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Gene: Dym MGI:1918480

Gene Summary

Name:

dymeclin

Synonyms:

1810041M12Rik, C030019K18Rik, 4933427L07Rik

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
decreased circulating triglyceride level	Dym^em1(IMPC)Tcp	HOM	Early adult	4.52×10^-10
decreased bone mineral content	Dym^em1(IMPC)Tcp	HOM	Early adult	2.58×10^-07
decreased body length	Dym^em1(IMPC)Tcp	HOM	Early adult	1.22×10^-21
increased startle reflex	Dym^em1(IMPC)Tcp	HOM	Early adult	3.06×10^-08
abnormal joint morphology	Dym^em1(IMPC)Tcp	HOM	Early adult	7.67×10^-05
increased circulating aspartate transaminase level	Dym^em1(IMPC)Tcp	HOM	Early adult	5.96×10^-14
abnormal bone structure	Dym^em1(IMPC)Tcp	HOM	Early adult	3.37×10^-12
decreased circulating cholesterol level	Dym^em1(IMPC)Tcp	HOM	Early adult	9.46×10^-11
short tibia	Dym^em1(IMPC)Tcp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Dym^em1(IMPC)Tcp	HOM	Early adult	3.05×10^-19
enlarged urinary bladder	Dym^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Dym^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Dym^em1(IMPC)Tcp	HOM	Early adult	1.85×10^-07
decreased prepulse inhibition	Dym^em1(IMPC)Tcp	HOM	Early adult	1.67×10^-05
increased mean corpuscular volume	Dym^em1(IMPC)Tcp	HOM	Early adult	4.63×10^-06
increased grip strength	Dym^em1(IMPC)Tcp	HOM	Early adult	9.38×10^-05
increased circulating alanine transaminase level	Dym^em1(IMPC)Tcp	HOM	Early adult	1.89×10^-26

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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.

Eye Morphology

Images Ophthalmoscopy

104 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 Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Histopathology

Images

7 Images

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Eye Morphology

Images Slit Lamp

15 Images

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Human diseases caused by Dym 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 Dym (3 diseases)
Human diseases predicted to be associated with Dym (1057 diseases)

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

Disease	Matching phenotypes	Source
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239

