polydactyly, Scoliosis, Genu valgum, Postaxial hand polydactyly OMIM:611560
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Scoliosis, Bowing of the long b... ORPHA:166272
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Flared metaphysis, Wormian bones, Short ribs, Decreased fibular diameter, Short neck... OMIM:616897
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Phocomelia, Vertebral segmentation defect, Split hand ORPHA:3004
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconvex vertebral bodies, Hypoplastic iliac wing, Pectus carinatum, Short long bone, Tibial bowi... ORPHA:93315
Baller-Gerold Syndrome
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... ORPHA:1225
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Pectus carinatum, Short palm, Shield chest, Atlantoaxial instability... OMIM:184095
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Narrow chest, Broad mid... OMIM:618853
Joubert Syndrome 33
Syndactyly OMIM:617767
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones OMIM:114000
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... OMIM:615994
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Optic disc pallor, Hearing impai... OMIM:617087
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Congenital bilateral hip dislocation, Hyperactivity, Cataract, Increas... ORPHA:85288
Achondroplasia
Narrow greater sciatic notch, Cervical spinal canal stenosis, Short proximal phalanx of finger, L... ORPHA:15
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis, Pes cavus, Genu recurvatum, Split hand, Hypergonadotropic hypogonadism, Decreased... OMIM:604168
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me... ORPHA:440354
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Hypoplastic isc... OMIM:200600
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia, Spina bifida occulta ORPHA:1514
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Galactosialidosis
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,... OMIM:143095
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Achondrogenesis, Type Ii
Short tubular bones of the hand, Abnormal foot morphology, Barrel-shaped chest, Hypoplastic iliac... OMIM:200610
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Spastic gait, Delayed puberty, Optic nerve hypoplasia, Peripheral axonal neuropath... ORPHA:496790
Ollier Disease
Abnormal metaphysis morphology, Platyspondyly, Precocious puberty, Micromelia ORPHA:296
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, ... ORPHA:93324
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis OMIM:618155
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Pes planus, Calcaneovalgus deformity, Pectus excavatum OMIM:225320
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Narrow chest, Vertebral compression fracture, Angulated humerus, Short long bone, Bow... OMIM:616229
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Micromelia, Osteoarthritis, Abnormal epiphysis morphology ORPHA:93283
Alpha-Mannosidosis
Chronic otitis media, Hepatomegaly, Inguinal hernia, Abnormal helix morphology, Corneal opacity, ... ORPHA:61
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Pect... OMIM:618870
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Pfeiffer Syndrome Type 1
Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad thumb, Short palm, Hallux... ORPHA:93258
Achondrogenesis Type 1A
Narrow chest, Short thorax, Micromelia, Short palm, Micrognathia, Multiple rib fractures, Short n... ORPHA:93299
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615226
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Abnorm... ORPHA:1842
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Lon... OMIM:210720
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly ORPHA:2145
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Bilateral coxa valga, Hypertrophic cardiomyopathy, Hearing impairment, Obesity, At... OMIM:620270
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Pterygium, Short long bone, Short ribs... ORPHA:1865
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Urogenital sinus anomaly, Pectus excavatum, Abnormal ri... ORPHA:2970
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Clinodactyly ORPHA:251046
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Elevated circulating hepatic transaminase concentration, Optic nerve hypoplas... OMIM:301056
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Radial bowing, Lim... OMIM:605432
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Abnormal vitreous humor morphology, Abnormal femoral neck/head morp... ORPHA:2788
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Enlar... OMIM:264700
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Atlantoaxial abnormality, Short humerus, Hypoplastic vertebral bodies, Long toe, ... ORPHA:3455
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand OMIM:603543
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Bifid scrotum, Ectrodactyly, Microphall... ORPHA:397590
Martsolf Syndrome 1
Talipes valgus, Slender ulna, Talipes equinovarus, Pectus carinatum, Short metacarpal, Pectus exc... OMIM:212720
Gm1 Gangliosidosis
Corneal opacity, Cardiomyopathy, Abnormal heart morphology, Ataxia, Splenomegaly, Dysphagia, Abno... ORPHA:354
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis... OMIM:201000
48,Xxyy Syndrome
Abnormal shoulder morphology, Clinodactyly of the 5th finger, Talipes, Hypoplasia of penis, Azoos... ORPHA:10
Ectodermal Dysplasia With Mental Retardation And Syndactyly
2-3 toe syndactyly, 3-4 finger syndactyly OMIM:600906
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyl... ORPHA:2928
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Abnormal hip bone morphology, Inguinal hernia, Abnormal heart v... ORPHA:577
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Pes cavus, Upper limb undergrowth, Kyphosis, Short 3rd metacar... OMIM:169400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Tibial... ORPHA:251028
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Scoliosis, Po... OMIM:252100
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Micromelia, Micrognat... OMIM:215045
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Hand poly... ORPHA:2167
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:607361
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Calcaneovalgus deformity, Camptodactyly, Pectus excavatum, Metatarsus adductus, A... OMIM:612513
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Steppage gait, Decreased sensory nerve conduction velocity, Hammertoe, Hearing imp... OMIM:609260
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Hypergon... ORPHA:2959
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri... ORPHA:2759
Periventricular Nodular Heterotopia 1
Short finger, Clinodactyly, Syndactyly OMIM:300049
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology ORPHA:261272
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... OMIM:601957
Garg-Mishra Progeroid Syndrome
Platyspondyly, Narrow chest, Slender long bone, Thin ribs, Micrognathia, Ovoid vertebral bodies, ... OMIM:620601
X-Linked Intellectual Disability, Hedera Type
Scoliosis, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of lower limbs, Pes pla... ORPHA:93952
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microretrognathi... ORPHA:2994
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Clinodactyly of the 5th finger, Knee flexion contracture, 2-3 toe syndactyly, Elbow flexion contr... OMIM:616809
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap OMIM:612916
Campomelia, Cumming Type
Bowing of the long bones, Abnormal rib morphology, Micromelia, Abnormally ossified vertebrae, Clu... ORPHA:1318
Meckel Syndrome, Type 2
Polydactyly, Postaxial hand polydactyly, Bowing of the long bones OMIM:603194
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad... OMIM:613684
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Central diabetes insipidus, Progressive cerebellar ataxia, Depres... ORPHA:411590
Multiple Synostoses Syndrome 4
Tarsal synostosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus OMIM:617898
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Abnormal foot morphology, Abnormal diaphysis morphology, Overtub... ORPHA:85184
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Hyperlordosis, Synostosis of carpal bones, Bro... ORPHA:710
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology... ORPHA:2522
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
Complete duplication of thumb phalanx, Shortening of all distal phalanges of the fingers, Short 5... OMIM:106995
Joubert Syndrome 37
Prominent metopic ridge, Postaxial polydactyly, Decreased testicular size, Cryptorchidism, Microp... OMIM:619185
2Q31.1 Microdeletion Syndrome
Sandal gap, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal ... ORPHA:251014
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Kyphos... ORPHA:3409
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Fused thoracic ... OMIM:618469
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Narrow chest, Short thorax, Broad toe... OMIM:218330
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Cantú Syndrome
Abnormal metaphysis morphology, Deep plantar creases, Platyspondyly, Narrow chest, Short hallux, ... ORPHA:1517
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metacarpal osteolysis, Wrist swelling, Carpal osteolysis, Inabil... OMIM:166300
Harel-Yoon Syndrome
Optic atrophy, Inability to walk, Peripheral axonal neuropathy, Corneal opacity, Hypertrophic car... OMIM:617183
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Sex reversal, Fibular bowing, Hypospadias, ... OMIM:612651
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait, Ankle flexion contracture, Flexion contracture of toe, Knee flexion ... ORPHA:320396
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Sensorineural hearing impairment, Corneal opacity, Posterior e... ORPHA:1473
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm... ORPHA:536532
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae OMIM:309620
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Ambiguous genitalia, Lissencephaly, Bilateral talipes equinovarus, Postaxia... OMIM:618142
Poland Syndrome
Aplasia of the pectoralis major muscle, Asymmetry of the thorax, Abnormal sternum morphology, Pec... ORPHA:2911
Houge-Janssens Syndrome 2
Scoliosis, Pectus excavatum, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hi... OMIM:616362
Adams-Oliver Syndrome 6
Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Meckel Syndrome, Type 10
Sacral dimple, Hypospadias, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Uln... OMIM:614175
Osteogenesis Imperfecta, Type Iii
Slender long bone, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Biconcave vertebral bodies, Pro... OMIM:259420
Xylt1-Cdg
Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Broad ribs,... ORPHA:370930
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Hyperactivity, Sensorineural hearing impairment, ... ORPHA:581
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Onion bulb formation, Sensor... OMIM:601455
Lesch-Nyhan Syndrome
Podagra, Testicular atrophy, Hip dislocation OMIM:300322
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology OMIM:602196
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... ORPHA:2491
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Autosomal Recessive Spastic Paraplegia Type 46
Pes cavus, Abnormal sperm head morphology, Scoliosis, Infertility, Decreased testicular size, Red... ORPHA:320391
Ravine Syndrome
Anorexia, Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Ataxia ORPHA:99852
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Corneal opacity, Broad thumb, Abno... ORPHA:585
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Hammertoe, Axonal... OMIM:601596
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the an... OMIM:277440
Arthrogryposis, Distal, Type 4
Equinovarus deformity, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transve... OMIM:609128
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Protruding ear, Myopic astigmatism, Retinal detachment, Mi... OMIM:152950
Cornelia De Lange Syndrome
Delayed puberty, Bilateral single transverse palmar creases, Proximal placement of thumb, Hypopla... ORPHA:199
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Hypergonadotropic hypogo... OMIM:248800
C Syndrome
Clitoral hypertrophy, Radial deviation of finger, Patent ductus arteriosus, Dislocated radial hea... OMIM:211750
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Osteo... ORPHA:243
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Cubitus valgus, Intrahepatic... OMIM:214110
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sensorineural hearing impa... OMIM:618958
Zellweger Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Clitoral hypertrophy, Jaundice, Hepatomegaly, H... ORPHA:912
Nescav Syndrome
Optic atrophy, Inability to walk, Peripheral axonal neuropathy, Ataxia, Flexion contracture, Tali... OMIM:614255
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, M... ORPHA:2249
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Bipartite cal... OMIM:608545
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... OMIM:609638
Chromosome 3Q29 Deletion Syndrome
Clinodactyly of the 5th finger, Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Long fingers,... OMIM:609425
Curry-Jones Syndrome
Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, Preaxial hand pol... ORPHA:1553
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Hypoplasia of penis, Pectus carinat... ORPHA:3068
Mucopolysaccharidosis, Type Ivb
Genu valgum, Platyspondyly, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Bilateral tali... OMIM:253010
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Corneal opacity, Synostosis of carpal bones, Megalocornea, Micromelia,... ORPHA:2741
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Delayed ossification of carpal bones, Waddling gait, Decreased body weight, Macr... OMIM:618392
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation... ORPHA:1323
Achondrogenesis Type 2
Delayed pubic bone ossification, Narrow chest, Short long bone, Short ribs, Hypoplastic ilia, Mic... ORPHA:93296
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, In... ORPHA:1145
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal diaphysis morphology, Narrow chest, Slender long bone, Clubbing of fingers, Abnormal for... ORPHA:73230
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly ORPHA:313781
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Rhizomelia, Irregular epiphyses, Barrel-shaped chest, Broad thumb, Mesomelia, Metap... OMIM:612813
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Micrognathia, Pectus excavatum, Ulnar deviation of finger ORPHA:2013
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Micrognathia, Short distal phalanx of finger, T... ORPHA:1512
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Plantar pits, Palmar pits, Vertebral wedging, ... OMIM:109400
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Elevated circulating hepatic transaminase concen... OMIM:300280
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Hypospadias, Pectus excavatum, Abnorma... ORPHA:3242
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Broad palm, Rhizomelia, Short ... OMIM:166250
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Vacuolated lymphocyt... OMIM:204200
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Gray matter heterotopia, Cryptorchidism, Mesomelic leg shortening, Syndactyl... OMIM:603671
48,Xxxy Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Azoospermia, Scoliosis, Infertility, Elbow d... ORPHA:96263
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Limitation of knee mobility, Delayed pubic bone ossification, Delayed cal... OMIM:183900
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Ovoid vertebral bodi... ORPHA:583
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment, Corneal... ORPHA:90654
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Peripheral axonal neuropathy, Sensorineural hearing impairment, EEG ab... OMIM:617519
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valga OMIM:601370
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Short metacarpal, Hearing impairment, Short thumb, Chorioretinal c... ORPHA:2489
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis... ORPHA:177
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormality of t... ORPHA:2063
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe OMIM:600430
Hereditary Bullous Dystrophy, Macular Type
Short finger, External genital hypoplasia, Corneal opacity, Decreased testicular size, Abnormal h... ORPHA:1867
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... ORPHA:508533
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Gait dist... ORPHA:812
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Talipes, Genu recurvatum, Finger syndactyly, Single transverse pa... ORPHA:915
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Micromelia, Micrognathia, Th... OMIM:224410
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Patent ductus arteriosus... ORPHA:2655
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
16P13.11 Microduplication Syndrome
Arachnodactyly, Pes planus, Pectus excavatum, Hand polydactyly ORPHA:261243
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Short metacarpal,... OMIM:103580
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggr... OMIM:619470
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Leber Congenital Amaurosis 1
Hepatomegaly, Eye poking, Optic disc drusen, Keratoconus, Sensorineural hearing impairment, Fundu... OMIM:204000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Macroorchidism OMIM:300886
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l... OMIM:225500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Adult onset sensorineural hearing impairmen... ORPHA:329314
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Polymicrogyria, Pectus excavatum, Adducted thumb, Macroorchidism OMIM:618874
