Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

GLI-Kruppel family member GLI2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Gli2 mutations

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

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

The table below shows human diseases predicted to be associated to Gli2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Atelosteogenesis, Type Iii
Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Tibial bowing, Knee dislo... OMIM:108721
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... OMIM:228520
Atelosteogenesis, Type I
Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr... OMIM:108720
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi... ORPHA:3348
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... OMIM:100800
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhiz... OMIM:151210
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... OMIM:171480
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... OMIM:227270
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bod... ORPHA:1856
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ... OMIM:164745
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Absent forearm, Posteriorly rotated ears, Overlapping toe, Single transverse pa... OMIM:201170
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... ORPHA:2616
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... OMIM:154780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Micrognathia, Multiple prenatal fractures, Beaded ribs, Short neck, F... OMIM:616897
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag... OMIM:210600
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con... OMIM:602471
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... OMIM:211350
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Femoral-Facial Syndrome
Micrognathia, Orofacial cleft, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of th... ORPHA:1988
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Midface retrusion, Micromelia, Short 4th metacarpal, Epiphyseal stippling, Short long bone, Coron... OMIM:118651
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca... ORPHA:958
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, Ab... ORPHA:950
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Intestinal malrotation, C... ORPHA:3035
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Thickened calvaria, Pers... OMIM:265900
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Polyhydramnios, Narrow chest, Short phal... ORPHA:56304
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat... OMIM:617866
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... OMIM:256050
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Flexio... OMIM:222765
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia ORPHA:228169
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... ORPHA:79106
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... ORPHA:94068
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Short neck, Simplified gyral pattern, Narrow chest, Neonatal death, Sho... OMIM:251230
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... OMIM:268305
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Schneckenbecken Dysplasia
Micromelia, Short neck, Lateral clavicle hook, Polyhydramnios, Lymphedema, Abnormal form of the v... ORPHA:3144
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Atelosteogenesis Type I
Joint dislocation, Polyhydramnios, Micrognathia, Narrow chest, Absent or minimally ossified verte... ORPHA:1190
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
W Syndrome
Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow disloc... ORPHA:2804
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl... OMIM:619135
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... OMIM:271640
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... ORPHA:2563
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Campomelic Dysplasia
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... OMIM:258850
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... ORPHA:440354
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... ORPHA:2831
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo... OMIM:612447
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Brachycephaly, Long thorax... OMIM:617925
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... OMIM:252100
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac... OMIM:300373
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance OMIM:600116
Turnpenny-Fry Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Brachycepha... OMIM:618371
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Abnor... ORPHA:3268
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fet... ORPHA:2879
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation... OMIM:128230
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... OMIM:311900
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Tracheal atresia OMIM:601612
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... ORPHA:1452
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co... OMIM:613091
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Dolichocephaly, Short neck, Mul... OMIM:618395
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Narrow chest, ... ORPHA:163649
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Microtia, Everted l... ORPHA:357175
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Downturned corners ... OMIM:615162
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... OMIM:157980
Van Bogaert-Hozay Syndrome
Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m... OMIM:277150
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... OMIM:300423
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th... ORPHA:628
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... OMIM:620076
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Tapered finger,... OMIM:300602
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Micrognathia, Porencephalic cyst, Anteriorly placed a... OMIM:117650
Orofaciodigital Syndrome Type 10
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... ORPHA:2756
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Polyhydramnios, Aplasia/Hypoplasia of... ORPHA:2256
Autosomal Dominant Omodysplasia
Short humerus, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation... ORPHA:93328
Thanatophoric Dysplasia Type 1
Micromelia, Polyhydramnios, Femoral bowing, Narrow chest, Cloverleaf skull, Abnormal sacroiliac j... ORPHA:1860
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Microcephaly, Coxa ... OMIM:616716
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Lymphedema, Calvarial skull ... ORPHA:1426
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos... ORPHA:93267
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Stillbirth OMIM:265880
Schneckenbecken Dysplasia
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... OMIM:269250
Kinsship Syndrome
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... OMIM:619297
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavi... OMIM:620099
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Narrow... ORPHA:93316
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m... OMIM:602535
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Death in infancy, Micromeli... ORPHA:166272
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Pulmonary hypoplasia ORPHA:3032
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia OMIM:604213
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... OMIM:612067
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Tricho-Dento-Osseous Syndrome
Frontal bossing, Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, En... ORPHA:3352
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,... OMIM:311895