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

Disease	Matching phenotypes	Source
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat...	OMIM:613330
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal c...	OMIM:118651
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie...	OMIM:224300
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Dental malocclusion, ...	ORPHA:3079
Opsismodysplasia	Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Tapered finger, Pectus excavatum, S...	ORPHA:2746
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Fibrochondrogenesis 2	Frontal bossing, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wi...	OMIM:614524
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short neck, High palate, Biparietal narrowing, Short philtrum, Short palm, C...	ORPHA:85293
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon...	OMIM:184255
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Long...	OMIM:258480
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormal...	ORPHA:2916
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypoplas...	ORPHA:1782
Three M Syndrome 1	Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp...	OMIM:273750
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Microcephaly, Coxa ...	OMIM:616716
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Tetraploidy	Microcephaly, Micrognathia, Radial club hand, Renal hypoplasia/aplasia, Cleft palate, Short philt...	ORPHA:3305
Seckel Syndrome 4	11 pairs of ribs, Microcephaly, Steep acetabular roof, Decreased body weight, Severe failure to t...	OMIM:613676
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Missing ribs, Cryptorc...	ORPHA:3027
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Narrow mouth, Narrow pal...	ORPHA:1323
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m...	OMIM:608940
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Tetraphocomelia, Hypoplastic ve...	OMIM:215140
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen...	ORPHA:2831
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Cryptorchidism, Fibular hypoplas...	OMIM:612447
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Midface retrusion, Small abnormally ...	OMIM:187600
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Toluene Embryopathy	Tapered finger, Micrognathia, Cryptorchidism, Microcephaly, Abnormal localization of kidney, Thin...	ORPHA:1920
Three M Syndrome 2	Short neck, Pectus carinatum, High palate, Long philtrum, Scapular winging, Lumbar hyperlordosis,...	OMIM:612921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Short neck, Beaded ribs, Brachycephaly, Micropenis, Hypospadias, Decreased fibular ...	OMIM:616897
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, H...	ORPHA:56304
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Elbow dislocation,...	OMIM:171480
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Microcephaly, Postaxial hand polydactyly, Split h...	ORPHA:2491
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ...	OMIM:164745
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met...	OMIM:618961
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi...	OMIM:612350
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia...	OMIM:187601
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Muenke Syndrome	Midface retrusion, Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone...	OMIM:602849
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer fl...	OMIM:610539
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Talipes, Micromelia, Short neck, Abnormal thu...	ORPHA:1842
Pallister-Hall-Like Syndrome	Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Microcephaly, Postaxial hand polydact...	OMIM:241800
Autosomal Dominant Omodysplasia	Short humerus, Hypoplasia of penis, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation,...	ORPHA:93328
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Achondroplasia	Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident hand, Genu varum, Radia...	OMIM:100800
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Lateral c...	ORPHA:1801
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Microcephaly, Kyphosis, Abnor...	ORPHA:1005
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Pectus carinatum, Do...	ORPHA:1327
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Micrognathi...	OMIM:617866
Isotretinoin Syndrome	Sacral dimple, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta	ORPHA:2305
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Microcephaly, Submucous cleft hard palate, Epiphyseal st...	OMIM:222765
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Microcephaly, Decreased body weight, Broad phalanx, Short pha...	OMIM:618724
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Narrow chest, Thoracic ...	OMIM:614091
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide d...	OMIM:613320
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypopl...	OMIM:617895
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Microcephaly, Brachycephaly, Hypoplastic vertebral bodies, Plagioce...	ORPHA:2163
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Glossoptosis, Increased head circumf...	ORPHA:94068
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Small for gestational age, Hypospadias, Rhi...	OMIM:607143
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ...	OMIM:155050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Chronic kidney disease, Obesity, Cone-shaped e...	OMIM:615630
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog...	ORPHA:3266
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Microcephaly, Carious teeth, Talon cusp, Dental malocclus...	OMIM:613684
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis, Abnormality of th...	OMIM:241500
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis	OMIM:618155
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Gm1 Gangliosidosis Type 1	Frontal bossing, Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bod...	ORPHA:79255
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormality of the philtrum, Renal hypoplasia/aplasia...	ORPHA:1770
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, S...	OMIM:210600
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Hydroureter, Ureteral stenosis, Large for gestational age, Abnormality of...	OMIM:615398
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Gurrieri Syndrome	Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast...	OMIM:601187
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep...	ORPHA:397715
Osteogenesis Imperfecta, Type X	Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Broad ribs, Rhizomelia...	OMIM:613848
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Open bite...	ORPHA:61
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm...	ORPHA:440354
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Bent Bone Dysplasia Syndrome 2	Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femo...	OMIM:620076
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Knee flexion contracture, Abnormal calc...	OMIM:271665
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, Hi...	ORPHA:99776
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Relative macrocephaly, Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, ...	OMIM:618292
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Abnormality of the kidn...	ORPHA:1860
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r...	OMIM:173800
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S...	OMIM:616300
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Pes planus, Hypospadias, Proximal placement of thumb, Micrognathia, Tapered...	ORPHA:251071
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Ring Chromosome 8 Syndrome	Frontal bossing, Abnormality of the ureter, Deviation of finger, Hydronephrosis, Abnormal palate ...	ORPHA:1450
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Short neck, Metatarsus adductus, Abnormality of the dentition, Vertebral wedging,...	ORPHA:3101
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Dolichocephaly, Metaphy...	OMIM:609052
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Orofaciodigital Syndrome Type 6	Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobulated tong...	ORPHA:2754
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L...	OMIM:615314
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, High, narrow palate...	OMIM:119600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Pectus carinatum, High palate, Hypoplastic iliac wing, Abno...	ORPHA:93315
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Barre...	OMIM:200610
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Relative macroc...	OMIM:239000
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Autosomal Dominant Spondylocostal Dysostosis	Microcephaly, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, ...	ORPHA:1797
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Frontal bossing, Thickened ribs, Short...	OMIM:252940
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc...	ORPHA:750
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Long philtrum, ...	OMIM:616331
Gm1-Gangliosidosis, Type Ii	Coxa valga, Thoracolumbar kyphosis, Protruding tongue, Gingival overgrowth, Hypoplastic vertebral...	OMIM:230600
Pelviscapular Dysplasia	Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypop...	ORPHA:93333
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion, Kyphoscoliosis, Microcephaly	OMIM:615541
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Microcephaly, Cryptorchidism, Kyphosis...	ORPHA:2115
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos...	OMIM:224690
1Q44 Microdeletion Syndrome	Frontal bossing, Exaggerated cupid's bow, Microcephaly, Micrognathia, Horseshoe kidney, Thin verm...	ORPHA:238769
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Midface retrusion, Short neck, Kyphosis, Cone-shaped epiphys...	ORPHA:420794
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis, Microcephaly	DECIPHER:70
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Prominent pa...	OMIM:272950
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
Ellis-Van Creveld Syndrome	Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Hypospadias, Abnormality of t...	OMIM:225500
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Spondyloepimetaphyseal Dysplasia, Shohat Type	Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati...	ORPHA:93352
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Microcephaly, Brachycephaly, Symphalangism affecting the phalanges of the hand, ...	ORPHA:1292
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cryptorchidism,...	ORPHA:1865
