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
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... ORPHA:166016
Atelosteogenesis, Type Iii
Cleft palate, Horizontal sacrum, Tombstone-shaped proximal phalanges, Short neck, Rhizomelia, Hyp... OMIM:108721
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizome... OMIM:601560
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Dumbbell-shaped l... OMIM:228520
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... OMIM:108720
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Tracheobronchmegaly, Bronchitis, Tracheal stenosis, Pneumo... ORPHA:3347
Multiple Epiphyseal Dysplasia Type 4
High palate, Abnormal pinna morphology, Short metacarpal, Cleft palate, Arthralgia of the hip, Ab... ORPHA:93307
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hi... OMIM:304120
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... OMIM:224300
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Midface retrusion, Elbow dislocation, Anterior vertebral fusion, Microtia,... OMIM:171480
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Tracheobronchopathia Osteochondroplastica
Abnormal tracheobronchial morphology, Calcification of cartilage, Bronchitis, Tracheal stenosis, ... ORPHA:3348
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... OMIM:227270
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Ab... OMIM:164900
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radia... ORPHA:1972
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Irregular vertebral endplates, Flexion contracture, Micrognathia, Osteopenia, Short ... OMIM:222765
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Platyspondyly, Short neck, Intrauterine growth retardation, Thoracic hy... OMIM:616897
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Microgna... OMIM:201170
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Abnormal pinna morphology, Cleft... OMIM:210600
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Vertebral segmentation def... ORPHA:1988
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
3M Syndrome
Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... ORPHA:2616
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Kyphomelic Dysplasia
Cleft palate, Femoral bowing, Platyspondyly, Micromelia, Pterygium, Dumbbell-shaped humerus, Thor... OMIM:211350
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Decreased calvarial ossification, Osteopenia, Platyspondyly, Barrel-shaped chest,... OMIM:610915
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Microcephaly-Micromelia Syndrome
Cleft palate, Craniosynostosis, Short neck, Micromelia, Simplified gyral pattern, Intrauterine gr... OMIM:251230
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Pectus excavatum, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Hypoplasia of t... OMIM:268310
Acrodysostosis
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... ORPHA:950
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... ORPHA:56304
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... OMIM:311450
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:168100
Eiken Syndrome
Short philtrum, Broad ribs, Multiple unerupted teeth, Midface retrusion, Thick lower lip vermilio... OMIM:600002
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Platyspondyly, Micromelia, Sh... OMIM:256050
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... ORPHA:3035
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Vertebral wedging, Short ribs, Dolichocephaly, Micrognathia, D... OMIM:617866
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal ga... OMIM:619636
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau... OMIM:210720
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... OMIM:271700
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... ORPHA:93316
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Campomelic Dysplasia
High palate, Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Shor... OMIM:114290
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Uppe... ORPHA:94068
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Single transverse palmar crease, Sandal gap, Cleft upper lip, Talipes ... OMIM:206920
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Lower limb hypertonia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Ba... ORPHA:100984
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Bilateral conductiv... OMIM:186500
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Dyggve-Melchior-Clausen Syndrome, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... OMIM:304950
Schneckenbecken Dysplasia
Macrocephaly, Cleft palate, Short neck, Micromelia, Abnormal metaphysis morphology, Dumbbell-shap... ORPHA:3144
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... ORPHA:2563
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Platyspondyly, Abnormality of fibula morphology, Rhizomelia, ... ORPHA:1190
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Sensorineural hearing impairment, Cleft palate, Short femur, Glossoptosis, Microgna... ORPHA:440354
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microd... OMIM:258850
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Postural tremor ORPHA:210571
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... ORPHA:3258
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... OMIM:619135
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia ORPHA:2703
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Short neck, 11 pa... ORPHA:140
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pa... OMIM:271640
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl... OMIM:612447
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... OMIM:311900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Microcephaly, Scoliosis, Pectus car... ORPHA:3268
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... OMIM:601561
W Syndrome
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... ORPHA:2804
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Mid... OMIM:618019
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Conductive hearing impairment, Talipes equinov... OMIM:602471
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... ORPHA:2879
Mohr Syndrome