Cooper-Jabs Syndrome
Proximal placement of thumb, Abnormal hip bone morphology, Scoliosis, Abnormal rib morphology, Mi... ORPHA:1488
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo... ORPHA:1657
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Abno... ORPHA:503
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Abnormal digit morphology, Hearing impairmen... ORPHA:208441
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... OMIM:217085
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Unsteady gait, Cataract OMIM:620312
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Premature pubarche, Decreased nerve conduction velocity, Inability t... ORPHA:457205
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-m... OMIM:256550
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly OMIM:235740
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Slender long bone, Thin ribs, Short palm, Short foot, Small hand OMIM:244460
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Hypoplastic labia majora, Mesomelia, Bifid distal phala... ORPHA:97360
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth ORPHA:1423
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retroversion, Thi... OMIM:610915
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy... ORPHA:69085
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:1112
Cockayne Syndrome A
Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Retinal atrophy, Ab... OMIM:216400
Kbg Syndrome
Finger clinodactyly, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, Cervical ribs... ORPHA:2332
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Prominent ear helix, Recurrent hand fla... ORPHA:100973
3P25.3 Microdeletion Syndrome
Sacral dimple, Proximal placement of thumb, Scoliosis, Broad thumb, Postaxial polydactyly, Microg... ORPHA:435638
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, 2-3 toe syndactyly, Scoliosis, Kyphosis, Lower limb asymmetry, Po... ORPHA:404440
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly OMIM:239710
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Gorlin Syndrome
Plantar pits, Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Ovarian fibroma, Sco... ORPHA:377
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia, Clinodactyly OMIM:300928
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Prominent metopic ridge, Postaxial polydactyly, Micrognathia, Overlapping toe, Cry... OMIM:613792
49,Xxxxy Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Azoospermia, Scoliosis, Infertility, Elbow d... ORPHA:96264
Temtamy Preaxial Brachydactyly Syndrome
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... ORPHA:363417
Aromatase Deficiency
Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enl... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Pectus excavatum, Broad thumb, Arachnodactyly, Micrognat... OMIM:309520
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Abnormal vertebr... ORPHA:352540
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... OMIM:184460
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Bell-shaped thorax, Delayed epiphyseal ossification, Metaphyseal ... OMIM:613320
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Prolonged neonatal jaundice, Abnormal atri... ORPHA:909
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Epiphyseal stippling, Elevated circulating aspartate aminotransferase con... OMIM:614876
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Pes cavus, Abnormal vertebral morphology, Abnormal metacarpal morphology, Short hallux, Finger sy... ORPHA:3224
Cleidocranial Dysplasia
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:1452
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs, Preaxial hand polydactyly, Talipes equi... OMIM:601389
Trisomy 13
Bilateral single transverse palmar creases, Narrow chest, Scoliosis, Postaxial hand polydactyly, ... ORPHA:3378
Say Syndrome
Short distal phalanx of finger, Micrognathia, Tapered finger, Ulnar deviation of the 3rd finger OMIM:181180
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Joint contracture of the 5th finger, Hyperactivity, Low-set ears, Compulsive beh... ORPHA:352490
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Elbow dislocati... ORPHA:93329
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Progressive cerebellar ataxia, Gait ataxia, Hepatosplenomegaly, Acute hepatic fail... ORPHA:466794
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Scoliosis, Femoral bowing, Shor... OMIM:616723
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Scoliosis, Cryptorchidism, Ankle clonus ORPHA:565624
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Depression, Emotional lability, Compulsive behaviors, Impulsivity, G... ORPHA:216873
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Ethanolaminosis
Cardiomegaly OMIM:227150
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Short ribs, Postaxial hand polydactyly, Micromelia, Micrognathia, Toe s... OMIM:241800
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Patent foramen ovale, Low-set ears, Hypoplastic spleen, Dysphagia, Abnormal r... ORPHA:89844
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Ambiguous genitalia, Finger syndactyly, Scoliosis, Split hand, Bifid scrotum... ORPHA:1300
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Irritability, Depression, Macular degeneration, Vacuolated lymphocytes, Ataxia, Fl... OMIM:256730
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Flared metaphysis, Scoliosis, Coxa valga, Broad long bones, Broad ri... OMIM:269300
Aniridia And Absent Patella
Aplasia/Hypoplasia of the patella OMIM:106220
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Sensorineural hearing impairment, Hypergonadotropic hypog... ORPHA:3085
Arteriosclerosis, Severe Juvenile
Short phalanx of finger, Dysplasia of second lumbar vertebra, Hip dysplasia OMIM:208060
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Micrognathia, Brachydactyly, Slender long bone OMIM:618265
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:264470
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P... ORPHA:175
Hand-Foot-Genital Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... ORPHA:2438
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Broad thumb, Aplasi... ORPHA:2662
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Pes cavus, ... ORPHA:168563
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Patent ductus arteriosus, Narrow chest, Short greater sciatic not... ORPHA:1860
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of... OMIM:619135
Gómez-López-Hernández Syndrome
Low-set ears, Corneal opacity, Ataxia ORPHA:1532
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Decreased response to growth hormone stimulation test, Abnormal tricuspid v... ORPHA:485405
Autosomal Recessive Spastic Paraplegia Type 26
Scoliosis, Pes cavus, Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia OMIM:149000
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hand metaphysis morphology, Abnormal metacarpophalangeal joint morphology, Retinal thinn... ORPHA:166011
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Hypergastrinemia, Opacification of the corneal stroma, Retinal de... OMIM:252650
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... OMIM:302960
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Butterfly vertebrae, Rhizomelia, Hypospadias... OMIM:611209
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Abnormality of the calcaneus, Micrognathia... ORPHA:40366
Bardet-Biedl Syndrome 1
Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular... OMIM:209900
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Pancytopenia, Depression, Corneal opacity, Hepatosplenomegaly, Ataxia, ... ORPHA:309288
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short long bone, Short ribs, Split hand, Ky... OMIM:252600
Fragile X Syndrome
Pes planus, Scoliosis, Macroorchidism ORPHA:908
Hypophosphatemic Rickets, X-Linked Recessive
Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the an... OMIM:300554
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Spina bifida occulta, Abnormal form of the vertebral bodies, Finger syndact... ORPHA:1787
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Corneal arcus, Flexion contracture of toe, Joint contracture of the 5th finge... OMIM:602782
Antley-Bixler Syndrome
Talipes, Narrow chest, Femoral bowing, Abnormal rib morphology, Camptodactyly of finger, Arachnod... ORPHA:83
Long Qt Syndrome 8
Syndactyly OMIM:618447
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Abnormal heart morphology, Ataxia, Syndactyly, Umbilical hernia, EEG abnormality, ... ORPHA:369891
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Broad finger, Decreased response to growth hormone stimulation test, Decreased cirrculating antim... OMIM:300845
Mulibrey Nanism
Hepatomegaly, Astigmatism, Single transverse palmar crease, Corneal dystrophy, Pericardial constr... OMIM:253250
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Irregular epiphyses, Geographic atrophy, Sensorineural hearing impairment, Abno... OMIM:619260
Alpha-Methylacyl-Coa Racemase Deficiency
Depression, Cataract, Hypergonadotropic hypogonadism, Ataxia, Abnormality of the liver, Rod-cone ... OMIM:614307
Oculocerebrocutaneous Syndrome
Talipes, Finger syndactyly, Polymicrogyria, Abnormal rib morphology, Congenital hip dislocation, ... ORPHA:1647
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndactyly, 2-4 finger syndact... OMIM:613573
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Narrow chest, Short thorax, Kyphosis, Micromelia, Abnormality of ... ORPHA:93274
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Pes cavus, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism,... OMIM:157640
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger ORPHA:2776
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Pectus e... OMIM:312870
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Decreased response to growth hormone stimulation test, Hypos... ORPHA:444077
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Broad finger, Astigmatism, Abnormal auditory evoked potentials, Abnormality of visual evoked pote... OMIM:617523
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Hypertrophic cardiomyopathy, Broad thumb, Cataract, EEG abnormality, Optic disc p... ORPHA:3173
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opacity, Flat ac... OMIM:271530
Wiedemann-Steiner Syndrome
Sacral dimple, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Short phalanx of fi... OMIM:605130
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microcornea, Optic disc pallor, Retinopathy, Cataract, Macular atrophy, Talipes eq... OMIM:616171
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Scoliosis, Vertebral clefting, Aplasia/Hypoplasia of the distal p... ORPHA:1248
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dermoids Of Cornea
Corneal opacity OMIM:304730
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Short sternum, Postaxial foot polydactyly OMIM:258850
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Myhre Syndrome
Abnormal metaphysis morphology, Epispadias, External genital hypoplasia, Platyspondyly, Hypospadi... ORPHA:2588
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Finger syndactyly, Long palm, Scoliosis, Pectus excavatum, Kyphosis, Hemiatrophy, ... ORPHA:2215
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Con... ORPHA:2519
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Hyperactiv... ORPHA:3306
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Thoracic scoliosis, Kyphosis, Knee flexion contracture OMIM:603387
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Tapered finger, Camptodactyly of finger, Aplasia/Hypoplasia of the distal p... ORPHA:3201
Cleidocranial Dysplasia 2
Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification of carpal bon... OMIM:620099
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Codas Syndrome
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Scoliosis, Short ... OMIM:600373
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly... OMIM:600920
Vacterl/Vater Association
Hypospadias, Abnormal intervertebral disk morphology, Hypoplasia of penis, Finger syndactyly, Abn... ORPHA:887
Mucopolysaccharidosis Type 2
Hyperactivity, Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Impulsivity, Re... ORPHA:580
Cockayne Syndrome B
Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp... OMIM:133540
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Cockayne Syndrome Type 1
Optic atrophy, Scarring, Difficulty walking, Anemia, Hepatomegaly, Foot joint contracture, Elevat... ORPHA:90321
Lethal Congenital Contracture Syndrome 10
Narrow chest, Short long bone, Femoral bowing, Thoracic scoliosis, Short neck, Micrognathia, Broa... OMIM:617022
Hurler Syndrome
Corneal opacity, Cardiomyopathy, Flared iliac wing, Enlarged tonsils, Splenomegaly, Umbilical her... OMIM:607014
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... ORPHA:453510
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Hyperactivity, Abnormal heart mor... DECIPHER:39
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal metaphysis morphology, Chronic otitis media, Abnormal aortic valve morpho... ORPHA:579
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Broad thumb, Hearing impairment, Broad hallux, Splenomegaly, Ataxi... OMIM:272200
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability, Hyporeflexia of upper limbs, Hearing impairment, Failure to thrive, ... OMIM:609056
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morphology, Thoracic hypoplasia, C... ORPHA:397715
Rhombencephalosynapsis
Polydactyly, Finger syndactyly, Short phalanx of finger, Microretrognathia, Complete duplication ... ORPHA:59315
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl... OMIM:101600
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Genu valgum, Sandal gap, Genu recurvatum, Hallux valgus, Absent phalangeal crease... ORPHA:230851
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Alagille Syndrome
Delayed puberty, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Butterfly vertebral arch... ORPHA:52
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Microretrognathia, Brachydactyly, Cryptorchidism, C... OMIM:618950
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Corneal opacity, Hypogonadism, Attention deficit hyperactivi... ORPHA:281090
Cach Syndrome
Optic atrophy, Limb ataxia, Gonadal dysgenesis, Irritability, Pancreatitis, Premature ovarian ins... ORPHA:135
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme... ORPHA:3015
Cofs Syndrome
Optic atrophy, Sensorineural hearing impairment, Camptodactyly of finger, Abnormality of retinal ... ORPHA:1466
Cartilage-Hair Hypoplasia
Limited elbow extension, Asymmetry of the thorax, Narrow chest, Metaphyseal cupping, Scoliosis, F... OMIM:250250
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Mosaic Trisomy 9
Rocker bottom foot, Abnormal liver lobulation, Hypoplasia of penis, Corneal opacity, Hip dislocat... ORPHA:99776
Kury-Isidor Syndrome
Rocker bottom foot, Sacral dimple, Proximal placement of thumb, Finger syndactyly, Scoliosis, Bra... OMIM:619762
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Narrow chest, Short long bone, Short ribs, B... OMIM:224400
Mogs-Cdg
Optic atrophy, Hepatomegaly, External genital hypoplasia, Sensorineural hearing impairment, Inapp... ORPHA:79330
Bardet-Biedl Syndrome 12
Polydactyly, Hypogonadism, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Clinodactyly of the 5th finger, Hypsarrhythmia, Sensorineural hearing impairm... OMIM:617201
X-Linked Hypophosphatemia
Genu valgum, Enlargement of the costochondral junction, Vertebral hyperostosis, Bowing of the lon... ORPHA:89936
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Sandal gap, Dislocated radial head, Prominent fingertip pads, Aplasia of th... OMIM:135900
Developmental And Epileptic Encephalopathy 95
Ataxia, Umbilical hernia, Cardiomegaly, Short distal phalanx of finger, Thickened helices, Short ... OMIM:618143
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Metaphyseal striations, Aplasia/Hypoplasia of the patella, Infertility, A... ORPHA:2909
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Fasting... ORPHA:2298
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal epiphysis... ORPHA:772
3Mc Syndrome 3
Preaxial polydactyly, Sacral dimple, Penoscrotal hypospadias, Bifid scrotum, Radioulnar synostosi... OMIM:248340
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Asymmetry of the thorax, Finger syndactyly, Scoliosis, Pectus excavatum, Kyphosis, Genu varum ORPHA:1969
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Atrial septal defect, Hypospadias, Microvesicular hepatic steatosis, Noncompaction... OMIM:610198
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Jaundice, Hepatomegaly, Gait imbalance, Elevate... ORPHA:79239
Sclerosteosis 1
Sclerotic vertebral endplates, Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation... OMIM:269500
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Rocker bottom foot, Low-set ears, Arthrogryposis multiplex congenita, Hand clenchi... OMIM:618766
Cri-Du-Chat Syndrome
Hyperactivity, Abnormal pinna morphology, Short metacarpal, Syndactyly, Aggressive behavior, Opti... OMIM:123450
Filippi Syndrome
Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly, Finger clinodactyly OMIM:272440
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of... OMIM:193700
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Optic atrophy, Broad finger, Dysphagia, Restlessness, Exudative vitreoretinopathy, Small for gest... OMIM:615075
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Ankle flexion contracture, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:608799
Sponastrime Dysplasia
Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Mesomelia, Metaphyseal irregularity,... ORPHA:93357
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Equinovarus deformity, Triphalangeal thumb, Calcaneovalgus deformity, Congeni... ORPHA:3078