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab...	ORPHA:2021
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Equinovarus deformity, Micromelia, Micrognathia, Shor...	OMIM:224400
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Micrognathia, Craniosynostosis, Cleft palate, Thin ribs, Plagiocephaly, Slender l...	OMIM:618265
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali...	ORPHA:2501
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Horseshoe kidney, Narrow chest, Calcification...	ORPHA:2867
Rudiger Syndrome	Frontal bossing, Single transverse palmar crease, Ureterovesical stenosis, Micropenis, High axial...	OMIM:268650
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Biparietal narrowing, Long ...	ORPHA:228396
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp...	ORPHA:2484
Larsen-Like Syndrome	Frontal bossing, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Clef...	OMIM:608545
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Microcephaly, Short neck, Abnormality of the dentit...	ORPHA:251038
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Ectopic kidney, Renal cyst, Glossoptosis, High palate, ...	OMIM:117650
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Kyphosis, High pa...	OMIM:618393
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v...	ORPHA:3320
Diaphanospondylodysostosis	Short neck, Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, Multip...	ORPHA:66637
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Non-Distal Deletion 10Q	Brachydactyly, Biparietal narrowing, Clinodactyly of the 5th finger, Overlapping fingers, Bilater...	ORPHA:1581
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Frontal bossing, Microcephaly, Hypoplasia of the odontoid proce...	ORPHA:85172
16Q24.3 Microdeletion Syndrome	Frontal bossing, Proximal placement of thumb, Micrognathia, Cryptorchidism, Kyphosis, Wide mouth,...	ORPHA:261250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate...	OMIM:618363
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ca...	OMIM:277590
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Hyperphosphaturia, Bowing of the long bones, Micrognathia, Metaphyseal chondrody...	OMIM:156400
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Narrow c...	OMIM:600972
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Macroce...	OMIM:300863
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Anauxetic Dysplasia 2	Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho...	OMIM:617396
Lig4 Syndrome	Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Brachycephaly, Thin vermilion bo...	ORPHA:99812
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Occipital Horn Syndrome	Pectus carinatum, High palate, Narrow chest, Broad ribs, Pelvic bone exostoses, Short clavicles, ...	OMIM:304150
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif...	OMIM:607323
Potocki-Lupski Syndrome	Mandibular prognathia, Small for gestational age, Dental crowding, Microcephaly, Micrognathia, Ab...	OMIM:610883
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Bilateral cryptorchidism, Downturned corn...	ORPHA:1600
Hypochondroplasia	Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hy...	OMIM:146000
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci...	OMIM:268310
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f...	OMIM:601957
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgu...	ORPHA:818
Craniosynostosis 1	Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Flat occiput, Dental crowding, Micrognathia, Short neck, Tibial bowing, High palate, Short philtr...	ORPHA:251028
Prieto Syndrome	11 pairs of ribs, Coxa valga, Abnormality of the dentition, Cryptorchidism, Patellar subluxation,...	OMIM:309610
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Pectus excava...	ORPHA:2471
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Atelosteogenesis Type Iii	Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Lathosterolosis	Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Talipes, Micrognathia, M...	ORPHA:46059
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Tubulointerstitial nephritis, High palate, ...	OMIM:218330
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Hypospadias, Selective tooth agenesis, Micrognathia, Microcephaly, ...	OMIM:613823
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Mulibrey Nanism	Frontal bossing, Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Enamel...	OMIM:253250
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short neck, Short metatarsal, Renal cyst, Widely spaced teeth...	OMIM:266920
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Cardiofaciocutaneous Syndrome	Frontal bossing, Failure to thrive in infancy, Abnormal morphology of ulna, Short neck, Pectus ex...	ORPHA:1340
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Large for gestational age, Short neck, Thick lower li...	ORPHA:2563
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Par...	OMIM:109400
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, M...	OMIM:134780
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Slc35A2-Cdg	Failure to thrive in infancy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metat...	ORPHA:356961
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Mic...	OMIM:251230
Pyle Disease	Thickened calvaria, Metaphyseal dysplasia, Mandibular prognathia, Delayed eruption of teeth, Pers...	OMIM:265900
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Pectus carinatum, Cone-shaped epiphyses of the pro...	OMIM:190350
Joubert Syndrome With Renal Defect	Renal insufficiency, Orofacial cleft, Cleft palate, Hand polydactyly, Biparietal narrowing, Scoli...	ORPHA:220497
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Micropenis...	OMIM:613803
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, Vert...	OMIM:611209
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primar...	OMIM:257850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Brachycephaly, Pectus carinatum, Thoracic dysplasia, Narrow chest, Micrope...	OMIM:263520
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Hand polydactyly, Foot polydactyly, Biparietal narrowing, Scoliosis, Nephrop...	ORPHA:2318
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C...	OMIM:619797
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micrognathia, Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, ...	OMIM:620073
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Hand ...	OMIM:314390
Macrocephaly, Benign Familial	Frontal bossing, Dolichocephaly, Macrocephaly, Biparietal narrowing, Long philtrum	OMIM:153470
Legg-Calvé-Perthes Disease	Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Blepharophimosis-Impaired Intellectual Development Syndrome	Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdontia, Hypospadias, Ex...	OMIM:619293
Fetal Alcohol Syndrome	Thin upper lip vermilion, Microcephaly, Micrognathia, Non-midline cleft lip, Cleft palate, Verteb...	ORPHA:1915
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, H...	OMIM:269860
15Q14 Microdeletion Syndrome	Microcephaly, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Biparietal na...	ORPHA:261190
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Brachycephaly...	ORPHA:1299
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Glossoptosis, Biparietal narrowing, Clinodactyly of the...	ORPHA:2031
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Image Syndrome	Metaphyseal dysplasia, Frontal bossing, Hypospadias, Micromelia, Cryptorchidism, Hydronephrosis	ORPHA:85173
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Microcephaly, Abnormality of the denti...	OMIM:258865
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue...	OMIM:258860
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Hypoplasia of the ma...	OMIM:201000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Sandal gap, Dental crowding, Pectus excavatum, Short ...	OMIM:617877
Joubert Syndrome	Abnormal form of the vertebral bodies, Orofacial cleft, Hand polydactyly, Foot polydactyly, Scoli...	ORPHA:475
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Short neck, Thick lower lip vermilion, Dental maloccl...	OMIM:157980
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contr...	OMIM:619719
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Meso...	OMIM:605274
Gm1-Gangliosidosis, Type I	Frontal bossing, Thickened ribs, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral...	OMIM:230500
Cdags Syndrome	Frontal bossing, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Parieta...	OMIM:603116
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Primary Pulmonary Hypoplasia	Ureteral stenosis, Microcephaly, Micrognathia, Patellar hypoplasia, Cleft palate, Failure to thrive	ORPHA:2257
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner...	OMIM:123450
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Knee flexion contractu...	OMIM:601559
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna...	ORPHA:959
Ivic Syndrome	Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e...	OMIM:147750
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinodactyly of the 5t...	OMIM:140000
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B...	OMIM:615222
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Long phi...	ORPHA:97360
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu...	ORPHA:85285
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Frontal bossing, Rhizomelia, Talipes, Unilateral renal agenesis, Microcephaly, ...	OMIM:617661
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Peho Syndrome	Microcephaly, Tapered finger, Gingival overgrowth, Pedal edema, Abnormal upper lip morphology, Bi...	ORPHA:2836
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Short neck, Lateral clavicle hook, Preaxial polydactyly, Brachycephaly, Long thorax...	OMIM:617925
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Midface retrusion, Micrognathia, Abnormality of the dentition, Cryptorc...	OMIM:179613
Joubert Syndrome With Ocular Defect	Orofacial cleft, Cleft palate, Hand polydactyly, Foot polydactyly, Scoliosis, Biparietal narrowin...	ORPHA:220493
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim...	ORPHA:2438
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
C Syndrome	Micromelia, Micrognathia, Short neck, High palate, Biparietal narrowing, Clinodactyly of the 5th ...	ORPHA:1308
Cerebellofaciodental Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Microcephaly, Cryptorchidism, Short ...	OMIM:616202
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion con...	ORPHA:800
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis...	OMIM:184260
