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 associated to Gli2 by orthology or direct annotation.

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
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac... OMIM:108721
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Fibrochondrogenesis 1
Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, S... OMIM:228520
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Atelosteogenesis, Type I
Polyhydramnios, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multin... OMIM:108720
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Bilateral external ear deformity, Ulnar deviation of the hand, Aceta... ORPHA:93307
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Tracheal calcification, Calcification of cartilage, Pneumonia, Atel... ORPHA:3348
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Oligodontia, Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased sus... OMIM:224300
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Large fontanelles, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flex... OMIM:222765
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Split hand, Shoulder dislocation, Absent radius, Stenosis of the external audi... OMIM:171480
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ... OMIM:227270
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra... OMIM:616897
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Cleft palate, ... ORPHA:166016
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Dental crowding, Pes planus, Small anterior fontanelle, Sandal gap,... OMIM:210600
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Narrow mouth,... OMIM:201170
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Limited shoulder movement, Duplica... ORPHA:93320
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Femoral-Facial Syndrome
Scoliosis, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Abnormality of p... ORPHA:1988
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul... ORPHA:1972
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Microcephaly-Micromelia Syndrome
Craniosynostosis, Narrow mouth, Narrow chest, Forearm undergrowth, Absent radius, Abnormality of ... OMIM:251230
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Midfac... OMIM:118651
Campomelic Dysplasia
Polyhydramnios, Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hypoplastic cer... OMIM:114290
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Abnorm... ORPHA:2616
Marshall Syndrome
Wide tufts of distal phalanges, Sensorineural hearing impairment, Meningeal calcification, Irregu... OMIM:154780
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Pyle Disease
Scoliosis, Limited elbow extension, Genu valgum, Delayed eruption of teeth, Carious teeth, Platys... OMIM:265900
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet... OMIM:256050
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Frontal bossing, Pes planus, Camptoda... OMIM:311450
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Narrow iliac wing, Joint contr... OMIM:601668
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Atelosteogenesis Type Ii
Polyhydramnios, Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Campt... ORPHA:56304
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Intestinal malrotation, Tibial bowing, Intrauterine grow... ORPHA:3035
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Ulnar bowing, Thin clavicles, Na... OMIM:210720
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Increased head circumference, Flat acetabular roof, Small epiphyses, Short femoral nec... ORPHA:94068
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela... OMIM:600002
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Platyspondyly, Flared iliac wing, Rhizomelia, Irregular s... OMIM:602111
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia, Laryngomalacia ORPHA:93941
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared me... OMIM:601561
Microphthalmia With Limb Anomalies
Sandal gap, High palate, Postaxial hand polydactyly, Foot oligodactyly, Low-set ears, Camptodacty... OMIM:206920
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Tarp Syndrome
Large fontanelles, Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Prominent an... OMIM:311900
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... OMIM:612447
Schneckenbecken Dysplasia
Polyhydramnios, Narrow chest, Increased fibular diameter, Abnormality of the metaphysis, Short ne... ORPHA:3144
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Scoliosis, Carpal bone hypoplasia, Thoracic kyphosis... OMIM:304950
Atelosteogenesis Type I
Scoliosis, Polyhydramnios, Narrow chest, Abnormality of fibula morphology, Micrognathia, Short fe... ORPHA:1190
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Elbow disloca... ORPHA:321
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Frontal bossing, Midface retrusion, Rhizomelia, Hypoplastic scapulae, ... ORPHA:440354
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Tongue nodules, Pectus excavatum, Short sternum, Kyphosis, Low-set ea... OMIM:258850
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Short neck, Taurodontia, Fr... ORPHA:2563
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,... ORPHA:100984
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... ORPHA:2831
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Phocomelia, Schinzel Type