Riboflavin Transporter Deficiency
Diabetes insipidus, Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Progr... ORPHA:97229
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Abnormality of the hand, Steppage gait, Proximal muscle weakness in upper limbs, Dec... ORPHA:101085
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, La... OMIM:619269
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Brachydactyly, Flared metaphysis OMIM:602361
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Mesomelia, Meta... OMIM:271510
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyl... OMIM:236500
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the distal phalange... OMIM:190350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract, Ventricular septal defect, Optic disc pallor OMIM:613730
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... ORPHA:2496
Mend Syndrome
Hyperactivity, 2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Aortic valv... ORPHA:401973
Microphthalmia With Brain And Digit Anomalies
Proximal placement of thumb, Retinal dystrophy, Finger syndactyly, Sensorineural hearing impairme... ORPHA:139471
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Narrow chest, Tibial bowing, Femoral bowing, Kyphosis, Mesomelia, Lumbar hyperlordosi... OMIM:616482
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Epiphyseal stippling, Single transverse palmar crease, Hearing impair... ORPHA:251009
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Difficulty walking, Dec... ORPHA:206443
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Barrel-shaped chest, Broad thumb, Mesomelia, Brachydactyly, Short neck, Lumbar hyperl... ORPHA:171866
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Scoliosis, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, Campt... ORPHA:562528
Hurler Syndrome
Hepatomegaly, Abnormal diaphysis morphology, Abnormal nerve conduction velocity, Abnormality of t... ORPHA:93473
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels,... OMIM:204100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Clitoral hypertrophy, Sensorineural hearing impairment, Prolonged neonatal ja... OMIM:214100
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Postaxial polydactyly, Hypogonadism, Hypopitui... OMIM:615849
Senior-Loken Syndrome
Premature ovarian insufficiency, Retinal dystrophy, Abnormality of retinal pigmentation, Ataxia, ... ORPHA:3156
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Genu valgum, Cubitus valg... OMIM:216550
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Cataract ORPHA:79238
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Walker-Warburg Syndrome
Optic atrophy, Protruding ear, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retina... ORPHA:899
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, 2-3 toe syndactyly, Truncus arteriosus, Ventricular septal defect, Lo... OMIM:617516
Trisomy 1Q
Long foot, Ambiguous genitalia, Small scrotum, Short thorax, Abnormal rib morphology, Arachnodact... ORPHA:261344
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Hypoplastic acetabulae, Flared iliac wing, Ataxia, Splenomegaly, Cherry red spot of... OMIM:230650
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal pelvic ... ORPHA:1834
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Preaxial polydactyly, Hepatomegaly, Hyperactivity, Low frustration tole... ORPHA:163681
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Platyspondyly, Scoliosis, Limb undergrowth, Brachydactyly, Abnorm... ORPHA:2107
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration, Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Inability to walk by childhood/adolescence, Paresis of extensor muscles of the big... ORPHA:99947
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Camptodactyly, Camptodactyly... OMIM:300963
Roifman-Chitayat Syndrome
Short neck, Cone-shaped epiphysis, Short metatarsal, Short metacarpal OMIM:613328
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the hand, Abnormal vertebral morphology, Abnormality of the vertebral column, Olig... ORPHA:2273
Martsolf Syndrome 2
Decreased body weight, Camptodactyly, Camptodactyly of finger, Macrotia, Developmental cataract, ... OMIM:619420
Warburg Micro Syndrome 1
Optic atrophy, External genital hypoplasia, Microcornea, Low-set ears, Macrotia, Failure to thriv... OMIM:600118
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Primary Pulmonary Hypoplasia
Micrognathia, Patellar hypoplasia ORPHA:2257
Fucosidosis
Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Hearing impairment, H... ORPHA:349
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Syndactyly, Missing ribs OMIM:220210
Microlissencephaly-Micromelia Syndrome
Bilateral single transverse palmar creases, Abnormal circulating calcium-phosphate regulating hor... ORPHA:50810
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Corneal opacity, Wrist flexion contracture, Broad metatarsal, Mitral va... OMIM:259600
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease... OMIM:311900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anorexia, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Failure to thrive, T... ORPHA:79312
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Syno... ORPHA:1005
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Depression, Optic neuritis, Sensory axonal neuropathy, Cardiomyopathy, Shuffling g... ORPHA:254886
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Sacral dimple, Clinodactyly of the 5th finger, Deep palmar crease, Single transverse... OMIM:247200
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... OMIM:308050
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Micrognathia, Short dista... OMIM:180860
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Depression, Emotional lability, Impulsivity, Gait ataxia, EEG with ... ORPHA:98818
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal vertebral morphology, Anterior hypopituitarism, Abnormal rib... ORPHA:280195
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo... OMIM:619557
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Failure to thrive, Splenomegaly, Metaphyseal irregularity, ... OMIM:269920
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t... OMIM:612469
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ... ORPHA:198
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Pectus carin... OMIM:614701
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Aggressive behavior, Hypospadias, Sandal gap, Hyperactivity, Emotional lability,... OMIM:300354
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Dysdiadochokinesis, Gait ... ORPHA:98890
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Farber Disease
Short finger, Abnormality of the hand, Abnormality of the wrist, Anemia, Lymphadenopathy, Elevate... ORPHA:333
Choanal Atresia
Polydactyly ORPHA:137914
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Hyperextensibility o... OMIM:231070
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the p... ORPHA:2990
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... ORPHA:319675
Aspartylglucosaminuria
Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beaking of lumbar vertebrae,... ORPHA:93
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Tip-toe gait, Decreased liver function, Retinal dystrophy, Gait ataxia, Failure to... OMIM:614877
Kbg Syndrome
Epispadias, Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar ... OMIM:148050
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly OMIM:119580
Marinesco-Sjögren Syndrome
Optic atrophy, External genital hypoplasia, Abnormal metacarpal morphology, Abnormal finger morph... ORPHA:559
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... ORPHA:246
Neonatal Adrenoleukodystrophy
Optic atrophy, Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Sen... ORPHA:44
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Narrow chest, Short ribs, Hypoplastic ilia, Microm... OMIM:600972
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Corneal opacity, Aortic valve stenosis, Arachnodactyly, Polydactyly, Breast hypopl... ORPHA:464306
Cystinosis
Polydipsia, Delayed puberty, Corneal opacity, Portal hypertension, Gait disturbance, Retinopathy,... ORPHA:213
Prune1-Related Neurological Syndrome
Optic atrophy, Inability to walk, Low-set ears, Hypertrophic cardiomyopathy, Bilateral talipes eq... ORPHA:544469
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Gait disturbance, Camptodactyly of finger, Flexion contracture,... ORPHA:272
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Anemia, Inguinal hernia, Sensorineural hearing impairment, Athetosis, ... ORPHA:2719
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Small hand OMIM:616489
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Premature ovarian insufficiency, Difficulty walking, Depression, Peripheral axonal... OMIM:619425
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Faciocardiomelic Syndrome
Polydactyly, Narrow chest, Slender long bone, Hypoplastic pelvis, Micrognathia, Cuboid-shaped ver... OMIM:612731
Meckel Syndrome 14
Talipes, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the long bones, Postaxial p... OMIM:619879
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Limb ataxia, Increased hepatic glycogen content, Depression, Truncal ataxia, Cardi... OMIM:619259
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal form of the vertebral b... ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho... ORPHA:536471
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Short-Rib Thoracic Dysplasia 12
Short long bone, Short ribs, Short finger, Short thorax, Short palm, Patent ductus arteriosus, Hy... OMIM:269860
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Aortic valve stenosis, Flexion contracture of finger, Astigmatism, Hypospadias, ... ORPHA:464311
4H Leukodystrophy
Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit... ORPHA:289494
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive, Choreoathetosis, Dysphagia OMIM:271930
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Micromelia, Vertebral clefting, Sho... OMIM:241500
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Corneal opacity, Hypoplastic pelvis, Split foot, Upper limb asym... ORPHA:2092
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Dent Disease 1
Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the an... OMIM:300009
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Low-set ears, Gait disturbance, Ab... ORPHA:2971
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Genu valgum, Dislocated radial head, C1-C2 vertebral abnormality, Scoliosi... OMIM:182212
Short Syndrome
Abnormal anterior chamber morphology, Inguinal hernia, Abnormal dental enamel morphology, Sensori... ORPHA:3163
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadi... ORPHA:1875
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Retinal detachment, Hyperacti... OMIM:182290
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Broad hallux, Short 5th finger, Cu... OMIM:600987
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Scoliosis, Pectus excavat... ORPHA:2886
Acrocraniofacial Dysostosis
Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Spina bifida occulta, Abnormal fo... ORPHA:949
Nance-Horan Syndrome
Broad finger, Short phalanx of finger OMIM:302350
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Sensorineural hearing impairme... OMIM:310600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Tarsal synostosis, Barrel-shaped chest, Spondylolisthesis, Pectus... OMIM:178110
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Abnormality of the vertebral column, Epiphyseal stippling OMIM:302950
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap ORPHA:217017
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Atrial septal defect, Sensorineural hearing impairment, Ca... OMIM:249270
Pyknoachondrogenesis
Short iliac bones, Abnormal iliac wing morphology, Short thorax, Short long bone, Short ribs, Enl... ORPHA:3003
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Overlapping toe, Sacrococc... ORPHA:221120
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Short neck, Thickened cortex o... ORPHA:488434
Frank-Ter Haar Syndrome
Kyphoscoliosis, Flared metaphysis, Broad clavicles, Anterior concavity of thoracic vertebrae, Sho... OMIM:249420
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, B... OMIM:272460
Acrofacial Dysostosis, Catania Type
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... ORPHA:1786
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Athetosis, Elevated circulating alanine aminotransferas... OMIM:271245
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Sensorineural hearing impairment, Cholestasis, Splenomegaly, Optic nerve dy... OMIM:614866
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Narrow chest, Clubbing, Postaxial hand polydactyly, ... OMIM:619143
Acrofacial Dysostosis 1, Nager Type
Radial deviation of finger, Absent thumb, Absent radius, Overlapping toe, Clinodactyly, Hip dislo... OMIM:154400
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Athetosis, Failure to thrive, Ataxia, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Inability to walk, Hypsarrhythmia, Dysphagia, Optic disc pallor OMIM:617086
Coxoauricular Syndrome
Abnormal femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia ORPHA:1508
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Kyphoscoliosis, Sacral dimple, Camptodactyly, Broad t... OMIM:616331
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Melnick-Needles Syndrome
Limited elbow extension, Kyphoscoliosis, Genu valgum, Osteolytic defects of the phalanges of the ... OMIM:309350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Scoliosis, Hemivertebrae, Pectus excavatum, Congenital hip dislocation, Syndactyly OMIM:104350
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Sensorineural hearing impairment, Patent foramen ovale, Ventri... OMIM:618652
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Delayed puberty, Absence of secondary sex characteristics, Decreased response to gro... ORPHA:95494
Multiple Pterygium Syndrome, X-Linked
Short finger, Thin ribs, Micrognathia, Abnormal cervical curvature, Vertebral fusion OMIM:312150
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Short phalanx of finger,... OMIM:608612
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Ataxia, Splenomegaly, Leukopenia, Hypogonad... ORPHA:1328
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Single transverse palmar crease, Ectrodactyly, Split foot... ORPHA:2437
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Oliver Syndrome
Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Postaxial hand polydactyly, ... ORPHA:2920
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Mucolipidosis Type Iv
Corneal opacity, Gait disturbance, Retinopathy, Abnormality of retinal pigmentation, Ataxia, Palm... ORPHA:578
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Hypospadias, Spina bifida occulta, Flared metaphysis, Knee flexion co... OMIM:151050
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Car... OMIM:252920
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Narrow chest, Polymicrogyria, Short ribs, Micromelia, Postaxial polydactyly... OMIM:616546
Refsum Disease, Classic
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Short fourth metatarsal, Ataxia, ... OMIM:266500
Diencephalic Syndrome
Optic atrophy, Long penis, Cachexia, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Narrow chest, 2-3 toe syndactyly, Postaxial polydactyly, Micrognathia, 2-... OMIM:614099
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Constricting Bands, Congenital
Scoliosis, Hand polydactyly, Syndactyly, Abnormal rib cage morphology, Talipes equinovarus OMIM:217100
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Cryptorchidism OMIM:615824
Pfeiffer Syndrome Type 2
Deviation of the thumb, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux ... ORPHA:93259
Van Maldergem Syndrome 2
Bifid scrotum, Subcortical band heterotopia, Clinodactyly, Short 4th metacarpal, Sacral dimple, H... OMIM:615546
Ring Chromosome 12 Syndrome
Abnormal 5th finger morphology, Pectus excavatum, Symphalangism of the thumb, Syndactyly, Clinoda... ORPHA:1439
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, ... ORPHA:3301
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Developmental glaucoma, Atrioventricular canal defect, Hypospadi... ORPHA:2409
Bartsocas-Papas Syndrome
Talipes, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia,... ORPHA:1234
8P11.2 Deletion Syndrome
Sacral dimple, Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:251066
Hsd10 Mitochondrial Disease
Optic atrophy, Agitation, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Restless... OMIM:300438
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De... OMIM:201750
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Low-set ears, Elevated circulating alani... OMIM:620609
Short Stature-Micrognathia Syndrome
Astigmatism, Rhizomelia, Small scrotum, Penoscrotal hypospadias, 2-3 toe syndactyly, Ventricular ... OMIM:617164
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Pes cavus, Abnormality of thyroid physiology, Sacral dimple, Abnormal cortical gyration, Patent d... OMIM:300968
Orofaciodigital Syndrome V
Sandal gap, Scoliosis, Postaxial hand polydactyly, Unilateral cryptorchidism, Postaxial polydacty... OMIM:174300
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly,... OMIM:614800
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmon... OMIM:620141
Monosomy 9Q22.3
Polydactyly, Palmar pits, Abnormality of the vertebral column, Ovarian fibroma, Metopic synostosi... ORPHA:77301
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Abnormally ossified... ORPHA:800
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly, Micromelia OMIM:273680
Mirage Syndrome
Rocker bottom foot, Radial club hand, Anemia, Hypospadias, Adrenal hypoplasia, Decreased body wei... OMIM:617053
De Barsy Syndrome
