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Gene: Cwc22 MGI:2136773

Gene Summary

Name:

CWC22 spliceosome-associated protein

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Cwc22^em1(IMPC)Mbp	HOM	Early adult	0.00
microcephaly	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
anophthalmia	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
urinary bladder obstruction	Cwc22^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating aspartate transaminase level	Cwc22^em1(IMPC)Mbp	HET	Late adult	3.12×10^-05
polydactyly	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Cwc22^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
increased bone mineral content	Cwc22^em1(IMPC)Mbp	HET	Late adult	2.99×10^-12
abnormal liver morphology	Cwc22^em1(IMPC)Mbp	HET	Late adult	0.00
syndactyly	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
hemorrhage	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
prenatal lethality prior to heart atrial septation	Cwc22^em1(IMPC)Mbp	HOM	E15.5	0.00
spina bifida	Cwc22^em1(IMPC)Mbp	HET	E15.5	0.00
embryonic lethality prior to organogenesis	Cwc22^em1(IMPC)Mbp	HOM	E9.5	0.00
cystolithiasis	Cwc22^em1(IMPC)Mbp	HET	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cwc22 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.

Human diseases associated with Cwc22 (0 diseases)
Human diseases predicted to be associated with Cwc22 (894 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cwc22 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gombo Syndrome	Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac...	OMIM:615938
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly, Microcephaly	OMIM:241000
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation	Syndactyly, Microcephaly	OMIM:271109
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida...	ORPHA:64754
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova...	OMIM:613885
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly	ORPHA:3434
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Congenital Varicella Syndrome	Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly	ORPHA:291
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f...	OMIM:600384
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age...	OMIM:616570
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu...	OMIM:164180
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Acalvaria	Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of...	ORPHA:945
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort...	OMIM:615771
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T...	OMIM:211960
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda...	ORPHA:139471
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,...	ORPHA:3265
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion...	OMIM:206920
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Microcephaly-Cardiomyopathy	Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly	OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of...	ORPHA:3268
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly	OMIM:213010
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly	ORPHA:238446
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Microcephaly	OMIM:614082
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h...	OMIM:611134
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ...	OMIM:615665
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Lissencephaly 8	Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas...	OMIM:617255
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Spina bifida	ORPHA:1104
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long...	OMIM:603546
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,...	OMIM:602501
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ...	ORPHA:166024
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Feingold Syndrome Type 2	Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An...	ORPHA:2189
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca...	OMIM:613155
Seckel Syndrome 2	Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Septooptic Dysplasia	Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge...	OMIM:182230
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Schisis Association	Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly	ORPHA:63862
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly	OMIM:617119
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi...	ORPHA:1327
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly	OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius, Microcephaly	ORPHA:3469
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Hartsfield Syndrome	Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap...	ORPHA:2117
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger	OMIM:618725
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly	ORPHA:324416
Frontonasal Dysplasia 1	Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy...	OMIM:136760
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c...	OMIM:300863
Temtamy Syndrome	Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t...	ORPHA:1777
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh...	ORPHA:1120
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ...	ORPHA:370010
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr...	ORPHA:1908
Microphthalmia, Syndromic 8	Microphthalmia, Split foot, Microcephaly	OMIM:601349
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Microcephaly	OMIM:619981
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Walker-Warburg Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ...	ORPHA:899
Nanophthalmos	Microphthalmia	ORPHA:35612
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Microcephaly	ORPHA:2528
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Cofs Syndrome	Cerebral calcification, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cerebell...	ORPHA:1466
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly	ORPHA:261272
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Hypomelanosis Of Ito	Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce...	OMIM:300337
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease	OMIM:600251
Trisomy 1Q	Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,...	ORPHA:261344
Adams-Oliver Syndrome 3	Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ...	OMIM:614814
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic...	OMIM:300887
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl...	OMIM:619091
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum	ORPHA:411986
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral...	OMIM:600118
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Macrocephaly, Large ha...	ORPHA:3219
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L...	OMIM:601707
