Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GLI-Kruppel family member GLI2
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
phenotypes
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, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Atelosteogenesis, Type Iii
Radial bowing, Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, Cervical segment... OMIM:108721
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal calcification, Calcification of... ORPHA:3348
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Fibrochondrogenesis 1
Thin ribs, Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... OMIM:228520
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... ORPHA:3347
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia... OMIM:108720
Multiple Epiphyseal Dysplasia Type 4
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat... ORPHA:93307
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ... OMIM:224300
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Achondroplasia
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Mega... OMIM:100800
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Retrognathia, Microgna... OMIM:227270
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Art... ORPHA:1856
Omodysplasia 2
Limited elbow flexion, Recurrent otitis media, Micrognathia, Dislocated radial head, Hypoplastic ... OMIM:164745
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... OMIM:151210
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Acrofacial Dysostosis Syndrome Of Rodriguez
Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, 11 pairs of ribs, Overlapp... OMIM:201170
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Sandal gap, Short tibia, Short thumb, Radial c... ORPHA:1972
Seckel Syndrome 1
Ivory epiphyses, Low-set ears, Micrognathia, Talipes, Pes planus, Dislocated radial head, High pa... OMIM:210600
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Scapulo... OMIM:602471
Acrodysostosis
Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo... ORPHA:950
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Kyphomelic Dysplasia
Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant... OMIM:211350
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microgn... ORPHA:1988
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Marshall Syndrome
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... OMIM:154780
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Cerebral calcification, M... ORPHA:3035
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Ankle clonus, Rigidity, Babinski sign,... ORPHA:100984
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Acromesomelic Dysplasia 4
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo... OMIM:619636
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Pyle Disease
Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of... OMIM:265900
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Radial bowing, Preaxial polydactyly, Intestinal malrotation, ... OMIM:617866
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Bell-shap... ORPHA:56304
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Spondyloepiphyseal Dysplasia Congenita
Hearing impairment, Dysplasia of the femoral head, Micrognathia, Genu valgum, Barrel-shaped chest... ORPHA:94068
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Microcephaly-Micromelia Syndrome
Low-set ears, Short tibia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Narrow mouth,... OMIM:251230
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Sensorineural hearing impairmen... OMIM:271700
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Microphthalmia With Limb Anomalies
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 t... OMIM:206920
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Saul-Wilson Syndrome
Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai... OMIM:618150
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short... OMIM:268305
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Schneckenbecken Dysplasia
Hypoplastic scapulae, Short neck, Diaphyseal undertubulation, Hypoplastic ilia, Lymphedema, Fibul... ORPHA:3144
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ... OMIM:186500
Dystonia 16
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait, Bradykinesia ORPHA:210571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... OMIM:222765
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Bilateral lung agenesis OMIM:601612
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphys... OMIM:619135
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus ORPHA:2703
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... ORPHA:2804
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Kyphosis, Microdontia, Short sternum, Post... OMIM:258850
Campomelic Dysplasia
Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Sh... ORPHA:140
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Hypoplasia of the corpus c... OMIM:618371
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Sensori... ORPHA:440354
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, ... OMIM:616300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... OMIM:612447
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... OMIM:252100
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasi... OMIM:212780
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, S... ORPHA:1106
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... OMIM:619598
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, A... OMIM:617925
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Microcephaly, Radioulnar synos... ORPHA:3268
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi... OMIM:128230
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... OMIM:300373
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Atelosteogenesis Type I
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Joint dislocation, Thoracic hypoplasia, Ab... ORPHA:1190