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Single transverse palmar crease, Tapered finger, Micrognathia, Cryptorchi...	ORPHA:444072
Macdermot-Winter Syndrome	Camptodactyly of finger, Hydronephrosis, Microcephaly	OMIM:247990
Pseudodiastrophic Dysplasia	Smooth philtrum, Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micro...	OMIM:264180
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, High ...	ORPHA:2322
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal wide...	OMIM:182212
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente...	OMIM:177170
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat...	ORPHA:50945
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Short p...	OMIM:616894
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal...	ORPHA:3003
Hyperparathyroidism, Transient Neonatal	Frontal bossing, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Brachycephaly, Undula...	OMIM:618188
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Sco...	OMIM:601357
Lower Limb Malformation-Hypospadias Syndrome	Sacral dimple, Hypospadias, Lower limb asymmetry, Short neck, Abnormal tibia morphology, Abnormal...	ORPHA:2487
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ...	ORPHA:3404
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Macrocephaly/Autism Syndrome	Frontal bossing, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, High pal...	OMIM:605309
Atelosteogenesis, Type Iii	Cervical kyphosis, Micrognathia, Short neck, Hypoplasia of the maxilla, Tibial bowing, Knee dislo...	OMIM:108721
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Large for ges...	ORPHA:96334
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the...	OMIM:200980
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Frontal bossing, Sacral dimple, Toe syndactyly, Camptodactyly of finger, U...	ORPHA:261337
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Sclerotic scapulae, Broad clavicles, 2-3 fing...	OMIM:269500
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Hypospadias, Bowed humerus, Short lingual frenulu...	OMIM:619479
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger...	OMIM:619218
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe...	OMIM:101200
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:615546
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m...	ORPHA:99642
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Microcephaly, Micrognathia...	ORPHA:2522
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Frontal bossing, Tented upper lip vermilion, Rocker bottom foot...	OMIM:619762
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,...	OMIM:618975
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Hemolytic-uremic syndrome, Osteop...	ORPHA:2169
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal clavicle morphology, Hydroureter, Hypospad...	ORPHA:568
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:602483
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Mucopolysacchariduria, Broad hallux, Broad thumb	OMIM:272200
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Abnormal dental...	ORPHA:2092
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corners of mouth, ...	ORPHA:955
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Postaxial hand polydactyly, Orofacial cleft, B...	ORPHA:1454
Epiphyseal Dysplasia, Multiple, 1	Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Avascular necrosis of...	OMIM:132400
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty...	ORPHA:2920
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Short neck, Abnorm...	ORPHA:1834
Braddock Syndrome	Unilateral renal agenesis, Missing ribs, Micrognathia, Preaxial hand polydactyly, Short neck, Pec...	ORPHA:52047
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil...	OMIM:616737
Mucolipidosis Type Iv	Genu recurvatum, Microcephaly, Palmoplantar keratoderma, Everted lower lip vermilion, Biparietal ...	ORPHA:578
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturn...	OMIM:618371
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Microcephaly, Cryptorchidism, Brachycephaly, Genu valgum, Wide mouth, Posterior plag...	OMIM:617798
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Hypospadias, Dental crowding, Microcephaly, Pierre-Robin sequence, Cleft palate...	OMIM:619184
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Microg...	ORPHA:3409
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology...	ORPHA:166011
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short neck, Diastema, Micrognathia, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Wiedemann-Rautenstrauch Syndrome	Thickened calvaria, Wide penis, Hypoplastic vertebral bodies, Downturned corners of mouth, Short ...	ORPHA:3455
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Micromelia, Micrognathia, Elbow d...	ORPHA:93329
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal stern...	ORPHA:2519
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o...	OMIM:613628
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, High palate, Spina bifi...	OMIM:218600
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Abnormality of th...	ORPHA:210110
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell...	OMIM:617604
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage...	OMIM:156550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-...	OMIM:226980
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p...	OMIM:616145
Noonan Syndrome 4	Ureteral duplication, Pectus excavatum of inferior sternum, Large for gestational age, Short neck...	OMIM:610733
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Microcephaly, Dental malocclusion, Narrow palate, Clino...	OMIM:617883
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Missing ribs, Micrognathia, Hemivertebrae, Brachycephaly, Cleft palate, ...	OMIM:220210
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Frontal bossing, Hypospadias, Micrognathia, Missing ribs,...	ORPHA:7
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Failure to thrive in ...	ORPHA:1225
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange...	OMIM:105650
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
Trisomy 20P	Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Downturned corner...	ORPHA:261318
Trisomy 13	Median cleft lip, Abnormality of the dentition, Cryptorchidism, Postaxial hand polydactyly, Kypho...	ORPHA:3378
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Zaki Syndrome	Sacral dimple, Toe syndactyly, Renal agenesis, Micrognathia, Microcephaly, Long fingers, Wide mou...	OMIM:619648
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Short neck, Talipes calcaneovalgus, Knee flexion contracture, Downturned corners of...	OMIM:265000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Biparietal narrowing	ORPHA:935
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Myopathy, Myofibrillar, 8	Pes planus, Scapular winging, Micrognathia, Spinal rigidity, Pectus excavatum, Achilles tendon co...	OMIM:617258
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca...	ORPHA:958
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Brachycep...	OMIM:274000
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, Crypt...	OMIM:618950
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi...	OMIM:300232
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Omodysplasia 1	Short humerus, Frontal bossing, Rhizomelia, Increased fibular diameter, Malar flattening, Microgn...	OMIM:258315
Czeizel-Losonci Syndrome	Hitchhiker thumb, Thoracolumbar scoliosis, Single transverse palmar crease, Micrognathia, 2-3 fin...	ORPHA:2437
Cranioectodermal Dysplasia 2	Micrognathia, Short neck, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Narrow chest...	OMIM:613610
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia...	ORPHA:195
Cooper-Jabs Syndrome	Frontal bossing, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib...	ORPHA:1488
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Microcephal...	ORPHA:1046
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Progeria-Short Stature-Pigmented Nevi Syndrome	Brachydactyly, Thoracic scoliosis, Small for gestational age, Hypospadias, Selective tooth agenes...	ORPHA:2959
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Dolichocephaly, Hip dislocation, ...	OMIM:618395
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu...	ORPHA:1507
Kabuki Syndrome 2	Natal tooth, Micrognathia, Microcephaly, Lower lip pit, Hip dislocation, Dental malocclusion, Hor...	OMIM:300867
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Persistence of hemoglobin F, Increase...	OMIM:300946
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ...	OMIM:227270
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Cryptorchidism, Dental malocclusion, Slender toe, Macrocephaly, High palate, Doli...	OMIM:310400
Hallermann-Streiff Syndrome	Frontal bossing, Natal tooth, Micrognathia, Microcephaly, Cryptorchidism, High, narrow palate, Su...	ORPHA:2108
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Deep p...	OMIM:227330
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Bilateral cryptorchidism, Micrognathia...	OMIM:618156
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Frontal bossing, Abnormally ossified vertebrae, Kyphoscoliosis, L...	ORPHA:35173
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Lessel-Kreienkamp Syndrome	Frontal bossing, Thin upper lip vermilion, Scaphocephaly, Dental malocclusion, Plagiocephaly, Cli...	OMIM:619149
Shprintzen-Goldberg Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi...	ORPHA:2462
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Renal cyst, High palate, Premature loss of teet...	OMIM:102500
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Abnormality...	ORPHA:85321
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Proteinuria, Bowing of the legs, Hypoplastic il...	ORPHA:1855
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Genu varum, Patellar hypoplasia, Short femoral neck, ...	OMIM:609325
Ollier Disease	Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspondyly, Abnormal met...	ORPHA:296
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Renal hypoplasia...	OMIM:615996
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Biparietal narrowing, Scoliosis, Microcephaly	ORPHA:2518
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Trisomy 17P	Hypoplasia of penis, Micrognathia, Short neck, Orofacial cleft, High palate, Clinodactyly of the ...	ORPHA:261290
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Mucopolysaccharidosis Type 4	Short neck, Pectus carinatum, Abnormal dental enamel morphology, Hyperlordosis, Short thorax, Abn...	ORPHA:582