Fanconi Anemia, Complementation Group R	Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia	OMIM:617244
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly	OMIM:147250
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph...	OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,...	OMIM:616038
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ...	OMIM:251270
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Summitt Syndrome	Syndactyly	OMIM:272350
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co...	OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus...	ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of...	OMIM:615181
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum	ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos...	OMIM:603387
Periventricular Nodular Heterotopia 1	Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ...	OMIM:300049
Pierpont Syndrome	Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr...	ORPHA:487825
Microphthalmia, Syndromic 13	Microphthalmia, Microcephaly	OMIM:300915
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ...	ORPHA:3378
Joubert Syndrome 16	Encephalocele, Polydactyly, Dandy-Walker malformation	OMIM:614465
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Moebius Syndrome	Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy...	OMIM:157900
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ...	OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp...	OMIM:613153
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o...	ORPHA:3210
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia	ORPHA:66625
Adams-Oliver Syndrome 2	Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha...	OMIM:614219
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:77298
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Pierpont Syndrome	Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Pr...	OMIM:602342
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl...	OMIM:161200
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum...	OMIM:613776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,...	ORPHA:93267
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly	OMIM:614845
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Grange Syndrome	Aortic regurgitation, Syndactyly, Hypertension, Short palm	ORPHA:79094
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly	OMIM:300804
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared metaphysis, Hip...	OMIM:610758
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5...	OMIM:274000
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic...	OMIM:615249
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C...	ORPHA:2092
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o...	OMIM:607131
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b...	ORPHA:99776
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P...	ORPHA:564
Axial Osteomalacia	Osteomalacia, Increased bone mineral density, Polycystic liver disease, Elevated circulating crea...	OMIM:109130
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla...	ORPHA:508498
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ...	OMIM:109400
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,...	OMIM:614815
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly...	OMIM:605627
Monosomy 5P	Finger syndactyly, Small hand, Microcephaly	ORPHA:281
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn...	ORPHA:2538
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension...	ORPHA:974
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly...	OMIM:614424
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia, Microcephaly	OMIM:616910
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Spina bifida	ORPHA:2345
Diabetic Embryopathy	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi...	ORPHA:1926
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Agenesis of cor...	ORPHA:264200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos...	OMIM:251230
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo...	OMIM:258860
Cerebrocostomandibular Syndrome	Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Myelomeningocele, Porencepha...	ORPHA:1393
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly	ORPHA:858
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Trisomy 18	Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Apl...	ORPHA:3380
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C...	ORPHA:60040
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly	OMIM:610756
Bresek Syndrome	Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Microphthalmia	ORPHA:85284
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis...	ORPHA:3412
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ...	OMIM:614833
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral...	ORPHA:1101
Neu-Laxova Syndrome 1	Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin...	OMIM:256520
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Relative macrocephaly, Polydactyly, Upper limb asymmetry	ORPHA:231140
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ...	OMIM:618142
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation	ORPHA:404451
20P13 Microdeletion Syndrome	Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly	ORPHA:313781
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Temtamy Syndrome	Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,...	OMIM:218340
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati...	OMIM:214150
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ...	OMIM:615996
Ring Chromosome 21 Syndrome	Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Holoprosencephaly	Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Spinal cord tumor, Aplasia/Hypoplasia o...	ORPHA:2162
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly	OMIM:616490
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
Sandestig-Stefanova Syndrome	Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Micro...	OMIM:618804
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal...	ORPHA:1692
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere...	ORPHA:435638
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia	OMIM:613730
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t...	ORPHA:370959
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Macrocephaly, Camptodac...	ORPHA:251038
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty...	ORPHA:59315
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Martsolf Syndrome 1	Short metacarpal, Cardiac arrest, Microcephaly, Metatarsus adductus, Slender ulna, Short toe, Ost...	OMIM:212720
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Monosomy 18P	Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly	ORPHA:1598
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger	ORPHA:48431