Progressive cerebellar ataxia, Inguinal hernia, Athetosis, Corneal opacity, Ventricular septal de... ORPHA:2962
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Kne... ORPHA:435938
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Delayed puberty, Genu valgum, Underdeveloped superior crus... ORPHA:293967
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Clinodactyly of the 5th finger, Bruxism, Bilateral sensorineural hearing impairmen... OMIM:619422
Mend Syndrome
Polydactyly, Sacral dimple, 2-3 toe syndactyly, Kyphosis, Long fingers, Micrognathia, Broad hallu... OMIM:300960
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Meckel Syndrome
Pancreatic fibrosis, Optic atrophy, Abnormal chorioretinal morphology, Low-set, posteriorly rotat... ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short h... ORPHA:959
2Q23.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Hyperactivity, Polyphagia, Short... ORPHA:228402
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Microretrognathia, Ambiguous ... ORPHA:276422
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment, Loss of ambulation, Dysphagia, Re... ORPHA:391428
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Limb ataxia, Emotional lability, Gait ataxia, Spastic ataxia, Upper limb hypertonia OMIM:613672
Van Maldergem Syndrome 1
Short 4th metacarpal, Sacral dimple, Abnormal foot morphology, Hypospadias, Narrow chest, Short c... OMIM:601390
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Genu valgum, Hepatomegaly, Recurrent otitis media, Abnormal heart v... OMIM:253220
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Macrocytic anemia, Temporal optic disc pallor, Sensorineural hearing impairment, S... ORPHA:98673
Partington Syndrome
Macroorchidism ORPHA:94083
Osteogenesis Imperfecta, Type Xv
Scoliosis, Thin ribs, Platyspondyly OMIM:615220
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acromelia, Per... ORPHA:763
Hajdu-Cheney Syndrome
Kyphoscoliosis, Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Hyp... OMIM:102500
Distal Deletion 6P
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Low-set ea... ORPHA:96125
Trisomy 10P
Abnormality of the hand, Ulnar deviated club hands, Rectovaginal fistula, EEG with burst suppress... ORPHA:171929
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Long fingers, Micrognathia, Limb u... OMIM:608149
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Sensory axonal neuropathy, Absent internal auditory canal, Corneal opacity, Gait disturbance, Pro... OMIM:620469
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Multifocal epileptiform discharges, Astigmatism, EEG with spike-wave ... ORPHA:168491
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly ORPHA:73246
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Scoliosis, Hyperlordosis, Wormian bones, Bowing of the long bones... ORPHA:1798
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Astigmatism, Hypospadias, Low-set, posteriorly rotated ears, Ventricular septal de... ORPHA:494344
Multiple Pterygium Syndrome, Lethal Type
Short finger, Thin ribs, Micrognathia, Abnormal cervical curvature, Vertebral fusion OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Corneal opacity, Cataract, Left ventricular hypertrophy OMIM:613153
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid macular edema, ... OMIM:611040
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Foot polydactyly, Toe syndactyly, Hand polydactyly, Finger syndactyly ORPHA:60040
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallo... ORPHA:1381
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Protruding ear, Inability to walk, Macrotia, Joint contracture, Cataract, Talipes ... OMIM:617481
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, T... OMIM:266920
Filippi Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... ORPHA:3255
Cree Mental Retardation Syndrome
Rocker bottom foot, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs... OMIM:606851
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Irritability, Inability to walk, Athetosis, Gait disturbance, Hypertrophic cardiom... OMIM:618241
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Multifocal epileptiform discharges, Agitation, Inability to walk, Hypsarrhythmia, Ga... OMIM:617166
Mosaic Trisomy 1
Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Abnormal pinna morphology, Ar... ORPHA:1692
19P13.12 Microdeletion Syndrome
Sandal gap, Hyperactivity, Sensorineural hearing impairment, Abnormal pinna morphology, Hepatic s... ORPHA:254346
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Retinal thinning, Macular dots, Astigmatism, Macular deg... OMIM:270200
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Broad distal phalanx of finger, Astigmatism, Hypospadias, Hyperactivi... ORPHA:363686
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Postaxial foot polydactyly OMIM:611561
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Hyperactivity, Recurrent hand flapping, Unsteady gait, Blue irides, Self-mutilation, ... OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Protruding ear, Cubitus valgus, Cholelithiasis, Hyperactivity, Low frustration tolerance, Shuffli... OMIM:300534
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finge... ORPHA:568
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Hypoplastic scapulae ORPHA:79107
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Clinodactyly of the 5th finger, Broad-based gait, Single trans... OMIM:617807
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Darwin tubercle of helix, Prominent fingertip pads, Compulsive behaviors, Uplifted... OMIM:615722
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Legius Syndrome
Polydactyly, Ovarian neoplasm, Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoli... ORPHA:137605
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal clitoris morphology, Abnormal fal... ORPHA:93929
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
8Q21.11 Microdeletion Syndrome
Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Corneal opacity, Low-set ... ORPHA:284160
Histidinuria Due To A Renal Tubular Defect
Rounded middle phalanx of finger, Short middle phalanx of finger OMIM:235830
Warburg Micro Syndrome 2
Optic atrophy, Clinodactyly of the 5th toe, Small scrotum, Undetectable visual evoked potentials,... OMIM:614225
Acrofrontofacionasal Dysostosis
Hypospadias, Bifid scrotum, Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly... ORPHA:1784
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Abnormal female external genitalia morphology, Clinodactyly of th... ORPHA:2637
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Increased arm span, Long foot, Thin metacarpal cortices, Lumbar hemivertebrae, Thin metatarsal co... ORPHA:2463
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Kyphoscoliosis, Genu valgum, Anterior wedging of L2, Hypoplastic iliac ... OMIM:253200
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Corneal opacity, Umbilical hernia, Camptodactyly of finger, Thenar... OMIM:607015
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Rieger anomaly, Abnormally... OMIM:109120
Morquio Syndrome C
Corneal opacity OMIM:252300
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly OMIM:618087
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hypoplastic vertebral bodies, Limb undergr... OMIM:230600
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Depression, Sensory axonal neuropathy, Dysdiadochok... ORPHA:254881
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the costochondral junction, Delayed epiphyseal ossification, Enlargement of the wr... ORPHA:289157
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Sensorineural hearing impairment, Cachexia, Corneal opacity, Splenomegaly, Broad... ORPHA:2072
Polyendocrine-Polyneuropathy Syndrome
Pes cavus, Decreased circulating follicle stimulating hormone concentration, Decreased circulatin... ORPHA:453533
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial hand polydactyly, Bilateral cryptorchidism, Postaxial polydactyly, ... OMIM:619471
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Astigmatism, Depression, Adrenal medullary hypoplasia OMIM:248000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, Short ribs, Postaxial ... OMIM:617088
Behr Syndrome
Optic atrophy, Adductor longus contractures, Truncal ataxia, Sensory axonal neuropathy, Gait dist... OMIM:210000
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Scoliosis, Camptodactyly, Kyphosis, Broad thumb, Short phalanx of finger, Microgna... OMIM:616894
Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opaci... ORPHA:93474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Sarcosinemia
Optic atrophy, Emotional lability, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ataxia, Infant... ORPHA:3129
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Histidinuria-Renal Tubular Defect Syndrome
Rounded middle phalanx of finger, Short middle phalanx of finger ORPHA:2158
Stickler Syndrome, Type Iv
Genu valgum, Astigmatism, Flat capital femoral epiphysis, Chorioretinal degeneration, Hypoplastic... OMIM:614134
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Abnormal cortical gyration, Pectus carinatum, Single transverse palmar crease... OMIM:617527
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal fibula morphology, Sandal gap, Hypoplasia of penis, Pectus excavatum, Hypothyroidism, Cr... ORPHA:1812
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Short... OMIM:618188
Norrie Disease
Delayed puberty, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Sensorineural hearing impa... ORPHA:649
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Decreased numb... OMIM:256800
Joubert Syndrome 39
Postaxial polydactyly, Joint contracture of the 5th finger OMIM:619562
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Oculofaciocardiodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Cubitus valgus, Retinal detachment, Abnor... ORPHA:2712
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Kid Syndrome
Delayed pubic bone ossification, Patellar hypoplasia, Arthritis, Equinus calcaneus, Knee flexion ... ORPHA:477
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ... ORPHA:1507
Ichthyosis, X-Linked
Palmar hyperlinearity, Testicular neoplasm, Palmoplantar keratoderma, Opacification of the cornea... OMIM:308100
Proteus Syndrome
Macrodactyly, Asymmetry of the thorax, Abnormal form of the vertebral bodies, Abnormal finger mor... ORPHA:744
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Small scrotum, Short distal phalanx of finger, Increased density of long bones, Br... OMIM:269150
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Sensorineural hearing impairment, Split hand, Facial palsy, Ataxia, Dysphagia, Agg... OMIM:614707
Au-Kline Syndrome
Deep plantar creases, Sacral dimple, Clinodactyly of the 5th finger, Deep palmar crease, Craniosy... OMIM:616580
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Hypot... ORPHA:254913
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Retinal detachment, Finger syndactyly, Abnormal dental enamel ... ORPHA:464
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Palmoplantar keratoderma, E... ORPHA:324737
Frontometaphyseal Dysplasia 2
Delayed puberty, Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial... OMIM:617137
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Dpm1-Cdg
Optic atrophy, Hepatomegaly, External genital hypoplasia, Elevated circulating hepatic transamina... ORPHA:79322
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, Low-set ears, ... OMIM:619339
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Chronic otitis media, Abnormality of the gallbladder, Hypoplasti... ORPHA:280
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Low-set, posteriorly rotated ears, Hyp... ORPHA:3376
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot po... ORPHA:2752
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ... ORPHA:989
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the toes, Hyperopic... ORPHA:397973
Rubinstein-Taybi Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Broad thumb, Abnormal distal phalanx morpholog... ORPHA:783
Short Stature With Microcephaly And Distinctive Facies
Proximal placement of thumb, Syndactyly, Microretrognathia, Brachydactyly, Short distal phalanx o... OMIM:615789
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Bilateral cryptorchidis... ORPHA:2754
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Pectus excavatum, Metatarsus adductus,... OMIM:227330
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Abnormal hip bone morphology, Inguinal hernia, Epiphyseal stippling, ... ORPHA:584
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Slender long bone, Palmoplantar h... OMIM:601812
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Hyperinsulinemia, Hyperactivity, Gait ataxia,... ORPHA:363400
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia OMIM:271310
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Tetrasomy 9P
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the clavicles, Sacral dimple, J... ORPHA:3310
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Platyspondyly, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles,... ORPHA:50945
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Scoliosis, Short neck, Micrognathia, Toe syndactyly OMIM:616038
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Gait distu... OMIM:614170
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Developmental cataract, Loss of ambul... OMIM:610532
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce... OMIM:618805
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Iris hypopigmentation, Inappropriate laughter, Ataxi... ORPHA:411515
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Clinodactyly of the 5th finger, Elevated circulating hepatic transaminase concentration... OMIM:608093
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Hepatomegaly, Elevated circulating hepatic transaminase concen... OMIM:615673
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... ORPHA:1001
Severe Congenital Nemaline Myopathy
Hypospadias, Thin ribs, Adducted thumb, Micropenis, Abnormal thorax morphology ORPHA:171430
Alg8-Cdg
Optic atrophy, Anemia, Elevated circulating hepatic transaminase concentration, Low-set ears, Cam... ORPHA:79325
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Warburg Micro Syndrome 3
Optic atrophy, Clinodactyly of the 5th finger, Inability to walk, Small scrotum, Microcornea, Hyp... OMIM:614222
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Vertebral compression fractu... OMIM:610682
Pfeiffer Syndrome Type 3
Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux phalanx, Toe syndactyly,... ORPHA:93260
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, Clinodactyly of the 5th toe, Joint contracture of the hand, Hypsarrhythmia, Macrot... OMIM:601110
X-Linked Intellectual Disability, Cabezas Type
Clinodactyly of the 5th finger, Cubitus valgus, Sandal gap, Broad-based gait, Hypoplasia of penis... ORPHA:85293
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Narrow chest, Short palm, Micrognathia, Syndactyly, Brachydactyly, S... OMIM:217980
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Irritability, Acetabular dysplasia, Hammertoe, Retinal detachment, Hearing impairm... OMIM:619833
Microcephaly, Amish Type
Optic atrophy, Irritability, Hepatomegaly, Failure to thrive, Flexion contracture, Hypoplasia of ... OMIM:607196
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Short neck, Sandal gap ORPHA:178303
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Failure ... OMIM:616881
Ruijs-Aalfs Syndrome
Posterior subcapsular cataract, Single transverse palmar crease, Hepatocellular carcinoma, Elbow ... OMIM:616200
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Short hallux, Umbilical hernia, Pericardial eff... OMIM:239850
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:79444
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Joint contracture of the... OMIM:244300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Decreased fertility, Clinodactyly of the 5th finger, Abnormality of the hypothalam... ORPHA:1173
Tbck-Related Intellectual Disability Syndrome
Broad finger, Decreased response to growth hormone stimulation test, 11 pairs of ribs, Broad toe,... ORPHA:488632
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Retinopathy, Abnormal mitral v... ORPHA:217085
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Hepatomegaly, Rhizomelia, Inguinal hernia, Broad long bone diaphyses, Acetabul... OMIM:614376
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Ocular anterior segment dysgenesis, Clinodactyly of the 5th finger, Broad toe... OMIM:612582
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Spinal canal stenosi... OMIM:277600
Chromosome 10Q26 Deletion Syndrome
Radial deviation of finger, Sandal gap, Hyperactivity, Sensorineural hearing impairment, Prominen... OMIM:609625
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Inguinal hernia, Congenital finger flexion contractures, Bilateral talipes equinov... ORPHA:1154
Spastic Paraplegia 26, Autosomal Recessive
Pes cavus, Scoliosis, Decreased serum testosterone concentration OMIM:609195
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Cohen Syndrome
Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Cubitus va... ORPHA:193
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Pigmentary retinopathy, Interictal EEG abnormality, Abnormal hear... ORPHA:79264
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral hypomyelination, Decreased nerve conduction velocity, Aganglionic megacolon, Short-seg... OMIM:609136
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Platyspondyly, Arthritis, Pectus carinatum... ORPHA:1855
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Craniosynostosis, Overlapping toe, Decreased response to growth hormone stimula... OMIM:213980
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Premature ovarian insufficiency, Decreased circulating progesterone, Emotional lab... OMIM:603896