Abnormality of tibia morphology, Hydrops fetalis, Calvarial skull defect, High, narrow palate, Sh... ORPHA:2879
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Conductive hearing impairment, R... OMIM:602471
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... OMIM:252100
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short philtrum, Platyspondyly, Short neck,... ORPHA:93267
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow gr... OMIM:617925
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Congenital Disorder Of Glycosylation, Type Ig
Polyhydramnios, Hypoplasia of the radius, Short femur, Short philtrum, Midface retrusion, Rhizome... OMIM:607143
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Polyhydramnios, Delayed closure of the anterior fontanelle, Large fontanelles, Dental ... OMIM:300373
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Frontal bossing, Limited elbow ... OMIM:164745
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Hypoplasia of olfactory tract, Small... ORPHA:140
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Everted lower lip vermilion, Flat occiput, Hypoplasia of the ulna, Thin upper lip ... ORPHA:357175
Mental Retardation, Autosomal Recessive 35
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Flat occiput, Hypoplasia... OMIM:615162
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Polyhydramnios, Death in infancy, Ulnar deviation of the hand, Stenosis of the external auditory ... OMIM:602613
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... OMIM:156510
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Abnormal form of the vertebral bodie... ORPHA:1788
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin vermilion border, Narrow mouth, Short neck, Oligo... OMIM:266910
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Narrow che... ORPHA:1452
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Narrow chest, Anterior plagio... ORPHA:163649
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Narrow mouth, Increased nuchal translucency, Wrist... OMIM:619110
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Small earlobe, Wormian bones, Short metatarsal, Narrow mouth, D... OMIM:211910
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Tracheal atresia OMIM:601612
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ... OMIM:618363
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, C... ORPHA:1426
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Overfolded helix, Short distal phalanx of finger, Pectus... OMIM:602535
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Turnpenny-Fry Syndrome
Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, ... OMIM:618371
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Joint laxity, Multiple prenatal fractures, Type 1 collagen overmodifica... OMIM:610915
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Intestinal malrotation, Hydrocephalus OMIM:236640
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Sensorineural hearing impairment, Absent radius, Phocomelia, Micrognathia... ORPHA:3320
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Narrow chest, Frontal bossing, Pectus carinatum, Pectus excavatum, Long foot, Mandibul... OMIM:300676
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death i... OMIM:184260
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Broad thumb, Tarsal synostosis, Elbow disloc... ORPHA:1106
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Amelogenesis imperfecta, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomeli... OMIM:610319
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Tooth malposition, Abnormality of the pinna, Micrognathia, Osteolytic de... OMIM:277150
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia OMIM:609161
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Autosomal Dominant Omodysplasia
Long philtrum, Frontal bossing, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humeru... ORPHA:93328
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, S... OMIM:613091
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Intestinal malrotation ORPHA:3032
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fr... OMIM:601559
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Multiple joint dislocation, Joint laxity, Metap... OMIM:618395
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, High palate, Micrognathia, Elbow flexion ... OMIM:200980
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia OMIM:619052
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Scoliosis, Delayed eruption of teeth, Platyspondyly, Narrow chest, Square pelvis bone, Frontal bo... ORPHA:166272
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Polyhydramnios, Abnormality of long bone morphology, Narrow chest, Pol... ORPHA:1505
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Dental crowding, High palate, High, narrow palate, Uln... OMIM:600920
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Broad palm, Genu recurvatum, Kyphosis, Max... OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Otospondylomegaepiphyseal Dysplasia
Polyhydramnios, Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensori... ORPHA:1427
Stillbirth OMIM:265880
Thanatophoric Dysplasia Type 1
Polyhydramnios, Narrow chest, Split hand, Short greater sciatic notch, Increased nuchal transluce... ORPHA:1860
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Short neck, Taurodontia, Frontal bossing, Long foot, Sh... OMIM:157980