Warburg Micro Syndrome 2	Overlapping toe, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Global ...	OMIM:614225
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia	OMIM:618805
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ...	ORPHA:1352
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly	OMIM:600151
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th...	OMIM:616362
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly	ORPHA:77299
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases, Secondary microcephaly	OMIM:618652
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Holt-Oram Syndrome	Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent...	ORPHA:392
Joubert Syndrome 33	Syndactyly, Macrocephaly	OMIM:617767
Frontorhiny	Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal...	ORPHA:391474
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Hypoplasia of the ...	OMIM:611560
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor...	OMIM:614643
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum	OMIM:614583
Sirenomelia	Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia	ORPHA:3169
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Postaxial hand po...	OMIM:610829
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte...	OMIM:619135
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh...	ORPHA:2994
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Microcephaly	ORPHA:290
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Microcephaly	OMIM:615284
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met...	OMIM:252100
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly	OMIM:602361
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Microcephaly, Sh...	OMIM:619148
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly	OMIM:617883
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Macroce...	ORPHA:3447
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Broad hallux, Single transverse palmar crease, Microcephaly, Hypoplasia of the corpus callosum, M...	OMIM:614105
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti...	OMIM:613684
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Posta...	OMIM:264480
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo...	OMIM:607597
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, Clinodactyly of...	OMIM:619721
Hallermann-Streiff Syndrome	Abnormality of the hand, Microcephaly, Spina bifida, Metaphyseal widening, Telangiectasia, Slende...	OMIM:234100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly	OMIM:619092
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Hand polydactyly, ...	ORPHA:250989
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, Microcephaly, 2-3 toe cutaneous syndactyly, Phthisis bulb...	OMIM:300166
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti...	OMIM:607323
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Global brain atrophy, Microcephaly	OMIM:308350
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car...	ORPHA:175
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce...	ORPHA:2671
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Cavum septum...	OMIM:617306
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia...	OMIM:616920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u...	ORPHA:163649
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip...	ORPHA:261318
Stevenson-Carey Syndrome	Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphth...	OMIM:611961
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly	OMIM:619318
Filippi Syndrome	Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c...	OMIM:272440
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Joubert Syndrome 37	Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polyda...	OMIM:619185
Ring Chromosome 10 Syndrome	Microphthalmia, Sandal gap, Tapered finger	ORPHA:1438
Oculofaciocardiodental Syndrome	Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2...	ORPHA:2712
Pelger-Huet Anomaly	Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short ...	OMIM:169400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce...	OMIM:277170
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, C...	ORPHA:397590
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypop...	OMIM:236500
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t...	OMIM:616538
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Partial ag...	OMIM:304050
Cockayne Syndrome Type 2	Anophthalmia, Subcortical white matter calcifications	ORPHA:90322
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Marden-Walker Syndrome	Arachnodactyly, Microcephaly, Radioulnar synostosis, Hypoplasia of the brainstem, Talipes equinov...	OMIM:248700
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t...	ORPHA:464738
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage	ORPHA:335
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Hypopl...	OMIM:609053
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation...	ORPHA:2308
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Baraitser-Winter Syndrome 1	Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Microphthalmia, Aortic valve steno...	OMIM:243310
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, Overlapping toe, Cerebral atrophy, Hip dysplasia, Hypoplasia of the...	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly, Microcephaly	ORPHA:1942
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi...	OMIM:617895
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb	OMIM:239710
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po...	OMIM:603671
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Oculopalatocerebral Syndrome	Microphthalmia, Microcephaly	OMIM:257910
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Tethered cord, Microcephaly, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis	OMIM:617660
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Triploidy	Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro...	ORPHA:3376
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly	OMIM:616589
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Microcephaly	ORPHA:2728
Cloacal Exstrophy	Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal...	ORPHA:93929
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial...	OMIM:100300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism	OMIM:612918
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus...	OMIM:206900
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypoplasia	OMIM:613792
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Pulmonary ar...	OMIM:616449
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Microphthalmia...	OMIM:244300
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac...	OMIM:619451
Warburg Micro Syndrome 3	Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ...	OMIM:614222