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... OMIM:311900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Talipes equino... OMIM:271640
Osteogenesis Imperfecta, Type X
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bone... OMIM:613848
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hearing impairment, Hypoplastic iliac win... OMIM:609945
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, De... ORPHA:1452
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic h... OMIM:613091
Otopalatodigital Syndrome, Type Ii
Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers... OMIM:304120
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... OMIM:200980
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Flat occiput, Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upp... ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Flat occiput, Clinodactyly, Long philtrum, Downturned corners of mouth, Micrognathi... OMIM:615162
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... OMIM:157980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Van Bogaert-Hozay Syndrome
Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal pinna ... OMIM:277150
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... OMIM:620076
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Parkinsonism, Abno... OMIM:615528
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Cousin Syndrome
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... OMIM:260660
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Low-set,... ORPHA:2631
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Cleft soft palate, Genu valgum, Metaphyseal dysplasia, A... ORPHA:93316
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi... ORPHA:101110
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Pulmonary hypoplasia ORPHA:3032
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... OMIM:616716
Clark-Baraitser syndrome
Genu recurvatum, Scoliosis, Exaggerated median tongue furrow, Thick lower lip vermilion, Frontal ... OMIM:300602
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin... ORPHA:93328
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Frontal bossing, Aplasia of the proximal phalanges of the hand, Micrognathia, ... ORPHA:2256
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Cleidocranial Dysplasia 2
Aplastic clavicle, Short distal phalanx of finger, Broad thumb, Hypoplasia of the maxilla, Hearin... OMIM:620099
Greenberg Dysplasia
Platyspondyly, Narrow chest, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Abnormal ... ORPHA:1426
Postaxial Acrofacial Dysostosis
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... ORPHA:246
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Downturned c... ORPHA:93267
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cerebrocostomandibular Syndrome
Low-set ears, Carious teeth, Cleft soft palate, Bell-shaped thorax, Micrognathia, Short hard pala... OMIM:117650
Thanatophoric Dysplasia Type 1
Hearing impairment, Bowing of the long bones, Short greater sciatic notch, Cloverleaf skull, Hypo... ORPHA:1860
Kinsship Syndrome
Low-set ears, Ankyloglossia, Micrognathia, Short neck, Pes planus, Dislocated radial head, Hip di... OMIM:619297
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... ORPHA:166272
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cerebral calcification, Mi... ORPHA:628
Marshall-Smith Syndrome
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... OMIM:602535
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal... OMIM:613849
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Gait disturbance, Bradykin... OMIM:618418
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost... OMIM:147891
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single transverse palmar creases, B... OMIM:143095
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Ventriculomegaly, Hydrocephalus OMIM:604213
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Delayed cranial suture closure, Bilateral single transverse palmar creases, Abnormal metacarpal m... ORPHA:2511
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Rhizomelia, Pectus carinatum, Osteopenia, Vertebral wedging, Hearing i... OMIM:301014
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Orofaciodigital Syndrome Iv
Low-set ears, Toe syndactyly, Lobulated tongue, Cerebral atrophy, Short tibia, Hamartoma of tongu... OMIM:258860
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Sensorineural hearing impairment, Short neck, Dislocated radial head,... OMIM:122470
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ... OMIM:309350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Long philtrum, Ectrodactyly, R... ORPHA:2878
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Gait disturbance... OMIM:213600
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Codas Syndrome
Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Hypoplasia of the corpus callosum,... OMIM:600373
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Orofaciodigital Syndrome Type 3
Low-set ears, Cerebellar vermis hypoplasia, Bifid uvula, Abnormality of the dentition, Postaxial ... ORPHA:2752
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula, Arthrogryposis mult... OMIM:616531
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr... OMIM:218600
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Conical tooth, Cupped ear, Short thumb, Cleft upper lip... OMIM:263750
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radi... OMIM:614078
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Dysostosis, Stanescu Type
Carious teeth, Cerebral calcification, Bowing of the long bones, Short neck, Increased bone miner... ORPHA:1798
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Retrognathia, Secondary microcephaly, Intrauterine growth retardation, Thick vermil... OMIM:620113
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... ORPHA:2886