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum... OMIM:192350
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Galactokinase Deficiency
Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Sensorineural hearing impairment... ORPHA:79237
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Depression, Sensory axonal neuropathy, Progressive hearing impai... OMIM:609286
Alstrom Syndrome
Polydactyly, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes in... OMIM:203800
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Subcapsular... OMIM:612674
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Hepatomegaly, Inability to walk, Low-set ears, Hypertrophic cardiomyopathy, Gait a... OMIM:619383
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Pectus carinatum, Pectus e... OMIM:272950
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Pectus e... ORPHA:457284
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Retinopathy, Abnormal mitral v... ORPHA:217093
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Impotence, Cataract, Diabetes mellitus, Hepatic ... OMIM:606069
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly ORPHA:66629
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, Clinodactyly of the 5th finger, R... OMIM:618162
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Talipes, Tapered toe, Slender long bone, Shoulder flexion contracture, Thin ribs... OMIM:620369
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
2-4 toe cutaneous syndactyly, Abnormality of the endocrine system, Pectus excavatum, Kyphosis, Pr... ORPHA:268261
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Abnormal hip bone morphology, Hypoplasia of penis, Truncal obesity, Camptodactyly ... ORPHA:127
Combined Oxidative Phosphorylation Deficiency 25
Pectus carinatum, Syndactyly OMIM:616430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Anorexia, Retinal dystrophy, Sensorineural hearing impairment, Megaloblastic anemi... ORPHA:49827
Carpenter Syndrome 2
Pectus carinatum, Pectus excavatum, Broad thumb, Craniosynostosis, Camptodactyly, Patent ductus a... OMIM:614976
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Abnormal leukocyte morphology, Gait disturbance, Ataxia, Retrobulbar optic neuritis ORPHA:3151
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Pterygium, Finger syndactyly, Lissencephaly, Calc... OMIM:256520
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Genu valgum, Abnormal metacarpal morphology, Brachydactyly ORPHA:1295
Fabry Disease
Optic atrophy, Abnormal endocardium morphology, Anorexia, Abnormal femur morphology, Anemia, Corn... ORPHA:324
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hepatomegaly, Elevated circulating hepatic transamin... OMIM:615273
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Micrognathia ORPHA:314655
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A... ORPHA:3138
Stolerman Neurodevelopmental Syndrome
Broad palm, Clinodactyly of the 5th finger, Syndactyly, Pectus excavatum OMIM:618505
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Abnormal circulating... ORPHA:2636
Attrv30M Amyloidosis
Vitreous floaters, Cardiomyopathy, Abnormal autonomic nervous system physiology, Impotence, Weigh... ORPHA:85447
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Protruding ear, Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus, Abnorm... ORPHA:401777
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, EEG abnormality, Hypertrophic cardiomyopathy OMIM:614096
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Abnormality of the gallbladder, Proximal p... ORPHA:818
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Protruding ear, Vitreous hemorrha... OMIM:620185
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
X Small Rings
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Short neck, Lower lim... ORPHA:96201
Triple A Syndrome
Optic atrophy, Anterior hypopituitarism, Sensorineural hearing impairment, Abnormality of the hyp... ORPHA:869
Refsum Disease
Hammertoe, Sensorineural hearing impairment, Cardiomyopathy, Short metacarpal, Abnormal epiphysis... ORPHA:773
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Single transverse palmar crease, Prominent sternum, Wrist flexion contracture, Camptodactyly, Pec... ORPHA:254528
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, Inability to walk, Gait ataxia, Unsteady gait, A... ORPHA:1947
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Scoliosis, Prominent fingertip pads, Hyperlordosis, Precocious puberty, Long finge... OMIM:619950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Tapered toe, Macrovesicular hepatic steatosis, Cardiomegaly, Eleva... OMIM:608836
Gaucher Disease
Delayed puberty, Corneal opacity, Retinopathy, Leukopenia, Ataxia, Splenomegaly, Dysphagia, Pancy... ORPHA:355
Alpha-Mannosidosis, Infantile Form
Mixed hearing impairment, Genu valgum, Astigmatism, Pancytopenia, Depression, Sensorineural heari... ORPHA:309282
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Emotional lability, Peripheral axonal neuropathy, Abnormal autonomi... ORPHA:35069
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Elevated circulating hepatic transaminase concentration, Impaired ora... ORPHA:404454
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... OMIM:252500
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Pectus excavatum, Broad thumb, Hypospadias, Scoliosis, Postaxial hand polyda... ORPHA:373
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Spastic gait, Dysdiadochokinesis, Waddling gait, Gait ataxia, Hearing impairment, ... OMIM:607259
3C Syndrome
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hemivertebrae, Missing ribs, Kyphosis... ORPHA:7
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Facial diplegia, Splenomegaly, Left ventricular hyper... OMIM:205400
Transketolase Deficiency
Hepatomegaly, Secondary amenorrhea, Patent foramen ovale, Compulsive behaviors, Attention deficit... ORPHA:488618
Distal Deletion 13Q
Optic atrophy, Abnormality of the hand, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... ORPHA:1590
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive cerebellar ataxia, Emotional lability, Progressive gait ataxia, Upper ... ORPHA:254343
Distal Monosomy 7Q36
Optic atrophy, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypopl... ORPHA:1636
Holoprosencephaly-Craniosynostosis Syndrome
Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Brachydactyly, Short distal phalanx... ORPHA:2163
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Xq12-Q13.3 Duplication Syndrome
Agitation, Hypsarrhythmia, 2-3 toe syndactyly, Cleft earlobe, Cutaneous finger syndactyly, Abnorm... ORPHA:314389
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Atrial septal defect, Carpal osteolysis, Pterygium, Osteolysis involving b... ORPHA:371428
Aicardi Syndrome
Delayed puberty, Butterfly vertebrae, Bifid ribs, Polymicrogyria, Scoliosis, Missing ribs, Rib fu... ORPHA:50
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Abnormal flash visual ev... OMIM:618195
Leber Congenital Amaurosis
Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentat... ORPHA:65
Diphallia
Penoscrotal transposition, Epispadias, Butterfly vertebrae, Bifid penis, Hypospadias, Ectopic scr... ORPHA:227
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibial bowing, Ky... OMIM:259770
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Vitreous hemorrhage, Chorioretinal atroph... ORPHA:891
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormality of the humerus, Camptodactyly of finger, Brachydactyly, Adducted thumb ORPHA:1794
Warburg Micro Syndrome 4
Optic atrophy, Inability to walk, Microcornea, Decreased testicular size, Developmental cataract,... OMIM:615663
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Metaphyseal sclerosis, Lymphadenopathy, Clubbing of fingers, ... ORPHA:2905
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Ataxia... ORPHA:280234
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, C... ORPHA:3107
Dpagt1-Cdg
Elevated circulating hepatic transaminase concentration, Head-banging, Arachnodactyly, Ataxia, Cl... ORPHA:86309
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Townes-Brocks Syndrome
Delayed puberty, Abnormal vagina morphology, Hypoplasia of penis, Absent toe, Bifid scrotum, Broa... ORPHA:857
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Mevalonic Aciduria
Fluctuating splenomegaly, Progressive cerebellar ataxia, Anemia, Lymphadenopathy, Elevated circul... OMIM:610377
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Limb undergrowth, Narrow chest ORPHA:1861
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Sensorineural hearing impairment, Leukocytosis, Hearing im... ORPHA:1451
19Q13.11 Microdeletion Syndrome
Clinodactyly of the 5th finger, Hypospadias, Finger syndactyly, Cachexia, Microcornea, Bifid scro... ORPHA:217346
Angelman Syndrome
Optic atrophy, Astigmatism, Inability to walk, Precocious puberty in females, Broad-based gait, H... ORPHA:72
Adams-Oliver Syndrome
Cirrhosis, Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abnormality of the uppe... ORPHA:974
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Irritability, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, L... ORPHA:401866
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Sensorineural hearing impairment, Gait disturbance, Macrot... ORPHA:163937
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Inability to walk, Flexion contracture, Upper limb hypertonia, Optic disc pallor OMIM:619328
Monosomy 9P
Bilateral single transverse palmar creases, Proximal placement of thumb, Hypospadias, Abnormality... ORPHA:261112
Abetalipoproteinemia
Elevated circulating hepatic transaminase concentration, Gait ataxia, Reticulocytosis, Ataxia, Ca... ORPHA:14
1Q21.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Inguinal hernia, Abnormal cardiac septum morphology, Depression, ... ORPHA:250989
Methylcobalamin Deficiency Type Cble
Scoliosis, Clinodactyly, Syndactyly ORPHA:2169
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... ORPHA:794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Obesity, Hypogonadism, Cataract, Cryptorchidism, R... ORPHA:363741
Sanjad-Sakati Syndrome
Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Low-set, posteriorly rotated ears... ORPHA:2323
Microphthalmia, Syndromic 2
Sandal gap, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Mitral va... OMIM:300166
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Abnormal peritoneum morphology, Corneal ... ORPHA:1764
Chromosome 8Q21.11 Deletion Syndrome
Protruding ear, Sensorineural hearing impairment, Low-set ears, Short metacarpal, Camptodactyly, ... OMIM:614230
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Muckle-Wells Syndrome
Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Camptodactyly of finger, Hernia of the abdo... ORPHA:575
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614576
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Hyperactivity, Congenital finger flexion con... ORPHA:363528
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Progressive sensorineural hearing impairment, Truncal ataxia, Peripheral axonal ne... OMIM:601338
Mosaic Trisomy 16
Single transverse palmar crease, Short thumb, Short forearm, Syndactyly, Short femoral neck, Abno... ORPHA:1708
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Cholelithiasis, Broad long bone diaphyses, Hyperlordosis, B... OMIM:301066
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Optic nerve hypoplasia, Sensorineural hearing imp... OMIM:616364
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly OMIM:616028
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Hyperlordosis, Pectus excavatum, K... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Hyperlordosis, Pectus excavatum, K... ORPHA:363958
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Cole-Carpenter Syndrome 2
Thin ribs, Narrow iliac wing, Pectus excavatum, Kyphosis, Microretrognathia, Platyspondyly OMIM:616294
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Ataxia, Leu... ORPHA:27
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, Ky... OMIM:216340
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum, Broad clav... OMIM:304150
Zika Virus Disease
Wrist swelling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Tra... ORPHA:448237
Mucolipidosis Type Iii Alpha/Beta
Difficulty walking, Recurrent otitis media, Sensorineural hearing impairment, Corneal opacity, Co... ORPHA:423461
Craniorachischisis
Sirenomelia, Bifid sternum ORPHA:63260
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Hypsarrhythmia, EEG with multifocal slow activity, Impulsivity... ORPHA:442835
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Scoli... OMIM:601358
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Increased intervertebral space, Broad ischia, Broad femoral neck, Short pal... OMIM:619727
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Hyperactivity, Bone marrow hypocellularity, Hernia, Pan... OMIM:617052
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
3Q29 Microduplication Syndrome
Aniridia, Sandal gap, Low-set ears, Camptodactyly of toe, Hearing impairment, Obesity, Sclerocorn... ORPHA:251038
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Abnormal foot morphology, Camptodactyly, Hand clenching, Micrognathia, Adduc... OMIM:617822
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Inguinal hernia, Broad-based gait, Truncal obesity, Sensory axonal neuropathy, Dysdiadoch... OMIM:616541
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Bilateral cryptorchidism, Rib fusion,... ORPHA:544488
Friedreich Ataxia
Optic atrophy, Limb ataxia, Gait imbalance, Inability to walk, Falls, Sensory axonal neuropathy, ... ORPHA:95
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment, Broad thumb, Joint contracture, Broad hallux, Cr... OMIM:300406
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Short phalanx of finger, Micrognathia, Limb undergrowth OMIM:225410
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Hyperlysinemia, Type I
Anemia, Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Ectopia lentis OMIM:238700
Autosomal Recessive Hypophosphatemic Rickets
Sclerotic vertebral endplates, Rickets of the lower limbs, Enlargement of the wrists, Distal femo... ORPHA:289176
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Opacification of the corneal stroma, Polycystic ovaries, Decreased fertilit... ORPHA:1643
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Premature ovarian insufficiency, Elevated circ... OMIM:230400
Myoclonic-Astatic Epilepsy
Abnormal emotion, EEG with polyspike wave complexes, Hyperactivity, Interictal epileptiform activ... ORPHA:1942
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Split foot, Foot polydactyly, Camp... ORPHA:2008
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Increased circulating T4 concentration, Jaundice, Hepatomegaly, Elevate... ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplastic male ex... OMIM:236670
Coffin-Lowry Syndrome
Optic atrophy, Broad finger, Protruding ear, Abnormal aortic valve morphology, Abnormal diaphysis... ORPHA:192
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the palmar creases, Calcaneovalgus deformity, Long fingers, Tapered finger ORPHA:521445
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells... ORPHA:1830
Woods Syndrome
Optic atrophy, Limited elbow extension, Single transverse palmar crease, 3-4 finger cutaneous syn... OMIM:615236
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Finger syndactyly, Pectus carinatum, Bro... OMIM:101200
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Developmental glaucoma, Sandal gap, Enlarged metaphyses, Disloca... OMIM:245600
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Abnormal earlobe morphology, Corneal opaci... ORPHA:2556
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Aplasia/hypoplasia involving bones of the upper ... ORPHA:2369
Fryns Syndrome
Congenital diaphragmatic hernia, Aganglionic megacolon, Clinodactyly of the 5th finger, Hypospadi... ORPHA:2059
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Astigmatism, Elevated circulating hepatic transaminase concentration, Sensorineural... OMIM:617713
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of femur, Platyspondyly, Large knee, Metaphyseal chondromatosis of tib... ORPHA:99646
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Craniosynostosis, Narrow chest, Metopic synostosis, Short ribs, Postaxia... OMIM:613610
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Abnormal clavicle morphology, Palmoplantar keratoderma, Clinodact... ORPHA:2710
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Proximal placement of thumb, Sensorineural hearing impairment, Aortic valve s... OMIM:601808
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Pericardial effusion, Failure to thrive, Cardiomegaly... OMIM:614702
Aspergillosis
Abnormal long bone morphology, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:1163
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619064
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Low-set ears, Developmental cataract, Protruding ear, Adducted thumb, Hernia, Ta... OMIM:616603
Myhre Syndrome
Short finger, Cone-shaped epiphysis, Radial deviation of finger, Enlarged vertebral pedicles, Hyp... OMIM:139210
Developmental And Epileptic Encephalopathy 89
Clitoral hypertrophy, Narrow chest, Scoliosis, Hypoplastic labia minora, Limb undergrowth, Micror... OMIM:619124
Pitt-Hopkins Syndrome
Narrow foot, Pes valgus, Supernumerary nipple, Short metatarsal, Single transverse palmar crease,... ORPHA:2896
Basel-Vanagaite-Smirin-Yosef Syndrome
Pes cavus, Overlapping fingers, Finger syndactyly, Broad distal phalanx of the toes, 2-3 toe synd... ORPHA:464738
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Muscular ventricular septal defect, Hypochromic microcytic anemia, Elevated circul... ORPHA:66634
Scheie Syndrome
Genu valgum, Corneal opacity, Aortic valve stenosis, Mitral stenosis, Retinal degeneration OMIM:607016