Oculo-Palato-Cerebral Syndrome	Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Microphthalmia, ...	ORPHA:2714
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Cerebellar hypopl...	OMIM:612530
Multiple Benign Circumferential Skin Creases On Limbs	Microcephaly, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia	ORPHA:2505
Refsum Disease	Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht...	ORPHA:773
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Holoprosencephaly, Hypoplasia o...	ORPHA:1587
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce...	OMIM:219000
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre...	OMIM:616300
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap...	OMIM:609638
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Microcephaly	ORPHA:544254
Desbuquois Dysplasia 2	Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M...	OMIM:615777
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic...	OMIM:272950
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Macrocephaly, ...	ORPHA:93400
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease	OMIM:619053
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto...	ORPHA:1788
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis...	OMIM:212780
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos...	ORPHA:568
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy	ORPHA:2874
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod...	OMIM:300963
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta	ORPHA:2475
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th f...	OMIM:620098
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd...	OMIM:243605
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Syringomyelia, Polydactyly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:531151
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm	ORPHA:73246
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl...	OMIM:600987
Alkuraya-Kucinskas Syndrome	Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the cor...	OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ...	OMIM:253800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum, Short palm, Microphthalmia	OMIM:241410
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha...	ORPHA:891
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,...	ORPHA:435938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy...	OMIM:613150
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi...	ORPHA:404440
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender...	ORPHA:193
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph...	ORPHA:3224
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f...	ORPHA:1786
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus...	ORPHA:3186
Aarskog-Scott Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai...	ORPHA:915
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Galloway-Mowat Syndrome 3	Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Hypert...	OMIM:617729
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ...	OMIM:615636
Joubert Syndrome 27	Polydactyly	OMIM:617120
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Microcephaly	ORPHA:2399
Methylcobalamin Deficiency Type Cble	Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of...	ORPHA:2169
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningoce...	ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly	OMIM:618087
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o...	OMIM:180849
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,...	ORPHA:401973
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
3Q29 Microdeletion Syndrome	Microcephaly, Tapered finger, Pulmonary arterial hypertension, Macrocephaly, Clinodactyly of the ...	ORPHA:65286
Cockayne Syndrome Type 1	Basal ganglia calcification, Anophthalmia, Hypertension	ORPHA:90321
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio...	OMIM:162200
Fraser Syndrome	Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, U...	ORPHA:2052
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Hydrocephalus, Postaxia...	OMIM:608091
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp...	OMIM:192350
Pagod Syndrome	Encephalocele, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrhythmia	ORPHA:991
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo...	OMIM:156610
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut...	OMIM:257850
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Macrocephaly	OMIM:615085
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C...	ORPHA:369891
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypopla...	OMIM:613001
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb	OMIM:618874
Oculodentodigital Dysplasia	Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnormal cereb...	OMIM:164200
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly...	OMIM:311900
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,...	ORPHA:363958
Galloway-Mowat Syndrome 1	Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem, ...	OMIM:251300
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger...	ORPHA:90652
Fanconi Anemia, Complementation Group F	Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microph...	OMIM:603467
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Lobar h...	OMIM:614701
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe...	ORPHA:254346
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb	ORPHA:2250
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,...	ORPHA:464
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ...	ORPHA:1005
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dil...	ORPHA:2556
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Mac...	ORPHA:1001
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre...	ORPHA:2754
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas...	OMIM:615789
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p...	ORPHA:1234
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the...	ORPHA:2166
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb, Bilateral sin...	ORPHA:1236
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand, Relative macrocephaly	OMIM:616489
Charge Syndrome	Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aqueductal stenosis, Abnormal t...	ORPHA:138
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi...	OMIM:600145
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Oliver Syndrome	Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr...	ORPHA:2920
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis	OMIM:601186
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Macu...	OMIM:300960
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:66629
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Simplified gyral pattern, Microcephaly	OMIM:152950