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Abnormality of the philtrum, Missing ribs, Aplasia/Hypoplasia of the t...	ORPHA:2759
Frank-Ter Haar Syndrome	Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, High palate,...	OMIM:249420
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, E...	ORPHA:2769
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Arachnodactyly, Microcephaly, Abnormal thumb morphology, Cryptorchidism, Narro...	ORPHA:2719
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodon...	OMIM:305600
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Frontal bossing, Small for gestational age, Microg...	OMIM:269880
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Microcephaly, Micrognathia, Cariou...	OMIM:613680
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Vesicoureteral reflux, Micropenis, Hypospadias, Cryptorchidism, Postaxial foot polydactyly, Deep ...	OMIM:301056
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:93929
Faciocardiomelic Syndrome	Micrognathia, Large for gestational age, Microcephaly, Cuboid-shaped vertebral bodies, Dental mal...	OMIM:612731
Koolen-De Vries Syndrome	Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Vesicoureteral reflux, ...	ORPHA:96169
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Fo...	ORPHA:314795
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Microcephaly, Micrognathia, Cleft pala...	OMIM:618356
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Microgn...	ORPHA:2083
Mosaic Trisomy 8	Decreased testicular size, Frontal bossing, Camptodactyly of finger, Micrognathia, Short neck, Cr...	ORPHA:96061
Hamamy Syndrome	Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, T...	OMIM:611174
Acrofacial Dysostosis, Catania Type	Hypospadias, Single transverse palmar crease, Microcephaly, Carious teeth, Cryptorchidism, Short ...	OMIM:101805
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Fetal pyelectasis, Brachycephaly...	OMIM:619512
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Micrognathia, Short neck, Supernumerary tooth, Gingival fibromatosis, ...	ORPHA:3473
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Fetal pyele...	ORPHA:50810
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Unilateral renal agenesis, Micrognathia, Diastema, Cryptorchidism, Bra...	OMIM:609757
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pectus carinatu...	OMIM:115150
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius,...	OMIM:613390
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corners of mout...	ORPHA:531151
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
6P22 Microdeletion Syndrome	Finger syndactyly, Short neck, Clinodactyly, Hydronephrosis, Abnormal palate morphology	ORPHA:251046
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Narrow chest, Parietal boss...	OMIM:264090
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
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
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi...	ORPHA:93271
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,...	ORPHA:457395
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax m...	OMIM:302960
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Abnormal mitochondrial shape, Microcephaly, Methylmaloni...	ORPHA:17
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, High palate, Bilateral sing...	ORPHA:261112
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Dolichocephaly, Hemivertebrae, Rib f...	OMIM:271520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Gingival ...	ORPHA:508542
Trisomy 1Q	Microretrognathia, Frontal bossing, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly,...	ORPHA:261344
Phelan-Mcdermid Syndrome	Sacral dimple, Abnormality of the kidney, Micrognathia, Microcephaly, Dolichocephaly, Dental malo...	OMIM:606232
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A...	ORPHA:2461
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate, Micrognathia,...	OMIM:606851
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Urethral valve, Small for gestational age, Hypospadias, Micrognathia...	OMIM:180860
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor...	ORPHA:508488
Congenital Myopathy 19	Micrognathia, Cryptorchidism, Renal atrophy, Bell-shaped thorax, High palate, Scoliosis, Hydronep...	OMIM:618578
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Micrognathia, Abnormality of the dentition, Long fingers, Cryptorchidi...	OMIM:617557
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Scoliosi...	ORPHA:329178
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Pes planus, Genu recurvatum, Malar flattening, Cryptorchidism, Kyphosis, B...	ORPHA:364028
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, M...	OMIM:210720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Dentinogenesis imperfecta, Obesity, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:619269
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Frontal bossing, Toe syndactyly, Microcephaly, Cryptorchidism, Short foot, ...	ORPHA:250989
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Short neck, Brachycephaly, High palate, Microdon...	OMIM:259775
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
8P23.1 Duplication Syndrome	Toe syndactyly, Thick vermilion border, Hydronephrosis, Long philtrum	ORPHA:251076
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Thoracic kyphosis, Short pal...	ORPHA:508498
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Pectus excavatum, De...	ORPHA:247262
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Ta...	OMIM:300990
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow greate...	OMIM:312870
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint...	OMIM:164900
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Hydroureter, Hydronephrosis, Macrocephaly	OMIM:618240
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Short neck, Brachycephaly, Pectus carinatum, Knee dislocation, Shoulder dislocation...	OMIM:245600
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Chromosome 2P16.1-P15 Deletion Syndrome	Decreased testicular size, Thin upper lip vermilion, Arachnodactyly, Kyphoscoliosis, Microcephaly...	OMIM:612513
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Cleft palate, Postaxial polydactyly	OMIM:612913
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,...	OMIM:269300
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplast...	ORPHA:85201
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Short...	OMIM:618845
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Aplasia of the pectoralis major mus...	ORPHA:1358
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor...	OMIM:185000
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Horseshoe kidney, Increased mean corpus...	OMIM:612562
Joubert Syndrome 37	Decreased testicular size, Frontal bossing, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorc...	OMIM:619185
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:612561
Beta-Mercaptolactate Cysteine Disulfiduria	Frontal bossing, Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu...	ORPHA:1035
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplasti...	OMIM:235510
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypoch...	OMIM:266510
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnormal finger mo...	ORPHA:2636
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Enlarged thorax, High palate, Bilateral single transverse palmar creases, Multicys...	ORPHA:261349
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Micrognathia, Metatarsus adductus, Short neck, Ca...	OMIM:616266
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Micrognat...	ORPHA:314588
15q26 overgrowth syndrome	Mandibular prognathia, Micrognathia, Short neck, Abnormal finger morphology, High palate, Vesicou...	DECIPHER:81
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Abnormal odontoid process morphology, Block vertebrae, Shor...	OMIM:613686
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Downturned corners of mouth, Abnormal st...	ORPHA:487796
Koolen-De Vries Syndrome	Positional foot deformity, High palate, Widely spaced teeth, Prominent fingertip pads, Vesicouret...	OMIM:610443
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Microcephaly, Ep...	OMIM:615948
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Wid...	OMIM:618853
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia, Ab...	ORPHA:1133
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop...	OMIM:613839
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Short neck, Accessory oral frenulum, Hamart...	OMIM:616546
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Short metacarpal...	OMIM:616723
Beta-Thalassemia Intermedia	Osteopenia, Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Hepatome...	ORPHA:231222
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th...	OMIM:192350
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete...	ORPHA:2970
Penoscrotal Transposition	Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,...	ORPHA:2842
White-Sutton Syndrome	Duplicated collecting system, Mandibular prognathia, Micrognathia, Microcephaly, Short neck, Obes...	OMIM:616364
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ...	ORPHA:819
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Frontal bossing, Ureteral hypoplasia, Bladder trabeculatio...	OMIM:614080
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Micrognathia, Short neck, High, narrow palate, B...	ORPHA:96149
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Renal hypoplasia/aplas...	ORPHA:3186
Diabetic Embryopathy	Ureteral duplication, Frontal bossing, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Mi...	ORPHA:1926
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, Cryptorchidism, High, narro...	OMIM:618494
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
3Mc Syndrome 1	Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Microcephaly, Clef...	OMIM:257920
Linear Nevus Sebaceus Syndrome	Frontal bossing, Genu recurvatum, Prominent occiput, Plagiocephaly, Vertebral segmentation defect...	ORPHA:2612
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear...	OMIM:600383
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Pectus ...	OMIM:311900
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph...	ORPHA:1427
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Zellweger Syndrome	Multicystic kidney dysplasia, Flat occiput, Hypospadias, Micrognathia, Microcephaly, Wide anterio...	ORPHA:912
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M...	OMIM:180849
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ...	OMIM:610682