Aminopterin/Methotrexate Embryofetopathy
Talipes, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia ORPHA:1908
Helsmoortel-Van Der Aa Syndrome
Polydactyly, Decreased response to growth hormone stimulation test, Genu valgum, Clinodactyly of ... OMIM:615873
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Micrognathia, Rib fusion ORPHA:261197
Craniofrontonasal Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Short neck, Sprengel anomaly, Broad ... OMIM:304110
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Trichohepatoneurodevelopmental Syndrome
Fibular bowing, Clinodactyly of the 5th finger, Cholelithiasis, Narrow chest, Patent ductus arter... OMIM:618268
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Elevated circulating hepatic transaminase concentration, Punctate opa... OMIM:256040
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis OMIM:148200
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger syndactyl... ORPHA:158687
Stromme Syndrome
Preaxial polydactyly, Accessory spleen, Optic nerve hypoplasia, Microcornea, Low-set ears, Sclero... OMIM:243605
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:79443
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Dy... ORPHA:99027
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovo... OMIM:309801
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... OMIM:608328
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Charge Syndrome
Polydactyly, Delayed puberty, Abnormality of the adrenal glands, Abnormal tibia morphology, Clino... ORPHA:138
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Talipes equinovarus, Short long bone, Flat aceta... ORPHA:263508
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Sensorineural hearing impairm... ORPHA:1606
Curry-Jones Syndrome
Triphalangeal hallux, Broad thumb, Duplication of thumb phalanx, 3-4 toe syndactyly, 2-3 finger s... OMIM:601707
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Radial deviation of finger, External genital hypoplasia, Talipes, Adre... OMIM:249000
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Short long bone, Pulmonic stenosis, Cardiomegaly, Right atrial ... OMIM:306955
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Inability to walk... OMIM:617303
Spondyloocular Syndrome
Femur fracture, Posterior subcapsular cataract, Atrial septal defect, Retinal detachment, Sensori... OMIM:605822
Neurofibromatosis Type 1
Delayed puberty, Abnormal hip bone morphology, Spinal neurofibroma, Abnormality of the endocrine ... ORPHA:636
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Pigmentary retinopathy, Gait disturbance, Dysphagia, Weight loss... ORPHA:216866
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Chronic otitis media, Abnormal earlobe morphology, Hyperactivity... ORPHA:96121
Mitochondrial Trifunctional Protein Deficiency
Equinovarus deformity, Pes cavus, Hypoparathyroidism, Equinus calcaneus, Decreased patellar reflex ORPHA:746
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Sensorineural hearing impairm... OMIM:220500
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Cardiomyopathy, Low-set ears, Bilateral sensorineural hearing impairment, Gait ata... OMIM:620089
2P15P16.1 Microdeletion Syndrome
Bilateral single transverse palmar creases, Sandal gap, Optic nerve hypoplasia, Dysphagia, Hypogo... ORPHA:261349
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Hypoplastic left atrium,... OMIM:601186
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Astigmatism, Inability to walk, Camptodactyly, Clinodactyly, Ataxia, Dysphagia, Ta... OMIM:619576
Spinocerebellar Ataxia Type 1
Optic atrophy, Progressive cerebellar ataxia, Gait imbalance, Abnormal nerve conduction velocity,... ORPHA:98755
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Inguinal hernia, Coronary arter... OMIM:614294
Coffin-Lowry Syndrome
Lumbar kyphosis, Delayed closure of the anterior fontanelle, Bifid sternum, Hyperextensibility of... OMIM:303600
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal peripheral nerve morphology by anatomical site,... ORPHA:88628
Halperin-Birk Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Inabili... OMIM:618651
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Short clavicles, Hypoplastic acetabulae, Hypoplastic ilia, Congen... OMIM:169550
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Obesity, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Benign Schwannoma
Abnormal fibula morphology ORPHA:252164
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Corneal opacity, Low-se... ORPHA:2399
Jaberi-Elahi Syndrome
Optic atrophy, Protruding ear, Inability to walk, Broad-based gait, Low-set ears, Gait ataxia, Fa... OMIM:617988
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Limb ataxia, Steppage gait, Depression, Truncal ataxia, Emotional lability, Sensor... OMIM:258450
Hamamy Syndrome
Clinodactyly of the 5th finger, Short 2nd finger, Pectus excavatum, Long fingers, Micrognathia, D... OMIM:611174
Aicardi-Goutieres Syndrome 9
Optic atrophy, Irritability, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase conc... OMIM:619487
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Po... ORPHA:46059
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, Pulmonic stenosis, Failure to thrive, Absent thumb, Atrial septal ... OMIM:619239
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Scoliosis, 2-3 toe syndactyly, Bilateral talipes equinovarus, Equinus calcaneus, Lumbar hyperlord... ORPHA:522077
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Focal Dermal Hypoplasia
Midclavicular aplasia, Short ribs, Short metacarpal, Split foot, Midclavicular hypoplasia, Short ... OMIM:305600
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Epiphyseal stippling, Microtia, Cataract, Hearing impairment, Brachydactyly, Short... ORPHA:1914
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Polymicrogyria, Scoliosis, Hemivertebrae, Gray ... OMIM:304050
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Broad-based gait, Optic nerve hypoplasia, Corneal dystrophy... ORPHA:495875
Short Syndrome
Lipoatrophy, Radial deviation of finger, Astigmatism, Inguinal hernia, Slender long bone, Small f... OMIM:269880
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Small for gestational age, Patent foramen ovale, Low-set ears, Hearing impairment,... OMIM:614261
Marfan Syndrome
Kyphoscoliosis, Narrow foot, Pes cavus, Limited elbow extension, Talipes, Hammertoe, Spondylolist... OMIM:154700
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Chronic otitis media, Hyperactivity, Camptodactyly, Hearing impa... ORPHA:412035
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Infantile Krabbe Disease
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease... ORPHA:206436
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Hyperinsu... ORPHA:791
Ellis Van Creveld Syndrome
Epispadias, Genu valgum, Cubitus valgus, Hypospadias, Narrow chest, Short thorax, Synostosis of c... ORPHA:289
Leigh Syndrome
Optic atrophy, Emotional lability, Sensorineural hearing impairment, Hepatocellular necrosis, Fai... OMIM:256000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Broad thumb, Bicuspid aortic valve, Short... ORPHA:508498
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Chime Syndrome
Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia ... ORPHA:3474
Bohring-Opitz Syndrome
Deep plantar creases, Sacral dimple, Deep palmar crease, Dislocated radial head, Mesomelic/rhizom... OMIM:605039
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Al-Gazali Syndrome
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corneal opacity, ... OMIM:609465
Mckusick-Kaufman Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2473
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Inguinal hernia, Microcornea, Hearing impairment, Abnormal heart morphology, Umbilic... OMIM:601499
Timothy Syndrome
Cutaneous syndactyly OMIM:601005
Fanconi Anemia
Abnormal femur morphology, Abnormality of the upper limb, Hypogonadism, Hip dislocation, Hypoplas... ORPHA:84
Dystonia-Deafness Syndrome 1
Femoral retroversion, Sensorineural hearing impairment, Loss of ambulation, Dysphagia, Cataract, ... OMIM:607371
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Failure to thrive... ORPHA:137675
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Hepatomegaly, Anemia, Flared metaphysis, Pancytopenia, Facial pals... OMIM:259700
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Radial deviation of finger, Abnormal pinna morphology, Corneal opacity, Wri... OMIM:268300
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Pancreatitis, Hammertoe, Inability to walk, Splenic cyst, Retinal detachment... OMIM:620371
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Retinopathy, Target cel... OMIM:603903
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Dys... OMIM:252930
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Sensorineur... OMIM:122470
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Broad-based gai... ORPHA:206448
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tip-toe gait, Proximal muscle weakness in upper limbs, Difficulty walking, Develop... ORPHA:99956
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Orofaciodigital Syndrome Xiv
Epispadias, Preaxial polydactyly, Aplasia of the epiglottis, Polymicrogyria, Short ribs, Postaxia... OMIM:615948
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of ribs, Clinodactyly of the 5th... OMIM:117650
Williams Syndrome
Chronic otitis media, Hypoplasia of penis, Sensorineural hearing impairment, Corneal opacity, Pul... ORPHA:904
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Choreoathetosis, Neutropenia ORPHA:289916
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Undetectable visual evoked potentials, Ventricular hypertrophy, Hype... OMIM:619051
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Kyphosis, Decreased circulating T4 concent... ORPHA:64
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Hearing impairment, Cardiomegaly ORPHA:3137
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Abnormal finger morphology, Abnormal pinna morphology, ... ORPHA:3472
Peters Plus Syndrome
Corneal opacity, Pulmonic stenosis, Umbilical hernia, Anterior chamber synechiae, Abnormal cardia... ORPHA:709
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Beck-Fahrner Syndrome
Protruding ear, Depression, Attention deficit hyperactivity disorder, Hip dysplasia, Cardiomegaly... OMIM:618798
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Elevated circulating hepatic transaminase concentration, Low-set ears, Failure to ... OMIM:612379
Macrodactyly
Macrodactyly OMIM:155500
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Hyperactivity, Depression, Low-set ears, A... OMIM:601853
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Retin... OMIM:614863
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, Scoliosis, Foot polydactyly, 2-4 toe syndactyly, Ovarian serous cystadenoma, Hydroc... ORPHA:276280
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Aplasia of the uterus, Kyphosis, Hip dislocation, Sacral d... OMIM:194190
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, ... OMIM:252900
Adnp Syndrome
Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn... ORPHA:404448
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Pe... OMIM:240300
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D... ORPHA:666
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, P... ORPHA:95513
Fucosidosis
Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Low-set ears, Hearing impairment, Failure to ... OMIM:230000
Congenital Disorder Of Glycosylation, Type Iib
Optic atrophy, Hypoplastic female external genitalia, Hepatomegaly, EEG with burst suppression, S... OMIM:606056
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Decreased liver function, Hepatomegaly, Anemia, Bilateral sensorineural hearing im... ORPHA:436271
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Abnormality of the hand, Slender long bone, Sco... OMIM:234100
Chops Syndrome
Optic atrophy, Patent foramen ovale, Ventricular septal defect, Anomalous pulmonary venous return... OMIM:616368
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Narrow chest, Hypo... ORPHA:93271
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Encephalocraniocutaneous Lipomatosis
Lipoma, Ventricular septal defect, Subcutaneous lipoma, Hypoplasia of the iris, Sclerocornea, Mul... OMIM:613001
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, Hyperactivity, Single transverse palmar crease, Bifid scr... OMIM:619148
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... ORPHA:95512
Distal Duplication 17Q
Genu valgum, Rhizomelia, Low-set, posteriorly rotated ears, Accessory spleen, Hyperactivity, Bila... ORPHA:3379
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Opitz-Kaveggia Syndrome
Radial deviation of finger, Sacral dimple, Single transverse palmar crease, Prominent fingertip p... OMIM:305450
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... OMIM:216360
Stt3B-Cdg
Optic atrophy, Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Later... OMIM:242900
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Right atrial en... ORPHA:57777
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone ... ORPHA:534
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing impairment, Impulsivity, Bro... ORPHA:353281
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Hyperlordosis, Micrognathia, Palmo... ORPHA:3253
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Joubert Syndrome 14
Postaxial polydactyly OMIM:614424
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Hyperactivity, Hypoplastic iliac wing, Sensorineural ... OMIM:235510
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Recurrent otitis media, Inguinal hernia, Abnormal heart valve morphology, Split han... OMIM:309900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Vertebral segm... ORPHA:3186
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Opacification of the corneal stroma, Cor pulm... OMIM:215250
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, ... OMIM:147791
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Hip subluxation, Hepatomegaly, Anemia, Hypochromic microcytic anemia, I... OMIM:259720
Cerebrotendinous Xanthomatosis
Difficulty walking, Cholelithiasis, Delayed somatosensory central conduction time, Ataxia, Catara... OMIM:213700
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Vertebral segmentation defect, Micromelia, Br... ORPHA:87
Robinow Syndrome, Autosomal Dominant 1
Radial deviation of finger, Dislocated radial head, Short long bone, Pectus excavatum, Broad thum... OMIM:180700
Trisomy 18
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Abnormality of the lowe... ORPHA:3380
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr... ORPHA:293603
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Microgna... OMIM:620025
Gaucher Disease, Perinatal Lethal
Akinesia, Anemia, Hepatomegaly, Microtia, Low-set ears, Decreased body weight, Hepatosplenomegaly... OMIM:608013
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Aggressive behavior, Slender long bone, Single trans... OMIM:616202
Takenouchi-Kosaki Syndrome
Optic atrophy, Proximal placement of thumb, Hypospadias, Inguinal hernia, Sensorineural hearing i... OMIM:616737
Joubert Syndrome 1
Retinal dysplasia, Retinal dystrophy, Hyperactivity, Self-mutilation, Postaxial hand polydactyly,... OMIM:213300
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Recurrent otitis media, Anemia, Tongue thrusting, Cone-shaped epiphyses of ... ORPHA:261323
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Abnormality of the lower limb, Abnormality of the upper limb, Scoliosis, Short... ORPHA:1556
Cockayne Syndrome
Delayed puberty, Elevated circulating hepatic transaminase concentration, Cachexia, Retinal atrop... ORPHA:191
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Metopic synostosis, Scoliosis, Vertebral segmentation defect, Gray m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Metopic synostosis, Scoliosis, Vertebral segmentation defect, Gray m... ORPHA:352665
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Corneal opacity, Micromelia, Aplasia/Hypoplasia of the radius, ... ORPHA:1765
Olmsted Syndrome 1
Corneal opacity, Autoamputation of digits, Flexion contracture, Palmoplantar keratoderma, Opacifi... OMIM:614594
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Limited elbow movement, Proximal muscle weakness in upper limbs, Distal upper limb ... ORPHA:268
Stüve-Wiedemann Syndrome
Abnormal metaphysis morphology, Genu valgum, Sacral dimple, Scoliosis, Elbow flexion contracture,... ORPHA:3206
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Abnormal cortical gyration, Short 2nd toe, Gray matter h... OMIM:311200
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Hypospadias, Single transverse palmar crease, Th... OMIM:229850
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... ORPHA:168569
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Decreased testicul... OMIM:157800
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Sacral dimple, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx ORPHA:2211
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Impotence, Ataxia, Cherry red spot of the macula, Hepatosp... OMIM:268800
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Slender long bone, Thin ribs, Ulnar deviation of the hand or of fingers of th... OMIM:208150
Tangier Disease
Anemia, Peripheral axonal neuropathy, Facial diplegia, Corneal opacity, Chronic noninfectious lym... ORPHA:31150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Hypospadias, Abnormal mitochondrial shape, Short humerus, Patent ductus arteriosus, ... ORPHA:17
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Coat hanger sign of ribs, Micrognathia, Thoracic hypoplasia, ... ORPHA:254519
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Tip-toe gait, Depression, Emotional lability, Fractures of the long bones, Compuls... ORPHA:157850