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... OMIM:252100
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Intrauterine growth retardation, Talipes equino... ORPHA:1788
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Osteopathia Striata With Cranial Sclerosis
High palate, Pectus excavatum, Macrocephaly, Cleft palate, Overfolded helix, Broad ribs, Delayed ... OMIM:300373
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Cleft palate, Decreased calvarial ossification, Short neck, Long thora... OMIM:617925
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... OMIM:607143
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Short neck, Wafer-thin platyspondyly, Hypoplasia of the corpus callosum... OMIM:602613
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:600116
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... OMIM:156510
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Malar flattening, Everted lower lip vermilion, Microtia, Micrognathia, Long philtrum, Hypoplasia ... ORPHA:357175
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Pectus excavatum, Horizontal sacrum, Pectus carinatum, Twelfth rib hypoplasia, Midfa... OMIM:211910
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Bilateral lung agenesis OMIM:601612
Intellectual Developmental Disorder, Autosomal Recessive 35
Malar flattening, Everted lower lip vermilion, Microtia, Micrognathia, Long philtrum, Downturned ... OMIM:615162
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Hypoplasia of the maxilla,... ORPHA:1106
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Cleft palate, Patellar dislocation, Clinodactyly of the 5th finge... ORPHA:3320
Renal Dysplasia-Limb Defects Syndrome
High palate, Aplasia of the ulna, Narrow mouth, Abnormal pinna morphology, Short sternum, Talipes... OMIM:266910
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... OMIM:618363
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Turnpenny-Fry Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Tapered ... OMIM:618371
Cleidocranial Dysplasia
Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio... ORPHA:1452
Van Bogaert-Hozay Syndrome
Abnormal pinna morphology, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges o... OMIM:277150
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Scoliosis, Short femoral neck, Biconcave vertebral bo... OMIM:610319
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... OMIM:164745
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosi... ORPHA:2790
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Shor... OMIM:609945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... OMIM:613091
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Diastrophic Dysplasia
Abnormal clavicle morphology, Macrocephaly, Cleft palate, Overfolded helix, Cerebral calcificatio... ORPHA:628
Acrorenal-Mandibular Syndrome
High palate, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna,... OMIM:200980
Ulnar/Fibular Ray Defect And Brachydactyly
Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Frontal bossing, Postaxial oligod... OMIM:608571
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Platyspondyly, Short neck, Anisospondyly, Hemiatrophy ... ORPHA:163649
Autosomal Dominant Omodysplasia
Malar flattening, Micrognathia, Short 1st metacarpal, Short humerus, Long philtrum, Frontal bossi... ORPHA:93328
Orofaciodigital Syndrome Type 10
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly... ORPHA:2756
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... ORPHA:2631
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Macrocephaly, Short neck, Long phil... OMIM:157980
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Femoral bowing, ... OMIM:600920
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... OMIM:300602
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... ORPHA:93267
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth re... ORPHA:1505
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Greenberg Dysplasia
Narrow chest, Calvarial skull defect, Anterior rib punctate calcifications, Abnormal bone ossific... ORPHA:1426
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Protruding ear, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges... ORPHA:2256
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspondyly, Micromelia, Dela... OMIM:184260
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Thanatophoric Dysplasia Type 1
Macrocephaly, Femoral bowing, Platyspondyly, Micromelia, Bowing of the long bones, Abnormal metap... ORPHA:1860
Schneckenbecken Dysplasia
Macrocephaly, Cleft palate, Platyspondyly, Nonimmune hydrops fetalis, Short neck, Ovoid vertebral... OMIM:269250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Cousin Syndrome
Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Clinoda... OMIM:260660
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Cleft palate, Malar flattening, Hyp... ORPHA:246
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Kinsship Syndrome
Wide mouth, Osteopenia, Short philtrum, Short neck, Single transverse palmar crease, Primary micr... OMIM:619297
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... OMIM:147891
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... ORPHA:1427
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Periapical tooth abscess, Dolichocephaly, Finger cli... ORPHA:3352
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... ORPHA:2878
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea OMIM:618317
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... OMIM:300431
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scol... ORPHA:1248
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Odontochondrodysplasia
Narrow chest, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Micr... ORPHA:166272
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Hydrocephalus, Cerebellar dysplasia, Ventriculomegaly OMIM:604213
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal pinna morphology, Femoral bowing, Platyspondyly, 11 pairs of ribs, Micromelia, Long foot... OMIM:210710
Marshall-Smith Syndrome
High palate, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip pads, Craniosyn... OMIM:602535
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... OMIM:618418