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ...	OMIM:268300
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Brachycephaly, Cutane...	OMIM:211380
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Hypospadias, Micrognathia, Phimosis, Short neck, D...	ORPHA:75857
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spa...	OMIM:280000
Dysostosis, Stanescu Type	Micromelia, Short neck, Hypoplasia of the maxilla, Brachycephaly, Abnormal dental enamel morpholo...	ORPHA:1798
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Single transverse palmar crease, Microcephaly, Kyphosis,...	OMIM:616449
Noonan Syndrome 12	11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Proximal placement of thumb	OMIM:618624
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Failure to thrive, Sacral dimple, Rhizomelia, Thin upper lip verm...	ORPHA:319182
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowi...	OMIM:259420
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Microphthalmia, Syndromic 3	Vertebral fusion, Frontal bossing, Hypospadias, Missing ribs, Microcephaly, Cryptorchidism, Hemiv...	OMIM:206900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Frontal boss...	OMIM:241530
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Craniofacioskeletal Syndrome	Barrel-shaped chest, Pes planus, Thin upper lip vermilion, Hypospadias, Micrognathia, Microcephal...	OMIM:300712
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, ...	OMIM:214100
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Hematuria, Biparietal narr...	ORPHA:728
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Limited elbow movement, Micrognathia, Dental malocclusion, Th...	OMIM:614008
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Parietal foramina, Cryptorchidism, Preaxial polydactyly, Preaxial fo...	OMIM:603671
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat oc...	OMIM:264700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Absent ossificatio...	OMIM:166210
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Craniosynostosis, Microcephaly, Cryptorchidism, Clef...	ORPHA:457193
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Xylt1-Cdg	Relative macrocephaly, Pes planus, Coxa valga, Microcephaly, Flared metaphysis, Cleft palate, Tru...	ORPHA:370930
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Short metacarpal, Brachydactyly, Small for gestational age, Rhizomelia, Hy...	OMIM:614813
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Vesicoureteral r...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Vesicoureteral r...	ORPHA:352665
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Micrognathia, Cryptorc...	ORPHA:3301
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Scoliosis, M...	OMIM:620141
Alagille Syndrome	Hypoplasia of the ulna, Frontal bossing, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, ...	ORPHA:52
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Multiple rib fractures, Rhizomeli...	OMIM:616229
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Microcephaly, Short neck, Hip...	OMIM:618947
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Bowing of the legs, ...	OMIM:600081
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Pectus excavatum, Cryptorchidism, Pectus carinatum, Cong...	OMIM:100100
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Sacral dimple, Postaxial polydactyly, Lower limb asymmetry, Tapered finger, Abno...	OMIM:300968
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio...	OMIM:620306
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Distal Duplication 6P	Frontal bossing, Sacral dimple, Short neck, Micrognathia, Renal hypoplasia, Abnormality of the ur...	ORPHA:1745
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Micrognathia, Sh...	ORPHA:391641
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Micrognathia, Short neck, Long fingers, Cryptorchidism, High, narrow p...	ORPHA:96092
Phosphoribosylaminoimidazole Carboxylase Deficiency	Missing ribs, Bilateral cryptorchidism, Coronal hypospadias, Short neck, Brachycephaly, Lumbar he...	OMIM:619859
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Horseshoe kidney, High palate, Camptodactyly, ...	OMIM:614846
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating cre...	ORPHA:96180
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality o...	ORPHA:353281
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, M...	ORPHA:2750
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact...	OMIM:270400
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Brachycephaly, Nephrocalcinosi...	ORPHA:79500
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Chime Syndrome	Abnormal dental morphology, Abnormality of the kidney, Aplastic clavicle, Abnormality of the dent...	ORPHA:3474
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda...	ORPHA:235
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Dentinogenesis...	OMIM:614856
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat oc...	OMIM:277440
22Q11.2 Duplication Syndrome	Microcephaly, Micrognathia, Urethral stenosis, Cleft palate, Scoliosis, Midface retrusion, Displa...	ORPHA:1727
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Microcephaly, Short femur, Tapered finger	OMIM:618367
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Decreased palmar creases, Functional abnormality of the bladder, Abnormal ster...	ORPHA:2953
Alg12-Cdg	Hyponatremia, Hypospadias, Sandal gap, Proximal placement of thumb, Micrognathia, Ulnar deviation...	ORPHA:79324
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul...	ORPHA:2741
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Widely spaced teeth, ...	OMIM:253220
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Downturned corn...	OMIM:619297
Occipital Horn Syndrome	High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large ...	ORPHA:198
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Single transverse palmar crease, Downturned corners of ...	OMIM:619522
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Cryptorchidism, S...	ORPHA:2886
Intellectual Developmental Disorder, Autosomal Dominant 42	Pes planus, Neurogenic bladder, Tapered finger, Pectus excavatum, Narrow palm, Cleft palate, Post...	OMIM:616973
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Sho...	ORPHA:373
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micrognathia, Hydrocele testis, Hypocholesterolemia, Micropenis	OMIM:618810
Cockayne Syndrome B	Mandibular prognathia, Renal insufficiency, Small for gestational age, Proteinuria, Delayed erupt...	OMIM:133540
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus...	ORPHA:231226
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreas...	ORPHA:231214
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Frontal bossing, Tented upper lip vermilion, Postaxial polyd...	OMIM:618460
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Olig...	ORPHA:2044
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Long philtrum, Broad hallux phala...	ORPHA:2308
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu...	OMIM:276820
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Renal insufficiency, Proteinuria, Delayed eruption of pri...	OMIM:216400
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
46,Xy Sex Reversal 4	Micrognathia, Cleft palate, Hydronephrosis, High palate, Long philtrum, Trigonocephaly, Ureterope...	OMIM:154230
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Brachycephaly, Renal cyst...	ORPHA:261494
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Frontal bossing, Bowing of the legs, Enamel hypomineralization, Spi...	OMIM:307800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Overlapping toe, Tapered finger, Microcephaly, Cryptorchidism, Obesity, 2-3 toe ...	OMIM:618653
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urinary tract, Micrognathia, ...	ORPHA:2995
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Microcephaly, Missing ribs, Cleft upper lip, Small...	ORPHA:50
Webb-Dattani Syndrome	Neurogenic bladder, Cryptorchidism, Deep philtrum, Hip dislocation, Obesity, Hyposthenuria, Secon...	OMIM:615926
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Microcephaly, Hyperlordosis,...	ORPHA:3130
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Pectus excavatum, Hemivertebrae, High palate, Scoliosis, ...	OMIM:104350
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Hypergonadotropic hypogonadism, Proteinuria, Tremor, Renal cyst, Nephro...	OMIM:212065
Pycnodysostosis	Frontal bossing, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary ...	OMIM:265800
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Renal agenesis, Microcephaly, Cleft upper lip, Cryptorchidism, Postaxial hand p...	OMIM:264480
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid...	ORPHA:124
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Dolichocephaly, Dental malocclusion, Obesity, Hydronephrosis, Lar...	ORPHA:48652
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Vesicoure...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Vesicoure...	ORPHA:353277
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,...	OMIM:616007
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Talipes, Craniosynostosis, Microcephaly, Cryptorchidism, Cleft palate, Furrowed tongue, Plagiocep...	ORPHA:453499
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Abnormality of the hand, Microcephaly, Abnormal thumb morphology, Abnormal hand morpholo...	ORPHA:101000
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange...	OMIM:300166
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, High palate, Narrow c...	ORPHA:280633
Hurler Syndrome	Short neck, Metaphyseal widening, Microdontia, Hypoplasia of the femoral head, Hypoplasia of the ...	OMIM:607014
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Microdont...	ORPHA:289
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Jacobsen Syndrome	Flat occiput, Hypospadias, Trigonocephaly, Micrognathia, Missing ribs, Cryptorchidism, Microcepha...	OMIM:147791
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Micrognathia, Microcephaly, Cryptorchidism, Thick lower lip ver...	OMIM:300519
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubulointerstitial nephr...	ORPHA:449395
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Neurogenic bladder, Mandibular prognathia, Tented upper lip vermilio...	ORPHA:488632
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosi...	ORPHA:14
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, T...	ORPHA:798
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement...	OMIM:261540
Trisomy 18	Bilateral single transverse palmar creases, Microretrognathia, Abnormality of the upper urinary t...	ORPHA:3380