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation	OMIM:220210
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta...	OMIM:619562
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m...	ORPHA:284160
Warburg Micro Syndrome 4	Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphtha...	OMIM:615663
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephaly, Umbilical he...	ORPHA:2311
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus...	OMIM:616546
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Brachydactyly	ORPHA:2145
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum	ORPHA:1791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim...	ORPHA:96334
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Cerebellar vermis hypoplasia, Absent sep...	ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men...	OMIM:236670
Waardenburg Syndrome, Type 1	Myelomeningocele, Hypoplastic iris stroma, Spina bifida	OMIM:193500
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,...	OMIM:614576
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph...	OMIM:184705
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Cerebellar hypoplasia, Sho...	OMIM:217980
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly...	ORPHA:3255
Atelis Syndrome 2	Single transverse palmar crease, Microcephaly, Supravalvar pulmonary stenosis, Vitreous hemorrhag...	OMIM:620185
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t...	OMIM:600901
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia, A...	OMIM:614230
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hip dysplasia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum	ORPHA:494344
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Orofaciodigital Syndrome I	Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydro...	OMIM:311200
Kbg Syndrome	Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly	ORPHA:2332
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, S...	ORPHA:1323
Lethal Acantholytic Erosive Disorder	4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc...	ORPHA:158687
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag...	ORPHA:3301
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno...	ORPHA:468631
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial...	OMIM:249000
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha...	ORPHA:783
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Fetal Alcohol Syndrome	Microphthalmia, Biparietal narrowing, Microcephaly	ORPHA:1915
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mi...	OMIM:214800
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria	OMIM:612379
Apert Syndrome	Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ...	OMIM:101200
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar crease, Polydactyly, Lisse...	OMIM:247200
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot...	ORPHA:2008
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t...	OMIM:227650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum	ORPHA:268249
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra...	OMIM:601005
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Micro Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Lissenceph...	ORPHA:2510
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/apl...	ORPHA:306542
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr...	OMIM:617527
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Telangiectasia, Corneal neovascularization, Microcephaly	OMIM:278730
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,...	OMIM:305400
Monosomy 9Q22.3	Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce...	ORPHA:77301
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Thin corpus...	OMIM:619480
Myhre Syndrome	Overlapping toe, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-shaped epiphysis...	OMIM:139210
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctional ectopic tachy...	OMIM:309801
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Adams-Oliver Syndrome 5	Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly	OMIM:616028
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of...	ORPHA:1512
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Macrocepha...	OMIM:614099
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M...	ORPHA:1517
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Macroce...	OMIM:601812
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Microcephaly	ORPHA:2526
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ...	OMIM:180860
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand...	ORPHA:2211
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal	ORPHA:1787
Kenny-Caffey Syndrome, Type 2	Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex of long bones, Abnorm...	OMIM:127000
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of...	OMIM:151050
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl...	ORPHA:217346
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe	OMIM:618571
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Overlapping fingers	OMIM:618316
3C Syndrome	Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Macrocephaly, A...	ORPHA:7
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr...	ORPHA:93932
Jacobsen Syndrome	Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Macrocephaly, Clinodactyly of...	OMIM:147791
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c...	ORPHA:141099
Ring Chromosome 12 Syndrome	Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly	ORPHA:1439
Branchiooculofacial Syndrome	Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ...	OMIM:113620
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,...	ORPHA:404448
Split Cord Malformation	Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin...	ORPHA:573278
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Hip dislocation, Umbi...	OMIM:613884
Cerebrofacioarticular Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin...	ORPHA:314679
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,...	ORPHA:2710
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss...	OMIM:210710
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Kapur-Toriello Syndrome	Microphthalmia, Pachygyria, Dysplastic corpus callosum, Polymicrogyria	ORPHA:2328
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,...	OMIM:123450
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly	ORPHA:178303
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal...	ORPHA:2612
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p...	OMIM:236680
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Frontonasal Dysplasia 2	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla...	OMIM:613451
Opitz-Kaveggia Syndrome	Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi...	OMIM:305450
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ...	ORPHA:364577