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Microcephaly, Edema, Rocker bottom foot, Arthrog... OMIM:616570
Langer Mesomelic Dysplasia
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... ORPHA:2632
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Pulmonary hypoplasia ORPHA:3032
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Barrel-shaped chest, Short neck, Delayed eruption of teeth, Microdontia, Hypoplasia ... OMIM:143095
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Cerebrocostomandibular Syndrome
High palate, Rib gap, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs,... OMIM:117650
Dysostosis, Stanescu Type
Pectus excavatum, Cerebral calcification, Abnormality of the dentition, Short neck, Micromelia, C... ORPHA:1798
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Cleft palate, Cerebral calcification, Delayed eruption of teeth, Abnormal metaphysi... ORPHA:2780
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Temple Syndrome
High palate, Recurrent otitis media, Relative macrocephaly, Cleft palate, Flexion contracture, Sm... OMIM:616222
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Pectus excavatum, Cerebral atrophy, Cleft palate, Postaxial... OMIM:258860
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... OMIM:309350
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Hydrocephalus With Associated Malformations
Intestinal malrotation, Hydrocephalus, Pulmonary hypoplasia OMIM:236640
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture, Arthrogrypo... OMIM:616531
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... ORPHA:75508
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Codas Syndrome
Congenital hip dislocation, Delayed eruption of teeth, Crumpled ear, Hypoplasia of the corpus cal... OMIM:600373
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Trichorhinophalangeal Syndrome, Type Iii
Protruding ear, Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalan... OMIM:190351
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Brachyturricephaly, Polymicrogyria, Hypoplas... OMIM:218600
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia OMIM:619052
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Ham... ORPHA:2752
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Midface retrusion,... OMIM:119600
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Postaxial Acrofacial Dysostosis
Cleft upper lip, Conductive hearing impairment, Pectus excavatum, Malar flattening, Cleft palate,... OMIM:263750
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr... OMIM:616583
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Tarp Syndrome
Abnormal antihelix morphology, Pectus excavatum, Short sternum, Cleft palate, Single transverse p... ORPHA:2886
Ulbright-Hodes Syndrome
High palate, Aplasia/Hypoplasia of the ulna, Abnormal pinna morphology, Short sternum, Hypoplasia... ORPHA:3404
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo... OMIM:122470
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Otoonychoperoneal Syndrome
Hip contracture, Abnormality of the ear, Low-set ears, Dolichocephaly, Aplasia/Hypoplasia of the ... OMIM:259780
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Pycnodysostosis
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... ORPHA:763
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morphology... ORPHA:1277
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Prominent sternum, Platyspondyly, Short neck, Hypoplasia of the corpus callosum, Con... OMIM:300232
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... OMIM:274000
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Pectus excavatum, Macrocephaly, Cerebral atrophy, Abnormality of the dentition, Ankl... OMIM:615398
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... ORPHA:1801
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Abnormal pinna morphology, Talipes equinovarus, Sle... ORPHA:916
Atelosteogenesis Type Iii
High palate, Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation,... ORPHA:56305
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Wide anterior fontanel, K... ORPHA:3098
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Abnormal pinna morphology, Prominent sternum, Elbow ankylosis, Hypoplasia of the rad... OMIM:276820
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... ORPHA:949
Lethal Recessive Chondrodysplasia
Narrow chest, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Polyhydramnios, Generaliz... ORPHA:1423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... OMIM:251450
Anauxetic Dysplasia 3
Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala... OMIM:618853
Lethal Kniest-Like Dysplasia
Macrocephaly, Cleft palate, Platyspondyly, Short neck, Abnormal cartilage morphology, Talipes equ... ORPHA:2347
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... ORPHA:2501
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Craniosynostosis, Microcephaly, Oral cleft, Lower limb undergrowth OMIM:218650
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Epiphyseal dysplasia, Cleft palate, Malar flattening, Platyspon... OMIM:184840
Stuve-Wiedemann Syndrome 1
Enlarged joints, Pursed lips, Femoral bowing, Short neck, Carious teeth, Ulnar deviation of finge... OMIM:601559
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... OMIM:612350
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Cleft palate, Bowing of the long bones, Encephalocele, Elbow dislocati... ORPHA:90652
Scarf Syndrome
Short sternum, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the vertebral bodies... ORPHA:3134
Lujan-Fryns Syndrome
High palate, Protruding ear, Pectus excavatum, Macrocephaly, Arachnodactyly, Abnormality of the d... ORPHA:776
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Short distal phalanx of finger, Protruding ear, Clinodactyly of the 5th finger, Supe... ORPHA:77258
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Wide anterior fontanel, Macrocephaly, Coxa valga, Parietal bossing, Malar flattening... ORPHA:85184
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip OMIM:300484
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsal bones, Midfa... OMIM:215150
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Congenital hip dislocation, Down-sloping shoulders, ... OMIM:114300
Pelviscapular Dysplasia