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Ta... ORPHA:3404
Dandy-Walker Syndrome
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flatte... OMIM:618363
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hea... OMIM:616331
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Joint contracture of the hand, Clinodactyly, Micrognathia, Arachnodactyly, High pal... OMIM:600325
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Otoonychoperoneal Syndrome
Low-set ears, Ankle flexion contracture, Hip contracture, Knee flexion contracture, Posteriorly r... OMIM:259780
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... OMIM:276820
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal raref... OMIM:601559
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Broad thumb, Short 5th toe, Prominent fingerti... OMIM:613684
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology... ORPHA:3098
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... ORPHA:763
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... ORPHA:1423
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Pectus carinatum, Cone-shaped epiphysis, Short distal phalanx of fi... ORPHA:77258
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... ORPHA:90652
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis OMIM:619052
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Low-set ears, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Absent s... OMIM:601357
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So... OMIM:602418
Shox-Related Short Stature
Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb undergrowth, ... ORPHA:314795
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradykinesia, Slu... OMIM:618317
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia OMIM:615524
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/H... ORPHA:776
Arthrogryposis, Distal, Type 12
Low-set ears, Ankle flexion contracture, Absent distal interphalangeal creases, Spinal rigidity, ... OMIM:620545
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Narrow chest, Squared iliac bones, Metaphyseal cup... OMIM:618853
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Tracheal stenosis, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Anal a... ORPHA:3301
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, F... OMIM:617194
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Abnormality of the dentition, Low-set ears, Osteopenia, Downturned c... OMIM:615398
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala... OMIM:612350
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Lethal Kniest-Like Dysplasia
Low-set ears, Broad long bones, Talipes equinovarus, Short neck, Anterior rib cupping, Hypoplasti... ORPHA:2347
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol... ORPHA:2839
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Larsen-Like Syndrome
Low-set ears, Dental malocclusion, Joint dislocation, Conductive hearing impairment, Recurrent ot... OMIM:608545
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Short ribs, Thin upper l... OMIM:607143
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:240103
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Umbilical hernia, Low-set... ORPHA:3134
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Esopha... ORPHA:1018
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy dist... ORPHA:1248
Cranioectodermal Dysplasia 1
Low-set ears, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip v... OMIM:218330
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Non-Distal Duplication 10Q
Frontal bossing, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobility, Microcepha... ORPHA:1695
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Edema, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, ... OMIM:616570
Vacterl/Vater Association
Occipital encephalocele, Tracheal stenosis, Congenital diaphragmatic hernia, Anal atresia, Trache... ORPHA:887
Achondrogenesis, Type Ii
Microretrognathia, Edema, Long philtrum, Broad long bones, Abnormal foot morphology, Hypoplastic ... OMIM:200610
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Reduced bo... ORPHA:2501
Pelviscapular Dysplasia
Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ... ORPHA:93333
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Positive Romb... OMIM:607136
Ivic Syndrome
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... OMIM:147750
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Delayed cranial suture closure, Cerebral calcification, Micrognathia, Flat occiput,... ORPHA:2780
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro... OMIM:119600
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ... OMIM:259440
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Lower limb undergrowth, Microcephaly, Orofacial cleft, Craniosynostosis, Forearm undergrowth OMIM:218650
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly OMIM:300484
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Pes pla... OMIM:620663
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia OMIM:618824
Craniometadiaphyseal Dysplasia
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum... OMIM:269300
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Pectus carinatum, Downturned corners of mou... ORPHA:1327
Hall-Riggs Syndrome
Platyspondyly, Kyphosis, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia o... OMIM:234250
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Everted lower lip ver... ORPHA:915
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat... ORPHA:1388
Congenital Diaphragmatic Hernia
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pul... ORPHA:2140
Autosomal Recessive Omodysplasia
Low-set ears, Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Frontal bossin... ORPHA:93329
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Micromelia, C... ORPHA:2635
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Acrootoocular Syndrome
Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Micrognathia, ... ORPHA:2980
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Frontal bossing, Joint stiffn... ORPHA:40
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... OMIM:190351
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... OMIM:200600
Jawad Syndrome
Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Absent fourth finger dist... OMIM:251255
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hearing impairment, Increased bone mineral density, Recurrent fractures, Barrel-shape... OMIM:239000
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... ORPHA:411696
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... ORPHA:2097
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Immunodeficiency 12
Recurrent lower respiratory tract infections, Bronchiectasis, Esophageal stricture OMIM:615468
Catel-Manzke Syndrome
Low-set ears, Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Talipes... OMIM:616145
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Narrow chest, Hypoplastic scapulae, Metaphyseal cu... ORPHA:85166
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Fetal ascites, Micromelia, Flared metaphysis, Advanc... OMIM:215045
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna... ORPHA:2491
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:605909
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Bilateral sensorineural he... OMIM:605282
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, High palate, Cleft l... OMIM:619110
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Long phi... OMIM:207410
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert... OMIM:609223
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis, Malar flattening, Sensorineural he... OMIM:184840
Keutel Syndrome
Calcification of cartilage, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Rec... ORPHA:85202
Achondroplasia
Hearing impairment, Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Fu... ORPHA:15
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Cerebral hypoplasia, Long philtrum, Intrauterine growth retardation, Micrognathia, ... OMIM:257300
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... OMIM:156550
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Platyspondyly, Osteopenia, Fractures of the long bones, Equinovarus deformi... ORPHA:319195
Distal Duplication 5Q
Low-set ears, Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Microcephal... ORPHA:96097
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Somatic sensory dysfunction, Rigidity, Apraxia, Parkinsonism, Gait di... OMIM:221820
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Intrauterine ... ORPHA:2319
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Low-set ears, Abnormali... ORPHA:163966
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly... OMIM:182212
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Pierpont Syndrome
Hearing impairment, Excessive wrinkling of palmar skin, Short neck, Pes planus, Everted lower lip... ORPHA:487825
Mucopolysaccharidosis Type 4
Carious teeth, Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus cari... ORPHA:582
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath... OMIM:210710
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Scarf Syndrome
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Low-set ears, Abnormal f... OMIM:312830
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Mietens-Weber Syndrome
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... OMIM:249600
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Torticoll... OMIM:619862
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, In... OMIM:222448
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia OMIM:617384
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Malar flattening, Microcephaly, Ta... ORPHA:85172
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Pulmonary ... OMIM:601163
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec... OMIM:271665
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Intrauterine growth retard... ORPHA:52
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encepha... ORPHA:1865
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Falls, Parkinsonism, Bradykinesia ORPHA:412066
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge... OMIM:253000
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Sh... ORPHA:439822
Muenke Syndrome
Broad thumb, Clinodactyly, Hearing impairment, Recurrent otitis media, Thimble-shaped middle phal... OMIM:602849
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Hearing impairment, Genu valgum, Intervertebral space narrowing, Re... ORPHA:166011
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus cal... OMIM:277170
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cerebral cortical atrophy, Tooth malposition, Ulnar deviation of finger, Low-set, posteriorly rot... ORPHA:1387
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Hearing impairment, Cleft mandible, Everted lower lip vermilion, Pierre-Robin sequence, Abnormali... ORPHA:364577
Achondrogenesis Type 1A
Narrow chest, Micromelia, Long philtrum, Umbilical hernia, Abnormal enchondral ossification, Macr... ORPHA:93299
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Plagiocephaly, Cervical ribs, Intestinal malrotation, Micrognathia, Increased nucha... ORPHA:77300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Large earlobe, Polyhydramnios, Death in ch... OMIM:616809
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr... ORPHA:99642
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morpholog... ORPHA:63446
Craniofrontonasal Dysplasia
Finger syndactyly, Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Sprengel ... ORPHA:1520
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Intrauterine growth retardation, Uln... ORPHA:1765
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Low-set ears, Small hand, Unilateral cleft lip, Finger syndactyly, Abnormal ... ORPHA:1787