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Micrognathia, Pectus excavatum, Postaxial polydactyly, Acces... OMIM:258860
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
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
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Pec... OMIM:301014
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed... OMIM:616583
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Cerebral calcification, Micromelia, Short neck, Hypoplasia o... ORPHA:1798
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar... OMIM:122470
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... ORPHA:454887
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, P... OMIM:263750
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Generalized... OMIM:600373
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... OMIM:218600
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia OMIM:128235
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Orofaciodigital Syndrome Type 3
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... ORPHA:2752
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thu... OMIM:620113
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Abnormal pinna morphology, Sandal gap, Rhiz... OMIM:607143
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, E... OMIM:274000
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... ORPHA:314632
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... ORPHA:2886
Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr... ORPHA:763
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Ulbright-Hodes Syndrome
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... ORPHA:3404
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... OMIM:618363
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Otoonychoperoneal Syndrome
Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f... OMIM:259780
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... ORPHA:949
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Atelosteogenesis Type Iii
Polyhydramnios, Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Sho... ORPHA:56305
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... OMIM:190351
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... OMIM:276820
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Rubinstein-Taybi Syndrome 2
Syndactyly, Posteriorly rotated ears, Intestinal malrotation, Broad hallux, Micrognathia, Carious... OMIM:613684
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Edema, Macroglossia, Short ... ORPHA:1423
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Joint sti... ORPHA:1801
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... OMIM:616531
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Anauxetic Dysplasia 3
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphosco... OMIM:618853
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Polyhydramnios, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing mo... ORPHA:1427
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... ORPHA:916
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract... OMIM:601559
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Premature osteoarthri... OMIM:184840
Trichorhinophalangeal Syndrome Type 1
Frontal bossing, Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of t... ORPHA:77258
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate... ORPHA:314795
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla... ORPHA:776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Lethal Kniest-Like Dysplasia
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Mesomelic/rhizomel... ORPHA:2347
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... ORPHA:85184
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum... OMIM:615398
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Scarf Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Abnormal form of the vertebral b... ORPHA:3134
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala... ORPHA:1277
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Narrow chest, ... OMIM:218330
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Edema, Micrognathia, Microcephaly, Cleft palate, Cerebellar hypoplasia, Low-s... OMIM:616570
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Absent septum pellucidum, Bilateral cleft lip, Cleft upper l... OMIM:601357
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Loss of ambulation... ORPHA:521406
Hall-Riggs Syndrome
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Microcephaly, Kyphosis, Thick lower lip verm... OMIM:234250
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... ORPHA:2501
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va... OMIM:269300
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia OMIM:300484
Pelviscapular Dysplasia
Frontal bossing, Brachydactyly, Hypoplastic scapulae, Abnormal pinna morphology, Congenital hip d... ORPHA:93333
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Cleft palate OMIM:615524
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Br... OMIM:607136
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Anal a... ORPHA:3301
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large ili... ORPHA:2780
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatu... OMIM:259440
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... OMIM:156550
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... ORPHA:915
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... ORPHA:2249
Vacterl/Vater Association
Occipital encephalocele, Congenital diaphragmatic hernia, Anorectal anomaly, Anencephaly, Tracheo... ORPHA:887
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontanel, Sensorineural hearing i... OMIM:222448
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... ORPHA:2980
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, J... ORPHA:40
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Frontal bossing, Posteriorly rotated ears, Rhizomelia, Cranios... ORPHA:93329
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... OMIM:200600
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Wide anterior fon... OMIM:207410
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... ORPHA:96334
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Pectus... ORPHA:1388
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Flat occiput, Abnormality of the ear, Abnormal finger morphology, Brachyce... ORPHA:2511
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis... ORPHA:1018
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon... OMIM:239000
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Short thorax, Abnorma... ORPHA:85166
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G... OMIM:616145
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... OMIM:609324
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t... ORPHA:2491
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super... ORPHA:1787
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:605909
Mosaic Variegated Aneuploidy Syndrome 1
Posteriorly rotated ears, Micrognathia, Hypodysplasia of the corpus callosum, Microcephaly, Short... OMIM:257300
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... ORPHA:1350
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Orofaciodigital Syndrome Type 2
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... ORPHA:2751
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectu... OMIM:609223
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Congenital Diaphragmatic Hernia
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... ORPHA:2140
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... ORPHA:163966
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Distal Duplication 5Q