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Subcutaneous lipoma, Shagreen patch, Abnormal pupil mor... ORPHA:2969
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Galactosialidosis
Visceromegaly, Conjunctival telangiectasia, Hearing impairment, Hepatosplenomegaly, Cherry red sp... OMIM:256540
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Palmoplantar keratoderma, Patent foramen ovale, Corneal opacity, Right atrial enlargement, Perica... OMIM:620519
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Genu valgum, Astigmatism, Inability to walk, Elbow flexion contracture, EEG with f... OMIM:618493
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Neurocardiofaciodigital Syndrome
Polydactyly, Double inlet left ventricle, Hearing impairment, Failure to thrive, Sclerocornea, Sy... OMIM:619869
Mucopolysaccharidosis, Type Iiid
Agitation, Difficulty walking, Hepatomegaly, Recurrent otitis media, Inguinal hernia, Hyperactivi... OMIM:252940
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hearing impairment, Papilledema, Hepatosplenomegaly, Eosin... OMIM:607115
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Truncal ataxia, Peripheral axonal neuropathy, Sensorineural hearing impairment, Card... OMIM:105210
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Deep palmar crease, Sandal gap, Pal... OMIM:619127
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Hypothyroidism, Limb undergrowth, Patent ductus arteriosus, Hip dislocation OMIM:618005
Micro Syndrome
Optic atrophy, Delayed puberty, Low-set, posteriorly rotated ears, Hypoplasia of penis, Microcorn... ORPHA:2510
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Gallbladder dysfunction, Emotional lability, ... OMIM:250100
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Posterior subcapsular cataract, Reduced sperm motility, Rod-cone dystroph... OMIM:615434
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Astigmatism, Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Enamel hy... OMIM:618727
Bloom Syndrome
Clinodactyly of the 5th finger, Azoospermia, Hand polydactyly, Syndactyly, Type II diabetes melli... OMIM:210900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Long foot, Spina bifida occulta, Tibial bowing, Abnormal femoral torsi... ORPHA:500095
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Severe failure to thrive, Fixed elbow flexion, Inability to walk... ORPHA:97297
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Ventricular septal defect, Hearing impairment, Sclerocornea, Cr... ORPHA:77298
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Microtia, Corneal opacity, Keratitis, Posteriorly rotated ears, Conjuncti... OMIM:602562
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Retinal detachment, Microcornea, Low-set ea... OMIM:615145
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Elevated circulating hepatic transaminase concentration, Hypopla... ORPHA:110
Autosomal Recessive Faciodigitogenital Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Micrognathia, Brachydactyly, Down-... ORPHA:1974
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol... ORPHA:529799
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol... ORPHA:529808
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal long bone morphology, Abnormal metacarpal morpholog... ORPHA:228123
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Schinzel-Giedion Syndrome
Kyphoscoliosis, Tibial bowing, Short distal phalanx of finger, Overlapping toe, Abnormal thorax m... ORPHA:798
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hypospadias, Patent ductus arteriosus, Anterior pituitary hypoplasia, Hemive... OMIM:206900
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Clinodactyly of the 5th finger, Inability to walk, Hypospadias, Clubbing of fingers, Small earlob... OMIM:620083
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Progressive cerebellar ataxia, Prolonged neonatal jaundice, Dysphagia, EEG abnorma... OMIM:618868
Cerebrofacioarticular Syndrome
Caudal appendage, Camptodactyly, Micrognathia, Syndactyly, Talipes equinovarus ORPHA:314679
Down Syndrome
Bilateral single transverse palmar creases, Delayed puberty, Sandal gap, Round ear, Umbilical her... ORPHA:870
Mckusick-Kaufman Syndrome
Postaxial hand polydactyly, Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, P... OMIM:236700
Agel Amyloidosis
Corneal ulceration, Depression, Abnormal spleen morphology, Cardiomyopathy, Facial palsy, Lattice... ORPHA:85448
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Genu valgum, Anemia, Pancytopenia, Diaphyseal sclerosis, Cranial nerve compression... OMIM:259710
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Proximal placement of thumb, Hyperactivity, Bifid scrotum, Splenomegal... OMIM:270400
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Tip-toe gait, Decreased nerve conduction velocity, Emotional lability, Bilateral s... ORPHA:309256
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Ankle flexion contracture, Difficulty walking, Abnormal fear-induced behavior, Depress... ORPHA:100924
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Overlapping toe, Sacral dimple, Abnormal cortical gyration, Cyst of the ductus c... ORPHA:480880
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger... OMIM:607932
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal finge... ORPHA:2658
Prader-Willi Syndrome
Acromicria, Radial deviation of finger, Genu valgum, Scoliosis, Short foot, Kyphosis, Narrow palm... OMIM:176270
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Self-injurious behavior, Aganglionic megacolon, Clinodactyly of the 5th finger, An... ORPHA:847
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation, Cataract, L... ORPHA:171844
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Adult Syndrome
Split foot, Toe syndactyly, Finger syndactyly ORPHA:978
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Microtia, Lymphopenia, Accessory spleen,... OMIM:620005
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Anorexia, Genu valgum, Hepatomegaly, Elevated circulating hepatic transaminase con... ORPHA:394
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing im... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing im... ORPHA:353277
White-Sutton Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Astigmatism, Ventral hernia, Aggressive behavior,... ORPHA:468678
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Corneal opacity, Abnormal finger morphology, Abnormal toe morphology OMIM:163200
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Increased carrying angle, Pulmonary lymphangiectasia, Mitral valve prolapse, ... OMIM:247410
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Bifid sc... OMIM:619475
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly of the 5th finger, Scoliosis, Lower limb asymmetry, Micrognathia, Syndactyly, Brachy... ORPHA:96182
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Decreased serum insulin-like growth factor 1, Hepatomegaly, Intrahepatic cholest... OMIM:614921
Congenital Tufting Enteropathy
Cholestatic liver disease, Irritability, Corneal erosion, Punctate keratitis, Failure to thrive, ... ORPHA:92050
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Wilson Disease
Sunflower cataract, Portal fibrosis, Acute hepatic failure, Splenomegaly, Dysphagia, Hepatic stea... OMIM:277900
Khan-Khan-Katsanis Syndrome
Sacral dimple, Scoliosis, Postaxial polydactyly, Micrognathia, Patent ductus arteriosus after pre... OMIM:618460
Charge Syndrome
Delayed puberty, Absent tibia, Abnormal palmar dermatoglyphics, Bifid femur, Absent radius, Hypop... OMIM:214800
22Q11.2 Deletion Syndrome
Chronic otitis media, Corneal neovascularization, Small earlobe, Arachnodactyly, Splenomegaly, Um... ORPHA:567
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Ataxia, Dysphagia, Hypogonadotropic hypogonadism,... OMIM:614381
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormality of the upper limb,... ORPHA:1052
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Cholelithiasis, Single transverse palmar crease, Thin r... ORPHA:83617
Citrullinemia Type Ii
Irritability, Hepatomegaly, Pancreatitis, Abnormal eating behavior, Elevated circulating hepatic ... ORPHA:247585
Distal Deletion 12Q
Biliary atresia, Hyperactivity, Microtia, Pituitary adenoma, Aplasia/Hypoplasia of the middle pha... ORPHA:96149
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia inv... ORPHA:1521
Fraser Syndrome 3
Micrognathia, Cutaneous syndactyly, Short toe OMIM:617667
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Abnormal preputium morphology, Fing... ORPHA:2907
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly, Pes planus OMIM:615877
Dextrocardia
Abnormal foot morphology, Pancreatic hypoplasia, Abnormal rib morphology, Congenital hip dislocat... ORPHA:1666
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Monosomy 13Q14
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia,... ORPHA:1587
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... OMIM:201475
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Athetosis, Pigmentary retinopathy, Gait disturbance, Failure to thrive, Ataxia, Lo... OMIM:617282
Cockayne Syndrome Type 3
Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiomyopathy, Splenom... ORPHA:90324
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Sandal gap, Macrotia, Abnormality of retinal pigmentation, Abnormal retinal vascul... ORPHA:2715
Degcags Syndrome
Polydactyly, Genu valgum, Ambiguous genitalia, Hypospadias, Sacral dimple, Craniosynostosis, Chor... OMIM:619488
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Astigmatism, Abnormal pinna morphology, Prominent fingertip pads, Abnormality of v... ORPHA:480898
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Galloway-Mowat Syndrome 1
Optic atrophy, Hiatus hernia, Low-set ears, Camptodactyly, Slender finger, Hypoplasia of the iris... OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Microtia, Low-set ears, Remnants o... OMIM:614643
Acrocallosal Syndrome
Pulmonary valve defects, Abnormal pinna morphology, Bifid distal phalanx of the thumb, Umbilical ... OMIM:200990
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Flexion contracture of the 2nd finger, Joint co... ORPHA:324540
Loeys-Dietz Syndrome 1
Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Scoliosis, Postaxial hand polyd... OMIM:609192
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal middle ear morphology, Hypospadias, Aplasia/Hypoplasia of the thum... OMIM:219000
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger, Scoliosis, Micrognathia, Pes planus OMIM:301022
Neuroocular Syndrome
Prominent fingertip pads, Stellate iris, Umbilical hernia, Deep palmar crease, Patent foramen ova... OMIM:619539
Fraser Syndrome
Ambiguous genitalia, Hypospadias, Abnormal vagina morphology, Finger syndactyly, Hypoplasia of pe... ORPHA:2052
X-Linked Charcot-Marie-Tooth Disease Type 2
Steppage gait, Sensorineural hearing impairment, Gait disturbance, Optic neuropathy, Hand muscle ... ORPHA:101076
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Dysphagia, Umbilical hernia, Bicuspid aorti... OMIM:300855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Bone marrow hypocellularity, Leukopenia,... OMIM:615688
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr... ORPHA:263479
Wolfram Syndrome
Optic atrophy, Polydipsia, Delayed puberty, Anemia, Diabetes insipidus, Sensorineural hearing imp... ORPHA:3463
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physio... ORPHA:85451
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Depression, Recurr... ORPHA:449291
Craniofaciofrontodigital Syndrome
Large for gestational age, Cardiomegaly, Palmoplantar cutis laxa, Abnormal heart valve morphology... ORPHA:363705
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Cardiomegaly, Congenital hydrocele, Parotitis, Increased B cell c... OMIM:620376
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Optic atrophy, Clitoral hypertrophy, Gait ataxia, Failure to thrive, Ataxia, Cataract, Ambiguous ... ORPHA:543470
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Peripheral schwannoma, Sensorineural hearing i... ORPHA:637
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Sh... OMIM:261540
Jacobsen Syndrome
Talipes, Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis, Missing ribs, Toe c... ORPHA:2308
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Hypoplastic f... OMIM:208400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Intellectual Developmental Disorder, Autosomal Dominant 29
Astigmatism, Sandal gap, Hyperactivity, Low-set ears, Frequent temper tantrums, Hearing impairmen... OMIM:616078
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Abnormal metacarpal morphology, Conductive hearing impairment, Sclerocornea, Umbilic... ORPHA:2095
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Corneal opacity, Female hypogonadism, Aortic valve stenosis, Abnormal mi... ORPHA:740
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Anemia, Finger syndactyly, Abnormal dental enamel morphology, Phimosis, Cor... ORPHA:2908
Lathosterolosis
Bilobate gallbladder, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Intrahepatic ch... OMIM:607330
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, EEG abn... OMIM:261680
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Clinodactyly of the 5th finger, Retinal dystrophy, Dislocated radial head, Hyperac... OMIM:619512
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Progressive cerebellar ataxia, Sensorineural hearing impairment, Dysdiadochokinesi... ORPHA:504476
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Low-set ears, Hand clenching, Hip contracture, Flexion ... OMIM:617301
Alagille Syndrome 1
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:118450
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... ORPHA:3044
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Loeys-Dietz Syndrome 2
Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Absent distal phalanges, Scolio... OMIM:610168
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Small earlobe, Corneal opacity, Hearing impairment,... ORPHA:364577
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Monosomy 22
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Sho... ORPHA:96123
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Depression, Emotional lab... ORPHA:309271
Friedreich Ataxia
Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Hypertrophic cardiomyopa... OMIM:229300
Brain-Lung-Thyroid Syndrome
Hyperactivity, Sensorineural hearing impairment, Ataxia, Abnormal eating behavior, Abnormal cardi... ORPHA:209905
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Decreased liver function, Hepatomegaly, Anemia, Truncal ataxia, Sensorineural hear... OMIM:220110
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Patent foramen ovale, Ataxia, Left ventricular hypertrophy, Dilated cardiomyopathy,... OMIM:619167
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Radial deviation of finger, Sandal gap, Pectus carinatum, Scoliosis, Short neck, Long hallux, Syn... OMIM:618164
Fraser Syndrome 2
Short thorax, Short neck, Cutaneous syndactyly OMIM:617666
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Macrotia, Leukocoria, Cataract, Thic... ORPHA:2714
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2750
Congenital Syphilis
Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Tibial bowing, Chorioretinitis... ORPHA:499009
Aicardi-Goutières Syndrome
Lipoatrophy, Irritability, Difficulty walking, Developmental glaucoma, Panniculitis, Elevated cir... ORPHA:51
Early Infantile Epileptic Encephalopathy
Broad finger, Short finger, EEG with spike-wave complexes, Hyperactivity, Broad phalanx of the to... ORPHA:1934
Cerebrooculonasal Syndrome
Postaxial polydactyly, Craniosynostosis, Hypoplastic male external genitalia, Postaxial hand poly... OMIM:605627
Geleophysic Dysplasia 3
Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move... OMIM:617809
Giant Cell Arteritis
Optic atrophy, Anorexia, Mediastinal lymphadenopathy, Diabetes insipidus, Depression, Double outl... ORPHA:397
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:667
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Abnormal female external genitalia morphology, Ambiguous genitalia, Corneal er... ORPHA:920
Mucolipidosis Iii Gamma
Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Finger jo... OMIM:252605
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Depression, Emotional lability, Scapular winging, Gait disturbance, Impulsivity, L... OMIM:614298
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Difficulty walking, Inability to walk, Hammertoe, Sensorineural hearing impairment... ORPHA:99949
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Premature pubarche, Elevated circulating hepatic transaminase concentration, Oral-... OMIM:616878
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Atrial septal defect, Patent foramen ovale, Left ventricular noncompaction, Vent... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Difficulty walking, Hepatomegaly, Inability to walk, H... ORPHA:365
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pelvic girdle bone morphology, ... OMIM:101400
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n... OMIM:231550
Digeorge Syndrome
Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu... OMIM:188400
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Corneal dystrophy, Microcornea, Hearing impairment, Sclerocornea, Cataract, Kerat... ORPHA:1806
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, I... OMIM:613457
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Melas
Sensorineural hearing impairment, Cardiomyopathy, Ataxia, Recurrent pancreatitis, Type I diabetes... ORPHA:550
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5th finger, Ventr... OMIM:608670
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul... OMIM:618278
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Astigmatism, Clinodactyly of the 5th finger, Single transverse palmar creas... OMIM:244450