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Small for gestational age, Hypospadias, Unilateral renal agenesis,...	ORPHA:464311
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Hypospadias, Unilateral renal agenesis, Missing ribs, Sh...	OMIM:151100
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Congenital Disorder Of Glycosylation, Type Iie	Smooth philtrum, Neurogenic bladder, Micrognathia, Short neck, Narrow mouth, Protruding tongue, R...	OMIM:608779
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo...	ORPHA:2879
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Flat occiput, Micrognathia, Short neck, Cryptorchidism, Postaxial hand ...	OMIM:235255
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Thin upper lip vermilion, Hydroureter, Small for gestational age, Toe ...	OMIM:300707
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow, Pectus excav...	ORPHA:254528
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli...	ORPHA:1297
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Down...	OMIM:136140
Dyrk1A-Related Intellectual Disability Syndrome	Structural foot deformity, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney,...	ORPHA:464306
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi...	OMIM:250250
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Short neck, Fetal pyelectasis, Nephroca...	ORPHA:264450
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Tetrasomy 9P	Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short philtr...	ORPHA:3310
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Micrognathia, Microcephaly, Cryptorchidism, 2-3 toe cutaneous syndactyl...	OMIM:618454
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Thoracolumbar kyphosco...	OMIM:252500
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ...	ORPHA:93101
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Dental malocclusion, Abnormal femur morpholog...	ORPHA:562
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato...	OMIM:601812
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Irregular, r...	ORPHA:289157
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Cockayne Syndrome	Urinary incontinence, Abnormal dental morphology, Cryptorchidism, Renal hypoplasia, Agenesis of p...	ORPHA:191
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Pes planus, Broad hallux, Arachnodactyly, Malar flattening, Pectus excavatum, Dental malocclusion...	OMIM:601552
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Tapered toe, Long-chain dicarboxylic aciduri...	OMIM:608836
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Hypospadias, Median cleft lip, Microgna...	ORPHA:2059
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Mandibular prognathia, Kyph...	OMIM:231070
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Brachycephaly, Abnormal form of the vertebr...	ORPHA:175
Gabriele-De Vries Syndrome	Hallux valgus, Abnormality of upper lip vermillion, Small for gestational age, Sandal gap, Sydney...	ORPHA:506358
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Holoprosencephaly 9	Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Postaxial ...	OMIM:610829
Aneurysm-Osteoarthritis Syndrome	Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, ...	ORPHA:284984
Williams Syndrome	Hypoplasia of penis, Micrognathia, Abnormal tubulointerstitial morphology, Abnormal form of the v...	ORPHA:904
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver...	OMIM:143095
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L...	OMIM:127550
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinova...	ORPHA:86822
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Micro Syndrome	Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Kyphosis, Abnormal localization ...	ORPHA:2510
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Iniencephaly	Rhizomelia, Renal agenesis, Rocker bottom foot, Hyperlordosis, Abnormal occipital bone morphology...	ORPHA:63259
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M...	OMIM:612651
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Thin upper lip vermilion, Hypospad...	ORPHA:163979
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Narrow mouth, Renal hypoplasia, Macrocephaly, Vesicoureteral reflux, Fa...	OMIM:613735
Coffin-Siris Syndrome 1	Single transverse palmar crease, Ectopic kidney, Conical tooth, Brachycephaly, Prominent interpha...	OMIM:135900
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Missing ribs	ORPHA:1759
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Protruding tongue, Gingival overgrowth, Scoliosis, Long philtrum, Trigonocephaly, F...	OMIM:619179
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Talipes, Urinary incontinence, Micr...	ORPHA:2729
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Microcephaly, Renal hypoplasia, N...	OMIM:617913
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Hypospadias, Dental crowding, Aplasia/Hypoplasia of the sternum,...	OMIM:219000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Flat occiput, Micrognathia, Short neck, Cryptorchidism, Postaxial hand ...	ORPHA:1655
Localized Scleroderma	Abnormality of the kidney, Abnormality of the dentition, Dental malocclusion, Abnormal facial ske...	ORPHA:90289
Alg9-Cdg	Micrognathia, Short neck, Brachycephaly, Narrow greater sciatic notch, Bifid uvula, Microretrogna...	ORPHA:79328
Kabuki Syndrome 1	Crossed fused renal ectopia, Congenital hip dislocation, Micrognathia, Microcephaly, Cryptorchidi...	OMIM:147920
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ...	ORPHA:85165
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn...	ORPHA:89936
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Tented upper lip vermilion, Abnormality ...	ORPHA:847
Sotos Syndrome	Ureteral duplication, No permanent dentition, Pedal edema, Increased head circumference, Vesicour...	ORPHA:821
Noonan Syndrome 1	Pectus excavatum of inferior sternum, Failure to thrive in infancy, Hypospadias, Kyphoscoliosis, ...	OMIM:163950
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Weight loss, Unilateral r...	ORPHA:49041
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxial foot polydact...	OMIM:615989
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ...	ORPHA:1896
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
1P36 Deletion Syndrome	Hypoplasia of penis, Brachycephaly, Renal cyst, Clinodactyly of the 5th finger, Hypospadias, Abno...	ORPHA:1606
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Ureterocele, Vesico...	OMIM:604292
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ectopic kidney, Micrognathia, Hypo...	OMIM:164210
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Pect...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Pect...	ORPHA:363958
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Long thorax, Short ...	OMIM:616268
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Micrognathia, Hypophosphaturia, Hyperlordosis, Dental malocclusion, Localized h...	ORPHA:73223
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Microcephaly, Pectus excavatum, Cleft palate, High palate, Failure to thrive, Hydronephrosis	ORPHA:488613
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palmar crease, Micrognathia, M...	ORPHA:83617
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Microcephaly, Missing...	OMIM:304050
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Toe syndactyly...	ORPHA:2052
Castleman Disease	Hematuria, Renal insufficiency, Ureteral obstruction, Weight loss	ORPHA:160
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Spi...	OMIM:182940
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Wide anterior fontanel, ...	OMIM:616482
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Frontal bossing, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism...	OMIM:620005
Fucosidosis	Cervical platyspondyly, Frontal bossing, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordos...	OMIM:230000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Kyphoscoliosis, Micrognathia, Renal hypoplasia/aplasia, Hyperlordosis, Abnormal tibia ...	ORPHA:363700
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpho...	ORPHA:2363
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Williams-Beuren Syndrome	Nephrocalcinosis, Clinodactyly of the 5th finger, Vesicoureteral reflux, Micropenis, Pelvic kidne...	OMIM:194050
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Testicular a...	OMIM:222300
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Abnormal clavicle morphology, Camptodacty...	ORPHA:3138
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Oeis Complex	Duplicated collecting system, Absence of the sacrum, 11 pairs of ribs, Hydroureter, Renal agenesi...	OMIM:258040
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Ureter...	OMIM:129900
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno...	ORPHA:249
Stromme Syndrome	Microcephaly, Micrognathia, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft palate, Wide ...	OMIM:243605
Keutel Syndrome	Recurrent sinusitis, Midface retrusion, Calcification of cartilage, Short distal phalanx of finger	ORPHA:85202
Acromelic Frontonasal Dysplasia	Median cleft lip, Cryptorchidism, Brachycephaly, Patellar hypoplasia, Wide mouth, Talipes equinov...	ORPHA:1827
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Microcephaly, Abnormality of the den...	ORPHA:2315
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease...	OMIM:618161
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ...	OMIM:602200
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Single transverse palmar crease, Microcephaly, Cryptorchidism...	OMIM:612541
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Dystonia, Hepatomegaly, Anisocytosis, Cardiomegaly, Leukocytos...	OMIM:618278
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Weight loss, Hema...	ORPHA:900
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Micrognathia, Metatarsus adductus, Hypoplastic labia majora, Hypochol...	OMIM:244450
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Kyphoscoliosis, Dentinogenesis imperfecta, Hip dislocation, Platyspondyly, Vertebr...	OMIM:616507
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:236680
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop...	ORPHA:31150
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Coronal cl...	OMIM:620025
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Short neck, Brachycephaly, Widely spaced teeth, C...	ORPHA:709
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Prominent floating ribs...	ORPHA:2785
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocat...	OMIM:606170