Achondrogenesis Type 1B
Narrow chest, Micromelia, Long philtrum, Umbilical hernia, Abnormal rib morphology, Macrocephaly,... ORPHA:93298
Arthrogryposis, Distal, Type 3
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Thor... OMIM:114300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Narrow chest, Carious teeth, Short distal phalanx of finger, ... OMIM:617102
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia ORPHA:71517
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Hypoplasia of the corpus callosum, B... OMIM:300232
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Cupped ear, Anteriorly placed anus, Intrauterine growth retardation, Micrognathia, Hearing abnorm... ORPHA:1352
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... OMIM:608154
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Ma... ORPHA:2145
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Arthrogryposis multiplex congenita, Elbow flexion contracture, Knee fl... OMIM:617468
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Micrognathia, Genu valgum, Ma... ORPHA:250984
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop... ORPHA:1597
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A... OMIM:615777
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, ... OMIM:212720
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Hearing impairment, Condu... OMIM:616229
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypopl... ORPHA:457395
ERI1-related disease
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finge... OMIM:608739
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Abnormal tracheobronchial morph... ORPHA:1790
Juvenile Huntington Disease
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progressive cer... ORPHA:248111
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Sensorineural hearing impairment, B... OMIM:215150
Rhyns Syndrome
Osteopenia, Conductive hearing impairment, Radial bowing, Sensorineural hearing impairment, Thick... OMIM:602152
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Barrel-shaped chest, Hip contracture, Short neck, Short foot, Hypoplast... OMIM:607095
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Schwartz-Jampel Syndrome, Type 1
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... OMIM:255800
Pseudodiastrophic Dysplasia
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Frontal bossing... OMIM:264180
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility OMIM:276821
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Pierpont Syndrome
Hearing impairment, Large fleshy ears, Broad foot, Short neck, Everted lower lip vermilion, Promi... OMIM:602342
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Frontal bossing, Preaxial foot polydactyly, Split foot... ORPHA:1540
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ... OMIM:614900
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ... ORPHA:93262
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Slc35A2-Cdg
Short tibia, Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Cerebral white ... ORPHA:356961
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Joint dislocation, Cerebral calcif... ORPHA:85198
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Hearing impairment, Frontal bo... OMIM:259420
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Agenesis of c... OMIM:134780
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abn... ORPHA:1307
Cornelia De Lange Syndrome 2
Small hand, Downturned corners of mouth, Clinodactyly, Intrauterine growth retardation, Micrognat... OMIM:300590
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Bradykinesia, Spastic tetraplegia OMIM:615643
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u... ORPHA:2496
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Microcephaly, ... OMIM:258865
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... ORPHA:3201
Trichorhinophalangeal Syndrome Type 2
Abnormality of the dentition, Joint dislocation, Conductive hearing impairment, Long philtrum, Lo... ORPHA:502
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Low-set ears, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar h... OMIM:612813
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver... OMIM:610967
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Macrocephaly, Stenosis of the external ... ORPHA:1513
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, O... ORPHA:192
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Sensorineural hearing impairment, Pes planus, Beaking of vertebral bodies... OMIM:609616
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:240085
Pentasomy X
Small hand, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognath... ORPHA:11
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Protruding ear, Microcephaly, T... ORPHA:85279
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Arthrogryposis multiplex... OMIM:616867
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Cerebellar vermis hypoplasia, Pectus carinatum, Polysyndactyly ... OMIM:263520
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Syndactyly... OMIM:614701
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn... OMIM:142900
Endocrine-Cerebroosteodysplasia
Low-set ears, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Micrognathia, Fibular... OMIM:612651
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Narrow chest, Hypoplasia of the maxilla, Long foot, Long palm, Macrocephaly, Pe... OMIM:300676
Meier-Gorlin Syndrome 1
Thin ribs, Low-set ears, Small hand, Joint contracture of the hand, Elbow dislocation, Hearing im... OMIM:224690
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Dysphag... ORPHA:142
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Cervical spine instability, Intrauterine growth retardatio... OMIM:617396
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Caribbean Parkinsonism