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, ... OMIM:609945
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Conduct... ORPHA:2878
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Overfolded helix, Abnormality of the metacarpal bones, Increased bo... ORPHA:628
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Polyhydramnios, Frontal bossing, Finger syndactyly... ORPHA:2256
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Limb dystonia, Babinsk... OMIM:618824
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ... OMIM:608940
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Frontal bossing, Midface retrusion, Postaxial oligodactyly, Malar flattening, Fib... OMIM:608571
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Attention d... OMIM:617384
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Trismus, Joint stiffness, Kyphoscol... OMIM:616583
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Arthrogryposis multiplex congenita, Low-set ears, Edema, Cleft palate, Intrau... OMIM:616570
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Enlarged epiphyses, Pierre-Robin sequence, Midface retrusion, Sensorineural hearin... OMIM:184840
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Lethal Kniest-Like Dysplasia
Polyhydramnios, Narrow chest, Abnormality of the ischium, Abnormal cartilage morphology, Short ne... ORPHA:2347
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Pectus carinatum, Flattened proximal rad... OMIM:271530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Increased bone mineral density, Cerebral calcific... ORPHA:2780
Boomerang Dysplasia
Polyhydramnios, Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone o... ORPHA:1263
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Broad palm, Genu recurvatum, Kyphosis, Max... OMIM:300431
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral ... OMIM:300232
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla... OMIM:263540
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Cerebrocostomandibular Syndrome
Scoliosis, Polyhydramnios, Congenital hip dislocation, High palate, Elbow flexion contracture, Mi... OMIM:117650
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Finger clinodactyly, Front... ORPHA:3352
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Midface retrusion, Mandibular prognathia, T... ORPHA:1248
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow dislocation, Small anterior fontanelle, Micrognathia, Elbow flexion contracture, Femoral bo... OMIM:210710
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Pes planus, High palate, Short femoral neck, Flat capital ... OMIM:612350
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Short neck, Abnormality of the pinna, Low-set ears, Cleft palate, ... OMIM:616038
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Narrow chest, Joint laxity, Phalangeal dislocation, Br... OMIM:251450
Melnick-Needles Syndrome
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses ... OMIM:309350
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of... ORPHA:2632
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Narrow chest, Femoral bowing, Genu valgum, Wid... OMIM:618853
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Ulbright-Hodes Syndrome
Thin vermilion border, Narrow mouth, Bilateral external ear deformity, Phocomelia, Abnormality of... ORPHA:3404
Tarp Syndrome
Scoliosis, Small earlobe, Abnormality of the antihelix, Large fontanelles, Tongue nodules, Postax... ORPHA:2886
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Massively thickened long bone cortices, Abnormal dental ... ORPHA:1798
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow disloc... OMIM:143095
Temple Syndrome
Scoliosis, Joint hypermobility, Short philtrum, Frontal bossing, Recurrent otitis media, Flexion ... OMIM:616222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Pulmonary hypoplasia, Abnormality of the diaphragm, Congenital diaphragma... OMIM:601163
Cleidocranial Dysplasia
Enamel hypoplasia, Scoliosis, Wormian bones, Narrow palate, Narrow chest, Hypoplastic frontal sin... OMIM:119600
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Low-set ears, Fibular hypoplasi... OMIM:113470
Codas Syndrome
Enamel hypoplasia, Scoliosis, Polyhydramnios, Short phalanx of finger, Congenital hip dislocation... OMIM:600373
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto... OMIM:263750
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, ... OMIM:607095
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder mo... OMIM:218600
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Orofaciodigital Syndrome Iv
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Pectus excava... OMIM:258860
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Easily subluxated first metacarpophalangeal joints, Micrognathia, Pierre-Robin s... OMIM:311895
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphos... OMIM:223800
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Abnormal respirator... ORPHA:1018
Craniosynostosis-Fibular Aplasia Syndrome
Open bite, Wormian bones, Short neck, Large fontanelles, Talipes, Midface retrusion, Abnormal ste... ORPHA:1533
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High palate, Elbow fl... OMIM:276820
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Large fontanelles, Elbow dislocation, Talipes, Broad hallu... ORPHA:2249