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd...	ORPHA:457284
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Microcephaly, Hypoplasia of ...	ORPHA:464306
Orofaciodigital Syndrome V	Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd...	OMIM:174300
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t...	OMIM:227645
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Tricuspid regurgitation, Tethered cord, Postaxial polydactyly, Micr...	OMIM:618460
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t...	OMIM:609049
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip...	ORPHA:35173
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ...	OMIM:309800
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Syndactyly, Intraventricular hemorrhage, Cerebral atrophy	OMIM:616430
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Grange Syndrome	Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly	OMIM:602531
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th...	OMIM:300895
Holoprosencephaly 7	Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal...	OMIM:610828
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous...	OMIM:620029
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Rodrigues Blindness	Microphthalmia	OMIM:268320
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Basal ganglia calcification, Microcephaly	OMIM:610651
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of t...	ORPHA:1052
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S...	OMIM:300968
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Hallermann-Streiff Syndrome	Microcephaly, Congestive heart failure, Small hand, Short foot, Cerebellar hypoplasia, Clinodacty...	ORPHA:2108
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum...	OMIM:616734
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocephaly, Congenital ps...	ORPHA:2563
Hamamy Syndrome	Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers...	OMIM:611174
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of...	ORPHA:503
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Polymicrogyria, Umbilical hernia	OMIM:614520
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P...	OMIM:619297
X Small Rings	Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,...	ORPHA:96201
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic...	ORPHA:87
Fryns Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Agenesis of corpus callosum, Cerebral cortical at...	ORPHA:2059
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Hypertension	ORPHA:110
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anter...	OMIM:616975
Constricting Bands, Congenital	Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Cerebellar hypoplasia,...	OMIM:614083
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	ORPHA:2886
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Cockayne Syndrome B	Microcephaly, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Cerebral...	OMIM:133540
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra...	ORPHA:958
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Aplasia/Hypopla...	ORPHA:50
Pallister-Hall Syndrome	Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ...	ORPHA:672
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation...	OMIM:148050
Dubowitz Syndrome	Syndactyly, Single transverse palmar crease, Microcephaly, Hypoplasia of the iris, Clinodactyly o...	OMIM:223370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha...	OMIM:200990
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ...	OMIM:608670
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia, Microcephaly	OMIM:601675
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Microcephaly, Tapered finger, Small hand, Pulmonary arterial hypertension, H...	OMIM:620005
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinova...	OMIM:268400
Neurocardiofaciodigital Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal...	OMIM:619869
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Tricuspid regurgitation, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short ...	OMIM:616894
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Cubitus valgus	OMIM:104350
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po...	ORPHA:2751
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Monosomy 9P	Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda...	ORPHA:261112
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,...	OMIM:620025
Hartsfield Syndrome	Syndactyly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Ectrodactyly, Agenes...	OMIM:615465
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop...	ORPHA:887
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, M...	OMIM:107480
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda...	ORPHA:2750
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Cerebral a...	ORPHA:17
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Hy...	OMIM:229850
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Microcephaly, Postaxial hand polydact...	ORPHA:818
Witteveen-Kolk Syndrome	Proximal placement of thumb, Cortical dysplasia, Intracranial hemorrhage, Short palm, Clinodactyl...	OMIM:613406
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c...	ORPHA:508488
Phace Association	Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation	OMIM:606519
Osteoporosis-Pseudoglioma Syndrome	Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia	OMIM:259770
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia	OMIM:601552
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Basal ganglia calcification, Bilateral microp...	ORPHA:93325
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm...	OMIM:616580
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Choanal Atresia	Polydactyly	ORPHA:137914
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis...	OMIM:265000
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen...	OMIM:236100
Cat Eye Syndrome	Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis	OMIM:115470
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ...	OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o...	OMIM:253280
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Bloom Syndrome	Syndactyly, Microcephaly, Hand polydactyly, Clinodactyly of the 5th finger, Facial telangiectasia...	OMIM:210900
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:268300
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Broad palm	OMIM:618505
Okamoto Syndrome	Tethered cord, Microcephaly, Abnormally large globe, Hip dysplasia, Syringomyelia, Polydactyly, H...	ORPHA:2729
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H...	ORPHA:2658
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand...	OMIM:615948
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Microcephaly, Symphalangism affecting the phalanges o...	ORPHA:2990