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal hypertrophy, Inguinal hernia, Single transverse palmar crease, ... OMIM:614947
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia, Hyp... OMIM:610651
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Prolonged neonatal jaundice, Obesity, Ataxia, Pigmentary retinop... OMIM:612291
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:255120
Dysosteosclerosis
Optic atrophy, Abnormal metaphysis morphology, Abnormal cranial nerve morphology, Abnormal dental... ORPHA:1782
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, Hypos... OMIM:107480
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Abnormal thumb morphology, Posterior subcapsular cataract, Limited elbow extension... ORPHA:67036
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
De Sanctis-Cacchione Syndrome
Optic atrophy, Scissor gait, Axonal degeneration, Sensorineural hearing impairment, Bilateral cox... OMIM:278800
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Chromosome 1P36 Deletion Syndrome, Distal
Asymmetry of the ears, Self-mutilation, Microtia, Sensorineural hearing impairment, Dysphagia, Bi... OMIM:607872
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Cataract, Stomatocytosis, Nuclea... OMIM:608885
Phace Syndrome
Retinal vascular malformation, Abnormal cardiac septum morphology, Optic nerve hypoplasia, Hetero... ORPHA:42775
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Normocytic anemia, Akinesia, Hammertoe, Inguinal hernia, Elbow flexion contra... OMIM:618947
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Sensorineural heari... OMIM:616975
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pectus carinatum, Bifid scrotum, Pectus excavatum, Arachnodactyly, Syndactyly, Septate vagina, Ad... ORPHA:261537
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy, Abnormal pinna morph... OMIM:614195
Xeroderma Pigmentosum
Optic atrophy, Pterygium, Sensorineural hearing impairment, Conjunctival telangiectasia, Decrease... ORPHA:910
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Papillede... OMIM:618775
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Inability to walk, Deep palmar crease, Patent foramen ova... ORPHA:505248
Argininemia
Spastic gait, Irritability, Anorexia, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase... OMIM:207800
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Bilateral sensorineural h... ORPHA:309263
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Absent t... OMIM:227650
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Cutaneous finger syndactyly, Shortening of all... OMIM:211380
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Behçet Disease
Anorexia, Irritability, Pancreatitis, Lymphadenopathy, Optic neuritis, Gait disturbance, Retinopa... ORPHA:117
Rapp-Hodgkin Syndrome
Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly OMIM:129400
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidi... OMIM:269200
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Multiple rib fractures OMIM:612301
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Pectus carinatum, Micrognathia, Syndactyly, Brachydactyly, Hip dysplasia OMIM:620654
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Bilater... OMIM:268315
Xfe Progeroid Syndrome
Optic atrophy, Premature ovarian insufficiency, Elevated circulating hepatic transaminase concent... OMIM:610965
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Zonular cataract, Macrotia, Hepatosplenomegaly, Ataxia, B... ORPHA:168577
Okamoto Syndrome
Polydactyly, Talipes, Scoliosis, Prominent metopic ridge, Bifid uterus, Hip dysplasia ORPHA:2729
Holoprosencephaly
Congenital diaphragmatic hernia, Hypoplasia of penis, Abnormal pinna morphology, Retinopathy, Opt... ORPHA:2162
Pagod Syndrome
Optic atrophy, Situs inversus totalis, Congenital diaphragmatic hernia, Abnormal testis morpholog... ORPHA:991
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Re... ORPHA:98977
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Diabetes insipidus, Depression, Sensorineural hearing impairment, De... ORPHA:96180
Coffin-Siris Syndrome
Hypospadias, Hyperactivity, Ventricular septal defect, Papillary thyroid carcinoma, Hearing impai... ORPHA:1465
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic ... OMIM:618329
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Lcat Deficiency
Corneal opacity, Hemolytic anemia ORPHA:650
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Inability to walk, Congenital hip dislocation, Epiphyseal dysplasia, Splenomegaly,... OMIM:617913
Mowat-Wilson Syndrome
Pectus carinatum, Bifid scrotum, Pectus excavatum, Syndactyly, Septate vagina, Adducted thumb, Lo... ORPHA:2152
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Hyperactivity, Optic nerve hypoplasia, Abnormal heart morphology, Dysphagia, ... ORPHA:508488
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Micrognathia, Di... ORPHA:125
Alzahrani-Kuwahara Syndrome
Tip-toe gait, Astigmatism, Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Low-set... OMIM:619268
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Abnormal earlobe morphology, Splenomegaly, Umbi... ORPHA:116
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment, Decreased circulating cortisol level, Anemia OMIM:618838
Biotinidase Deficiency
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Ataxia, Splenomegaly, Conjunctivitis OMIM:253260
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect... OMIM:610125
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Rectovaginal fistula, Knee flexion contracture, Bilateral talipes equinovarus, Ata... OMIM:619708
Arboleda-Tham Syndrome
Chronic otitis media, Sandal gap, Small earlobe, Underdeveloped tragus, Pulmonic stenosis, Upper ... OMIM:616268
Tyrosinemia Type 2
Palmoplantar keratoderma, Corneal opacity, Ataxia ORPHA:28378
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Protruding ear, Inguinal hernia, Low-set ears, Bilateral cryptorchidism, Ca... OMIM:617403
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Gapo Syndrome
Optic atrophy, Breast hypoplasia, Hepatomegaly, Keratoconus, Hypoplastic nipples, Facial palsy, M... OMIM:230740
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... OMIM:149730
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Truncal ataxia, Optic neuropathy, Hearing impairment, Failure to thrive,... OMIM:618249
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Gait ... ORPHA:255210
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Corneal dystrophy, Heterochromia iridis, Conjunctival telangie... ORPHA:3205
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Proximal placement of thumb, Hypospadias, Inguinal hernia, Low-set, posteriorly ro... ORPHA:487796
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Cirrhosis, Hepatomegaly, Epiphyseal stippling, Sensorineural hearing impairment, H... OMIM:601539
Isolated Complex I Deficiency
Hepatomegaly, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Optic neuropathy, Fa... ORPHA:2609
Glycogen Storage Disease Ii
Difficulty walking, Hepatomegaly, Hearing impairment, Splenomegaly, Cardiomegaly OMIM:232300
African Trypanosomiasis
Abnormality of the endocrine system, Optic neuritis, Impotence, Abnormal growth hormone level, Pe... ORPHA:3385
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Iris atrophy, Bifid scrotum, Pulmonic stenosis, Arachnodactyly,... ORPHA:261552
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Corneal opacity, Aortic valve stenosis, Retinopathy, Lipodystrophy, Mul... ORPHA:2396
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ... ORPHA:3240
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Orthostatic hypotension, Loss of subcutaneous adipose tissu... OMIM:606721
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:308552
Trichorhinophalangeal Syndrome, Type Ii
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... OMIM:150230
Cystinosis, Nephropathic
Recurrent corneal erosions, Polydipsia, Delayed puberty, Genu valgum, Hepatomegaly, Male infertil... OMIM:219800
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Abnormal earlobe morphology, Ventricular septal defect, Precocious puberty, Umbilic... ORPHA:96191
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Cupped ear, Hypospadias, Small for gestational age, Hyperactivity, Tapered finger,... OMIM:309590
Arima Syndrome
Optic atrophy, Polydipsia, Cirrhosis, Hepatomegaly, Anemia, Retinal dystrophy, Postaxial hand pol... OMIM:243910
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Cardiomyopathy, Omphalocel... OMIM:130650
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Anemia, Congenital hypoparathyro... ORPHA:93325
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Optic atrophy, Clinodactyly of the 5th finger, Hypospadias, Cone-shaped epiphyses of the phalange... OMIM:210730
Proboscis Lateralis
External genital hypoplasia, Optic nerve hypoplasia, Microcornea, Corneal opacity, Chorioretinal ... ORPHA:141099
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal atrophy, Hypochromia, Photoreceptor laye... OMIM:616959
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus excavatum, Short toe, Brachydactyly ORPHA:1519
Craniosynostosis And Dental Anomalies
2-3 toe syndactyly, Short phalanx of finger, Broad hallux, Hallux valgus, Clinodactyly OMIM:614188
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Palmoplantar keratoderma, Micrognathia, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:1071
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Oculoectodermal Syndrome
Astigmatism, Hyperactivity, Microcornea, Chorioretinal atrophy, Hypertrophic cardiomyopathy, Limb... OMIM:600268
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Scoliosis, Abnormal digit... ORPHA:2363
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal cranial nerve morphology, F... ORPHA:90340
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Anemia, Atrophic scars, Corneal opacity, Enamel hypoplasia, Failure to thrive, Palmopla... ORPHA:79396
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri... ORPHA:1329
Dubowitz Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Single transverse palmar crease, Micrognathia, Syn... OMIM:223370
Kenny-Caffey Syndrome, Type 2
Anemia, Hypoparathyroidism, Abnormality of the medullary cavity of the long bones, Retinal calcif... OMIM:127000
Wolfram Syndrome 2
Optic atrophy, Diabetes insipidus, Depression, Sensorineural hearing impairment, Optic neuropathy... OMIM:604928
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Radial deviation of finger, Proximal placement of thumb, Hyperac... OMIM:613406
Xq21 Microdeletion Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Decreased response to growth hormone stimulatio... ORPHA:1435
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Emotional lability, Dysdiadochokinesis, Impulsivity, Gait ataxia, D... OMIM:610217
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Retinal hemorrh... OMIM:175780
Craniopharyngioma
Optic atrophy, Enlarged pituitary gland, Delayed puberty, Central diabetes insipidus, Pituitary h... ORPHA:54595
Tuberous Sclerosis Complex
Retinal hamartoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Hyperactivity, Pheochromocyto... ORPHA:805
Hartsfield Syndrome
Ectrodactyly, Syndactyly OMIM:615465
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Rodrigues Blindness
Protruding ear, Microcornea, Sclerocornea OMIM:268320
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Akinesia, Hyperactivity, Depression, Gait disturbance,... OMIM:234200
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Schwannomatosis, Vestibular
Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac... OMIM:101000
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Autosomal Dominant Cutis Laxa
Inguinal hernia, Corneal opacity, Low-set ears, Developmental cataract, Dilatation of the ventric... ORPHA:90348
Generalized Arterial Calcification Of Infancy
Mixed hearing impairment, Sensorineural hearing impairment, Ventricular hypertrophy, Pancreatic c... ORPHA:51608
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Keratoconjunctivitis, Hearing impairment, Cataract, Eosinophilia, Opa... OMIM:158310
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P... OMIM:305000
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Retinal detachment, Adrenal ph... ORPHA:892
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification... ORPHA:228308
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion,... OMIM:261740
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Genu valgum, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, L... OMIM:619321
Phace Association
Optic atrophy, Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Increas... OMIM:606519
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormal emotion, Difficulty walking, Anemia, Abnormal hip bone morphology, Nail-biting, Corneal ... ORPHA:642
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Dermochondrocorneal Dystrophy
Abnormality of the hand, Corneal dystrophy, Subepithelial corneal opacities, Irregular tarsal oss... OMIM:221800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Developmental cataract, Flexion contracture, Elevated circulati... OMIM:613154
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Failure to thrive, Sclerocornea, Dilated... OMIM:300952
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, External genital hypoplasia, Jaundice, Elevated circulating hepatic transaminase c... OMIM:614231
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Scarring, Breast aplasia, Retinal detachment, Retinal vascular ... OMIM:308300
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Eye poking, Pigmentary retinopathy, Attenuation of retinal blood ... OMIM:613843
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Pallister-Killian Syndrome
Kyphoscoliosis, Edema of the dorsum of feet, Hip dislocation, Sacral dimple, Rhizomelia, Postaxia... OMIM:601803
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Radial deviation of finger, Hyperactivity, Sensorineural hearing impairment, Microtia, Hypogonadi... OMIM:309580
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Astigmatism, Protruding ear, Broad-ba... OMIM:614756
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Abnormality of connective tissue, Inguinal hernia, Abnormality iris morphology, Ara... ORPHA:91387
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula ORPHA:309246
Microphthalmia, Syndromic 1
Kyphoscoliosis, Radial deviation of finger, Narrow chest, Short clavicles, Scoliosis, Prominent f... OMIM:309800
Knobloch Syndrome 1
Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre... OMIM:267750
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Micrognathia, Syndactyly OMIM:618820
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Anterior chamber cells, Retinal hemorrhage, Depigmented fu... ORPHA:79098
Leptospirosis
Anorexia, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cotto... ORPHA:509
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Sensorineural hearing impairment, Retinopathy, Ataxia, Splenomegaly... OMIM:615636
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Cardiomegaly, Truncal ataxia, Partial atrioventricular canal defect, Secundum ... OMIM:620066
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Oligomenorrhea, Obesity, Pituitary adenoma, A... OMIM:219090
Naxos Disease
Right ventricular cardiomyopathy, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, ... OMIM:601214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Anemia, Inability to walk, Broad-based gait, Abnormality of the endocrine s... ORPHA:438213
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Truncus Arteriosus
Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,... ORPHA:3384
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... ORPHA:71505
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal atrophy, Megalocornea, Hypoplasia of the r... OMIM:253280
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma, Hearing impairment, Tinnitus ORPHA:79280
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Fontaine Progeroid Syndrome
Deep palmar crease, Platyspondyly, Scoliosis, Absent distal phalanges, Micrognathia, Syndactyly, ... OMIM:612289
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Hypospadias, Ingui... OMIM:308205
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Vitreous hemorrhage, Choroidal neovascularizatio... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Bile duct proliferation, Broad th... OMIM:619534
Congenital Tracheomalacia
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary ve... ORPHA:95430
Pmm2-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal pinna morphology, Photoreceptor... ORPHA:79318
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Ca... ORPHA:75565
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Fatigable wea... ORPHA:284339
Ramon Syndrome
Enlarged labia minora, Axenfeld anomaly, Pigmentary retinopathy, Decreased body weight, Hearing i... OMIM:266270
Noonan Syndrome 1
Male infertility, Radial deviation of finger, Cubitus valgus, Micrognathia, Brachydactyly, Hypogo... OMIM:163950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Retinal dysplasia, Decreased testicular size, Opacification of the corneal... OMIM:615287
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Holoprosencephaly 2
Iris coloboma, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of t... OMIM:157170
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Acute Promyelocytic Leukemia
Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, Leukopenia,... ORPHA:520

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zbtb16

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zbtb16.

No publications found that use IMPC mice or data for Zbtb16.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Zbtb16tm405544(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zbtb16em1(IMPC)Mbp Exon Deletion Mice, Tissue

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