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Long philtrum, Scoliosis, Short metatarsal, Short phalanx of finger, Dental crowding,... OMIM:190351
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Otoonychoperoneal Syndrome
Macrotia, Prominent superior crus of antihelix, Posteriorly rotated ears, Low-set ears, Aplasia/H... OMIM:259780
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Pectus excavatum, Beaded ribs, Kyphosi... OMIM:259440
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Platyspondyly, Osteoporosis, Thick lower lip vermilion, Hypoplasia ... OMIM:234250
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Atelosteogenesis Type Iii
Polyhydramnios, Elbow dislocation, Club-shaped distal femur, Absent radius, High palate, Microgna... ORPHA:56305
Cornelia De Lange Syndrome 1
Downturned corners of mouth, Sensorineural hearing impairment, Phocomelia, High palate, High, nar... OMIM:122470
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the tongue, Abnormality of the knee, Preaxial hand polydactyl... ORPHA:3098
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Platyspondyly, Short thorax, Hydrops fetalis, Narrow chest, Hypoplastic pelvis, H... ORPHA:85166
Kinsship Syndrome
Scoliosis, Downturned corners of mouth, Polydactyly, Pes planus, Mandibular prognathia, Death in ... OMIM:619297
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Sensorineural hearing impairment, Micrognathia, Coronal cleft vertebrae,... OMIM:215150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Scoliosis, Long philtrum, Osteoporosis, Downturned corners of mouth, Open mouth, Deep philtrum, P... OMIM:615398
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Mesomelia, Tooth agenesis, Long thorax, Abnormal shoulder morphology,... ORPHA:1277
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Elbow dislocation, Flared ... ORPHA:90652
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Frontal bossing, Hy... ORPHA:93333
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge ORPHA:2321
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Anal atresia, Tracheal stenosis, Apla... ORPHA:3301
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Bilateral single transvers... ORPHA:2511
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Camptodactyly of finger, Long philtrum, Hyperlordosis, Short metatarsal, Frontal bossi... ORPHA:77258
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Lethal Recessive Chondrodysplasia
Polyhydramnios, Macroglossia, Narrow chest, Flared elbow metaphyses, Generalized osteosclerosis, ... ORPHA:1423
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Congenital dia... ORPHA:2140
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Frontal bossing, Rhizomelia, Metaphy... ORPHA:163966
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Meg... OMIM:269300
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Short distal phalanx of finger, Sensorineural h... ORPHA:949
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Cone-shaped epiphyses of the phalanges of the ha... ORPHA:85172
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of... ORPHA:1350
Greenberg Dysplasia
Polyhydramnios, Epiphyseal stippling, Short phalanx of finger, Narrow chest, Intestinal malrotati... OMIM:215140
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Abnormality of the pinna, Hypoplasia of the ulna, Neonatal death, Syndactyly, Microgna... OMIM:228940
Osteogenesis Imperfecta, Type V
Platyspondyly, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Pes planus, Recurr... OMIM:610967
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, De... ORPHA:776
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Thoracic kyphosis, Pectus excavatum, Short sternum, Hamartoma of tong... ORPHA:2752
Dystonia 12
Dystonia, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism OMIM:128235
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Pulmonary hypoplasia, Tracheomalacia, Laryngomalacia OMIM:245650
Autosomal Recessive Omodysplasia
Long philtrum, Hypoplastic distal humeri, Craniosynostosis, Frontal bossing, Elbow dislocation, R... ORPHA:93329
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Oral cleft, Forearm undergrowth, Lower limb undergrowth, Microcephaly OMIM:218650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Pectus carinatum, Thoracic kyphos... OMIM:609223
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Kniest-Like Dysplasia, Lethal
Polyhydramnios, Narrow mouth, Metaphyseal irregularity, Narrow chest, Hypoplastic vertebral bodie... OMIM:245190
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Craniosynostosis, Abnormal form of the vertebral bodies, Pectus... ORPHA:3134
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Abnormality... ORPHA:2501
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central... ORPHA:99642
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Platyspondyly, Osteoporosis, Metaphyseal irregularity, Abnormality of de... ORPHA:319195
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Smith-Mccort Dysplasia 1
Scoliosis, Multicentric femoral head ossification, Short phalanx of finger, Metaphyseal irregular... OMIM:607326
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Absent p... OMIM:156530
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth f... ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... OMIM:602557
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Pulmonary fibrosis OMIM:613989