Loeys-Dietz Syndrome 3	Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, Bifid uvula, Ara...	OMIM:613795
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Microcephaly, Hydronephrosis, Drumstick terminal phalanges	ORPHA:541423
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High palate, Thoraco...	ORPHA:480880
Cat Eye Syndrome	Renal agenesis, Micrognathia, Absent radius, Horseshoe kidney, Cleft palate, Vesicoureteral reflu...	OMIM:115470
Joubert Syndrome 21	Renal cyst, Bell-shaped thorax, Short ribs, Hyperechogenic kidneys, Chronic sinusitis	OMIM:615636
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Phocomelia, Multicystic kidney dysplasia, Aplastic clavicle, Abnormal...	ORPHA:2538
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney d...	ORPHA:500095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hemivertebrae, Abnormal verte...	ORPHA:77298
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifi...	OMIM:607872
Charge Syndrome	Delayed eruption of teeth, Talipes, Microcephaly, Cleft upper lip, Cryptorchidism, Abnormal tibia...	ORPHA:138
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypospadias, Cryptorchidism, Cleft lip, Dental malocclusion, Cleft pa...	OMIM:603457
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Sandal gap, Micrognathia, Microcephaly, Malar prom...	OMIM:251260
Dubowitz Syndrome	Syndactyly, Pes planus, Aplastic anemia, Hypospadias, Micrognathia, Cryptorchidism, Acute lymphob...	OMIM:223370
Tibial Hemimelia	Absent tibia	OMIM:275220
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Clubbin...	ORPHA:97214
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Frontal bossing, Hydroureter, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnorma...	ORPHA:2273
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Opitz Gbbb Syndrome	Natal tooth, Hypospadias, Craniosynostosis, Micrognathia, Microcephaly, Cryptorchidism, Cleft lip...	ORPHA:2745
White-Kernohan Syndrome	Thin upper lip vermilion, Hydroureter, Tented upper lip vermilion, Obesity, Horseshoe kidney, Wid...	OMIM:619426
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Micrognathia	OMIM:607598
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Sandal gap, Microcephaly, Short...	OMIM:620330
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Rickets of the lowe...	ORPHA:289176
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Bowing of the...	OMIM:114000
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Cutis Laxa, Autosomal Recessive, Type Ic	Sandal gap, Single transverse palmar crease, Micrognathia, Dolichocephaly, Multiple bladder diver...	OMIM:613177
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Micropenis, Hypop...	OMIM:214800
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Weight loss, Abnormal epiphysis morphology, Abnormal metaphysis mor...	ORPHA:35687
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261537
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Talipes, Microcephaly, Submucous cleft hard palate, Renal hypoplasia, Vesi...	OMIM:617660
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Microcephaly, Vesicovaginal fistula, Fused teeth,...	OMIM:300896
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, ...	OMIM:236700
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Absence of the sacrum	OMIM:270100
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Pectus excavatum, Cryptorchidism, Br...	OMIM:601776
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix	OMIM:245650
Holoprosencephaly 3	Proboscis, Microcephaly, Cleft lip, Cleft palate, Hydronephrosis, Midface retrusion, Solitary med...	OMIM:142945
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Secondary microcephaly, Primary microcep...	OMIM:617093
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:2152
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Meckel Syndrome, Type 1	Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxia...	OMIM:249000
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Pilonidal sinus, Unilateral renal agenesis, Micrognathia, M...	OMIM:188400
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Tented ...	OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261552
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Hypospadias, Micrognathia, Microcephaly, Small hand, Obesity, Horseshoe...	ORPHA:444077
Vacterl With Hydrocephalus	Absence of the sacrum, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Hy...	ORPHA:3412
Moderate Hemophilia A	Hematuria, Hip contracture, Cartilage destruction, Gingival bleeding	ORPHA:169805
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased size of the mandible, Hydronephrosis, Smooth philtrum	OMIM:300048
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Pre...	ORPHA:845
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Sirenomelia	Absence of the sacrum, Renal hypoplasia/aplasia, Sirenomelia, Aplasia/Hypoplasia of the radius, A...	ORPHA:3169
Viss Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Pectus carinatum, High palate, Broad uvula, Bif...	OMIM:619472
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Tibial bowing,...	OMIM:259770
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, K...	ORPHA:90324
Igg4-Related Aortitis	Low back pain, Hydronephrosis, Weight loss	ORPHA:449400
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Currarino Syndrome	Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Lower limb asymmetry, Aplasia/Hypoplas...	ORPHA:1552
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hydronephrosis, Hematuri...	ORPHA:79403
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth, Cervical C2/C3 vertebral fu...	ORPHA:1780
Microphthalmia, Syndromic 9	Renal malrotation, Micrognathia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Pelvic kidne...	OMIM:601186
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Limb Body Wall Complex	Thoracoabdominal wall defect, Duplication of hand bones, Broad hallux, Abnormality of the kidney,...	ORPHA:2369
Congenital Disorder Of Glycosylation, Type It	Micrognathia, Pierre-Robin sequence, Cleft palate, Hydronephrosis, Bifid uvula	OMIM:614921
Knobloch Syndrome 1	Duplicated collecting system, Microcephaly, Spina bifida occulta, Midface retrusion, Bifid ureter...	OMIM:267750
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Hereditary Orotic Aciduria	Orotic acid crystalluria, Abnormality of the ureter, Aminoaciduria, Hip dysplasia, Oroticaciduria	ORPHA:30
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Micrognathia, Absent radius, Short n...	OMIM:614083
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Micrognathia, Cleft lip, Dilatation of the renal pelvis, Brachycephaly,...	OMIM:265380
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Overlapping toe, Genu recurvatum, Hip dislocation,...	OMIM:617301
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Abnormality of the urinary sy...	ORPHA:158684
Dextrocardia	Congenital hip dislocation, Abnormal foot morphology, Abnormal renal morphology, Abnormal rib mor...	ORPHA:1666
Alkaptonuria	Cartilage destruction, Nephrolithiasis, Aminoaciduria, Calcification of cartilage, Thickened Achi...	ORPHA:56
Peutz-Jeghers Syndrome	Clubbing, Abnormality of the ureter, Oral melanotic macule, Clubbing of fingers, Labial melanotic...	OMIM:175200
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Exaggerated startle response, Pes cavus, Absent Achilles reflex	OMIM:609541
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Macrocephaly	ORPHA:2396
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe	OMIM:618598
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Exaggerated startle response, Elevated circulating creatine kinase conce...	OMIM:253800
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Hydronephrosis	OMIM:620327
Adult-Onset Still Disease	Cartilage destruction	ORPHA:829
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Johanson-Blizzard Syndrome	Small for gestational age, Hypospadias, Urethrovaginal fistula, Microcephaly, Single transverse p...	OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Cryptorchidism, Deep philtrum, Nephrolithiasis, Hip dysplasia, Scoliosis, Vesicoureteral reflux, ...	ORPHA:438213
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis	OMIM:613001
Asparagine Synthetase Deficiency	Exaggerated startle response, Micrognathia, Tremor, Large hands, Long foot, Hypoasparaginemia	OMIM:615574
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Frontal bossing, Postaxial polydactyly, Dilatation o...	OMIM:619534
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Clinodactyly of the 5th finger, Exaggerated startle response, Tremor, Truncal titubation	OMIM:618056
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Hydronephrosis	ORPHA:210122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Decreased testicular size, Multicystic kidney dysplasia, Micropenis, Hydronephr...	OMIM:615287
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Polycystic kidney d...	ORPHA:2237
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Hyporeflexia of lower limbs, Exaggerated startle response, Pes cavus	ORPHA:320406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Reactive Arthritis	Cartilage destruction, Recurrent urinary tract infections, Recurrent aphthous stomatitis, Weight ...	ORPHA:29207
Liver Disease, Severe Congenital	Macrocephaly at birth, Recurrent urinary tract infections, Hypospadias, Micrognathia, Hydrocele t...	OMIM:619991
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo...	OMIM:615709
Currarino Syndrome	Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Hemisacrum, Urinar...	OMIM:176450
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge...	OMIM:617527
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Peutz-Jeghers Syndrome	Abnormal pigmentation of the oral mucosa, Renal cell carcinoma, Abnormality of the ureter, Multip...	ORPHA:2869
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Microcepha...	ORPHA:322
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Knee joint - MPATH pathological process term developmental dysplasia	Dym^em1(IMPC)Tcp	HOM		Early adult
Knee joint - MPATH pathological entity term osteopenia	Dym^em1(IMPC)Tcp	HOM		Early adult

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 Dym.

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

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MGI Allele	Allele Type	Produced
Dym^em1(IMPC)Tcp	Exon Deletion	Mice

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: Dym MGI:1918480

Gene Summary

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Human diseases caused by Dym mutations

Histopathology

IMPC related publications

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