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly	OMIM:612731
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S...	OMIM:612474
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra...	OMIM:263750
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t...	ORPHA:794
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Degcags Syndrome	Syndactyly, Tachycardia, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyly, Ge...	OMIM:619488
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Finger syndactyly, Bundle branch block, Congenital hip dislocation, Toe sy...	ORPHA:373
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d...	OMIM:176270
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage, Microcephaly	OMIM:308300
Carpenter Syndrome 2	Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre...	OMIM:614976
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Microcephaly, Hypop...	ORPHA:268261
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph...	ORPHA:33364
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal digit morpholog...	ORPHA:95494
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene...	ORPHA:42775
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Macrocephaly, Hypertension, Polydactyly, Meso...	OMIM:613610
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Tapered finger, Small hand, Heart murmur, Genu valgum, Mitral regurgita...	OMIM:615873
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Preaxial polydactyly	ORPHA:163681
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ...	OMIM:216340
Fontaine Progeroid Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Microcephaly, Hydrocephalus, P...	OMIM:612289
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Legius Syndrome	Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Macrocephaly...	ORPHA:137605
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th fing...	ORPHA:96182
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr...	ORPHA:353277
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Basal ganglia calcification, Subdural hemorrhage, Retinal hemorrha...	ORPHA:90324
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5...	ORPHA:96123
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin...	OMIM:175780
Papillorenal Syndrome	Microphthalmia, Hypertension	OMIM:120330
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli...	ORPHA:1708
Lymphedema-Distichiasis Syndrome	Microphthalmia, Arrhythmia	OMIM:153400
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta...	ORPHA:352665
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callos...	OMIM:312870
Renpenning Syndrome 1	Microcephaly, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Sy...	OMIM:309500
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C...	OMIM:227330
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma...	ORPHA:3253
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Holopro...	OMIM:618820
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand	ORPHA:1300
Cockayne Syndrome	Cerebral calcification, Cerebral dysmyelination, Basal ganglia calcification, Retinal hemorrhage,...	ORPHA:191
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Robinow Syndrome	Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna...	ORPHA:97360
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Cerebellar vermis hypoplasia, Postaxi...	ORPHA:480880
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Broad hallux, Single transverse palmar crease, Pulmonary arterial hypertension, M...	OMIM:620186
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Microcephaly, Preaxial hand polydactyly, ...	ORPHA:2753
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin...	OMIM:309000
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Hypoplastic pelvis	OMIM:273395
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat...	OMIM:261540
Rapp-Hodgkin Syndrome	Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma	OMIM:129400
Rabson-Mendenhall Syndrome	Cardiomyopathy, Polydactyly	ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c...	ORPHA:261537
Fraser Syndrome 3	Short toe, Hydrocephalus, Cutaneous syndactyly	OMIM:617667
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta...	OMIM:610168
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Microcephaly	OMIM:301022
Holoprosencephaly 2	Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,...	OMIM:157170
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormality of the upper limb, Sho...	ORPHA:1556
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ...	ORPHA:1896
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,...	OMIM:181270
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c...	ORPHA:261552
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P...	OMIM:619534
Coffin-Siris Syndrome 12	Microcephaly, Short thumb, Slender finger, Noncommunicating hydrocephalus, Heart murmur, Cutaneou...	OMIM:619325
Oculocerebrorenal Syndrome Of Lowe	Hip dislocation, Genu valgum, Buphthalmos, Umbilical hernia, Abnormal epiphysis morphology, Micro...	ORPHA:534
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1974
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm...	ORPHA:79500
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratos...	ORPHA:2907
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Sudden cardiac death, Metatarsus valgus, Pulmonar...	ORPHA:744
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c...	ORPHA:2152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature	ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar...	OMIM:150230
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrhythmia, Brach...	ORPHA:1519
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Microcephaly, Long fingers, Cut...	OMIM:620330
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Norrie Disease	Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Aplasia/Hypoplasia of the c...	ORPHA:649
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma	ORPHA:1071
Hennekam Syndrome	Finger syndactyly, Pachygyria, Camptodactyly of finger	ORPHA:2136
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short...	ORPHA:2908
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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 Cwc22

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Cwc22.

No publications found that use IMPC mice or data for Cwc22.

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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
Cwc22^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Cwc22^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cwc22 MGI:2136773

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

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X-ray

Human diseases caused by Cwc22 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data