Orofaciodigital Syndrome Viii
Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, Median cleft lip OMIM:300484
Trisomy 4P
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A... ORPHA:1738
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Broad ribs, Thin calvarium, High palate, Osteopenia, Obtus... ORPHA:85184
Aarskog-Scott Syndrome
Pes planus, Oral cleft, Short neck, Broad foot, Hypoplasia of the maxilla, Long philtrum, Genu re... ORPHA:915
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit... OMIM:170390
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of the pinna, Aplasia/Hypoplasia of the radius, T... ORPHA:916
Arthrogryposis, Distal, Type 3
Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislocation, High pal... OMIM:114300
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the r... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Short neck, Joint laxity, Midface retrusion, Rhizomelia, Short finger... OMIM:612813
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Narrow chest, Short distal phalanx of finger, High palate, High,... OMIM:218330
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Arthrogryposis multiplex congenita, Scapular winging, Camptodactyly, Flexion contracture, Distal ... OMIM:617468
Acrootoocular Syndrome
Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se... ORPHA:2980
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Long philtrum, Wide anterior fontanel, Narrow chest,... OMIM:207410
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea... ORPHA:411696
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Pectus exca... OMIM:264475
Limited elbow extension, Limited hip extension, Frontal bossing, Generalized joint laxity, Triden... OMIM:100800
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S... OMIM:184250
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares OMIM:613124
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Ivic Syndrome
Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal f... OMIM:147750
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Short neck, Frontal bossing, Elbow dislocation, Midface retrusion, Phal... OMIM:264180
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Midface ret... OMIM:617102
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Short neck, Finger syndactyly, Abnormal form of the... ORPHA:1787
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Pe... ORPHA:457395
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Intrauterine growth retardat... ORPHA:1765
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Polyhydramnios, Narrow mout... ORPHA:96334
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Absent septum pellucidum, Foot oligodactyly, Bilateral cleft lip and pala... OMIM:601357
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Bilateral sensorineural h... OMIM:605282
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Micrognathia, Low-set, p... ORPHA:1388
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Atresia of the extern... OMIM:614900
Vacterl/Vater Association
Anencephaly, Laryngomalacia, Anal atresia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of... ORPHA:887
Distal Monosomy 17Q
Short thorax, Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypop... ORPHA:1597
Distal Trisomy 5Q
Long philtrum, Hypoplasia of the radius, Thin vermilion border, Carious teeth, Narrow mouth, Cran... ORPHA:96097
Achondrogenesis Type 1A
Polyhydramnios, Long philtrum, Short thorax, Hydrops fetalis, Short neck, Narrow chest, Abnormal ... ORPHA:93299
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... ORPHA:250984
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Short neck, Lambdoidal craniosynostosis, Abnormal form of the v... OMIM:312830
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Narrow chest, Pes pl... OMIM:615777
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent ... ORPHA:199306
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum, Premature sternal synostosis OMIM:184800
Shox-Related Short Stature
Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor... ORPHA:314795
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Hydrocephalus ORPHA:2703
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali... ORPHA:93351
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis... ORPHA:2319
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo... OMIM:253000
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Large fontanelles, Fron... ORPHA:2097
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Frontal bossing, Abnormal form of the vertebral bodies, Beaking of vert... ORPHA:40
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Megalencephaly, Short thumb, High palate, Micrognathia, Thoracic scoliosis, Low-set ... OMIM:600325
Achondrogenesis Type 1B
Polyhydramnios, Long philtrum, Short thorax, Macrocephaly, Short neck, Hydrops fetalis, Narrow ch... ORPHA:93298
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Saul-Wilson Syndrome
Talipes equinovarus, Platyspondyly, Short metatarsal, Wide anterior fontanel, Pectus carinatum, P... OMIM:618150
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema... OMIM:274000
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones o... ORPHA:93346
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo... ORPHA:3201
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Narrow chest, Atresia of the external audit... OMIM:601390
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Omodysplasia 1