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Carious teeth, Absent thumb, Microcephaly... ORPHA:96097
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... OMIM:221820
Juberg-Hayward Syndrome
Toe syndactyly, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, ... ORPHA:2319
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... ORPHA:319195
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc... OMIM:271665
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... OMIM:182212
Immunodeficiency 12
Recurrent lower respiratory tract infections, Esophageal stricture, Bronchiectasis OMIM:615468
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Scarf Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Short neck, Abnormal form of the vertebral bodies,... OMIM:312830
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Short ne... OMIM:210710
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... OMIM:249600
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal dental en... ORPHA:582
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Frontal bossing, Microcephaly, Hypoplasia of the odontoid proce... ORPHA:85172
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Barrel-shaped chest, Relative macrocephaly, Posteriorly rota... OMIM:612813
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Trigonocephaly... ORPHA:79113
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Aminopterin Syndrome Sine Aminopterin
Thoracic scoliosis, Micrognathia, Brachycephaly, Oligodontia, High palate, Syndactyly, Rudimentar... OMIM:600325
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome... OMIM:258315
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Pulmonary hypoplasia, Tracheomalacia OMIM:245650
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Micrognathia, Bowing of the legs, Short neck, Flexion contracture, Hydrops fetalis, N... ORPHA:1865
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... ORPHA:2141
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia OMIM:617384
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Short metatar... ORPHA:439822
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Achondrogenesis Type 1A
Multiple rib fractures, Frontal bossing, Recurrent fractures, Micromelia, Micrognathia, Abnormal ... ORPHA:93299
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Dolichocephaly, Carious teeth... OMIM:617102
Alagille Syndrome
Hypoplasia of the ulna, Frontal bossing, Micrognathia, Abnormal rib morphology, Brachycephaly, Ab... ORPHA:52
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Cohen Syndrome
Pes planus, Thoracic scoliosis, Short metacarpal, Lumbar hyperlordosis, Single transverse palmar ... OMIM:216550
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... OMIM:142900
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bone... OMIM:616229
Achondrogenesis Type 1B
Frontal bossing, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Polyhydr... ORPHA:93298
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... OMIM:184250
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... ORPHA:1765
Grant Syndrome
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r... ORPHA:2097
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... ORPHA:1597
Anauxetic Dysplasia 2
Short neck, Flexion contracture, Coxa vara, Hypoplasia of the femoral head, Thoracolumbar kyphosc... OMIM:617396
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Midface retrusion, Polyhydramnios, Short neck, Kyphosis, Par... ORPHA:420794
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... OMIM:615777
Pseudodiastrophic Dysplasia
Smooth philtrum, Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micro... OMIM:264180
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormality of the e... ORPHA:457395
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... ORPHA:250984
Fibrochondrogenesis 2
Frontal bossing, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wid... OMIM:614524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragma... OMIM:601163
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Frontal bossing, Kyphoscoliosis, Wide anterior fontanel, Dental ... OMIM:608545
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop... ORPHA:1540
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender lon... OMIM:608154
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, F... OMIM:200610
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Death in infancy, Polyhyd... OMIM:616809
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor... OMIM:255800
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe... ORPHA:1327
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barr... OMIM:607095
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ... OMIM:212720
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Rhyns Syndrome
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short... OMIM:602152
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas... OMIM:614900
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Joint dislocation, Cerebral calcification, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry,... ORPHA:85198
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal... ORPHA:2145
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn... ORPHA:1307
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla, A... ORPHA:93262
Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ... OMIM:612651
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Pectus excavatum, Microcephaly,... ORPHA:1695
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac... OMIM:108300
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Joint dislocation, Thin upper lip vermilion, Bilateral single ... ORPHA:502
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... OMIM:269150
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple pre... OMIM:259420
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis OMIM:615643
Intellectual Disability, Birk-Barel Type
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... ORPHA:166108
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Microcephaly, Abnormality of the denti... OMIM:258865
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... ORPHA:192
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Fetal ascites, Squared ilia... OMIM:215045
Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Sho... ORPHA:356961
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Protruding ear,... ORPHA:85279
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Edema, Hypoplas... ORPHA:93296
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Frontal bossing, Abnormal rib morphology, Macrocephaly, Conductive hea... ORPHA:1513
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... OMIM:610967
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... ORPHA:3201
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... ORPHA:90653
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Frontal bossing, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, ... OMIM:600204
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral clavicle hook, Brachycephaly, Hydrops fetalis, Pectus carin... OMIM:263520
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Midface retrusion, Short dis... ORPHA:2776
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clino... OMIM:614701
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren... ORPHA:85202
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flexion contract... OMIM:224690
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Pectus c... OMIM:300676
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal sensory impairment, D... OMIM:603516
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... OMIM:255320
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking ORPHA:306669
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361