Anterolateral radial head dislocation, Increased fibular diameter, Short neck, Micrognathia, Limi... OMIM:258315
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Carious teeth, Delayed eruptio... OMIM:265800
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Joint laxity, Pes p... ORPHA:439822
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Premature closure of fontanelles, Abnormality of the mouth, Genu recurvatum, Thoracic hypoplasia,... ORPHA:221054
Schneckenbecken Dysplasia
Anterior rib cupping, Polyhydramnios, Lateral clavicle hook, Advanced tarsal ossification, Metaph... OMIM:269250
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Frontal bossing, Midface retrusion, Broad metatarsal, Broad hal... ORPHA:1540
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Pierre-Robin sequence, Conductive hearing impairment, Pectus excavatum,... OMIM:108300
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Exaggerated cupid's ... ORPHA:364577
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Larsen-Like Syndrome
Wide anterior fontanel, Joint laxity, Frontal bossing, Radial deviation of the 4th finger, Conduc... OMIM:608545
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short ... ORPHA:63446
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Large earlobe, Absent tragus, Overfolded... ORPHA:79113
Cohen Syndrome
Joint hypermobility, Short metatarsal, Open mouth, Pes planus, High, narrow palate, Micrognathia,... OMIM:216550
Smith-Magenis Syndrome
Scoliosis, Broad palm, Abnormality of the forearm, Pes planus, Mandibular prognathia, Morphologic... OMIM:182290
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Craniosynostosis, Overlapping toe, Microcephaly, Thick vermilion border, Short met... OMIM:616723
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert... OMIM:253010
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Hypodysplasia of the corpus callosum, Short neck, Oligohydramnios, Midface retrusi... OMIM:257300
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Midfa... OMIM:601812
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Pes planus, Flat acetabular roof, Sensorineural hearing impairment, Narrow greater sci... OMIM:609616
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Narrow chest, Mandibular prognathia, Short ... ORPHA:1327
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Broad nasal tip, Wide nasal bridge, Congenital diaphragmatic hernia OMIM:615524
Huntington Disease
Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Downturned corners of mouth, Narrow chest, Atresia of the external audit... OMIM:615546
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Abnormal form of the vertebral bodies, Con... ORPHA:93262
Alagille Syndrome
Short philtrum, Frontal bossing, Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia ... ORPHA:52
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Limited shoulder movement, M... OMIM:134780
Keutel Syndrome
Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Calc... ORPHA:85202
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Trichorhinophalangeal Syndrome Type 2
Hip dysplasia, Genu valgum, Long philtrum, Talipes, Conductive hearing impairment, Low-set, poste... ORPHA:502
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypo... OMIM:617866
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Oculogyric crisis, Limb hype... ORPHA:238455
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Hyperco... OMIM:184255
Cono-Spondylar Dysplasia
Scoliosis, Polyhydramnios, Midface retrusion, Kyphosis, Short humerus, Short 4th toe, Low-set ear... ORPHA:420794
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Pes planus, Campto... OMIM:182212
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Abnormal thorax mo... OMIM:605274
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Abnormality of the ribs, High palate, Short neck, Micrognathia, Rhizome... OMIM:611209
Kniest Dysplasia
Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Coronal cleft vertebrae... OMIM:156550
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Rhyns Syndrome
Radial bowing, Conductive hearing impairment, Thickened calvaria, Pituitary hypothyroidism, Short... OMIM:602152
Non-Distal Trisomy 10Q
Scoliosis, Frontal bossing, Low-set, posteriorly rotated ears, Everted lower lip vermilion, Pectu... ORPHA:1695
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Short stepped shuffling gait, Shuffling gait ORPHA:412066
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Micrognathia, Prominent metopic r... OMIM:275595
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Cerebellar hypoplasia, Macrodontia of permanent maxillary central incisor... OMIM:616202
Pallister-Hall-Like Syndrome
Short nose, Microglossia, Pulmonary hypoplasia, Cleft palate, Hydrocephalus, Depressed nasal bridge OMIM:241800
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Abnormality of the metacarpal bones, Joint stiffne... ORPHA:2496
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal sputum, Dysphagia, Abnormal pleura morphology, Abnormal eso... ORPHA:2357
Martsolf Syndrome 1
Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Broad fingertip, High p... OMIM:212720
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Chops Syndrome
Short nose, Gastroesophageal reflux, Laryngomalacia, Aspiration pneumonia, Tracheal stenosis OMIM:616368
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750