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Macrocephaly, Short femur, Ste... ORPHA:93333
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Craniometadiaphyseal Dysplasia
High palate, Macrocephaly, Osteopenia, Microdontia, Carious teeth, Genu valgum, Broad ribs, Mandi... OMIM:269300
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of the ear, Pectus excavatum, Cone-shaped epiphysis, Abnormality of the pubic bone, M... ORPHA:2511
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Hyp... OMIM:234250
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, Talipes equinova... ORPHA:2839
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Shox-Related Short Stature
High palate, Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum... ORPHA:314795
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Hydrocephalus, Abnormal lung lobation, Tracheal stenosis, Aplasia/Hypoplasia of the... ORPHA:3301
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Cranioectodermal Dysplasia 1
High palate, Pectus excavatum, Microdontia, Single transverse palmar crease, Sagittal craniosynos... OMIM:218330
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait OMIM:128235
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow chest, Wide anterior fontanel, Abnormal pinna morphology, Malar flattening, Flexion contra... OMIM:207410
Greenberg Dysplasia
Macrocephaly, Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platy... OMIM:215140
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Scissor gait... ORPHA:521406
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial o... OMIM:259440
Vacterl/Vater Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Anencepha... ORPHA:887
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Premature loss of teeth, Recurrent fractures, Kyphosis, Macroce... OMIM:239000
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, ... ORPHA:2249
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor... ORPHA:1350
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial d... OMIM:616331
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Long ... ORPHA:93329
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Kniest Dysplasia
Enlarged joints, Pectus excavatum, Cleft palate, Platyspondyly, Short neck, Hypoplastic pelvis, R... OMIM:156550
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal t... ORPHA:1018
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Short sternum, Malar flat... OMIM:222448
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Malar flattening, Cleft palate... ORPHA:1388
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... ORPHA:52056
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Acrootoocular Syndrome
Pectus excavatum, Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Sand... ORPHA:2980
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar ... OMIM:605282
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Achondroplasia
Limited hip extension, Bowing of the legs, Conductive hearing impairment, Lumbar hyperlordosis, M... OMIM:100800
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Low-set ears, Metaphyseal cupping, Malar flattening... ORPHA:85166
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Brachyd... ORPHA:40
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Stickler Syndrome, Type I
Pectus excavatum, Cleft palate, Platyspondyly, Midface retrusion, Joint stiffness, Spondylolisthe... OMIM:108300
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Tented upper... OMIM:601390
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity OMIM:618824
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Low-set ears, Thin ribs, Micrognathia, Short philtrum, Platyspondyly, Cerebellar hypo... ORPHA:163966
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... OMIM:609324
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Absent septum pellucidum, Scoliosis, Amelia, Anterior encephalocele... OMIM:601357
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Microcephaly, Short humerus, Micromelia, Abnormality of the elbow... ORPHA:2491
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia... ORPHA:1787
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Diamond-Blackfan Anemia 11
Cleft palate, Absent thumb, Hypoplasia of the radius, Stenosis of the external auditory canal, Ra... OMIM:614900
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Kyphoscoliosis, ... OMIM:264475
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... ORPHA:3201
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Malar flattening, Small ... ORPHA:85172
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Short philtrum, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Cauda... ORPHA:439822
Mucopolysaccharidosis Type 4
Wide mouth, Macrocephaly, Abnormality of the dentition, Platyspondyly, Short neck, Pectus carinat... ORPHA:582
Chondroectodermal Dysplasia With Night Blindness
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Oti... ORPHA:319195
Juberg-Hayward Syndrome
Abnormality of finger, Dandy-Walker malformation, Hypoplasia of the radius, Microcephaly, Scolios... ORPHA:2319
Kniest-Like Dysplasia, Lethal
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Broad ribs, Dumbb... OMIM:245190
Jackson-Weiss Syndrome
Preaxial foot polydactyly, 2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx... ORPHA:1540
Scarf Syndrome
Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Short neck, Long philtrum, Abnormal... OMIM:312830
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Craniosynostosis, Thin vermilion border, Micrognathia, Hypoplasia of ... ORPHA:96097
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Tracheal stenosis, Intestinal atresia ORPHA:93941
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Talipe... OMIM:200600
Smith-Mccort Dysplasia 1
Prominent sternum, Barrel-shaped chest, Platyspondyly, Genu valgum, Metaphyseal irregularity, Dol... OMIM:607326
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... OMIM:614701
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Tented upper... OMIM:615546
Congenital Diaphragmatic Hernia
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... ORPHA:2140
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Macrocephaly, Multiple rib fractures, Micrognathia, Hydrops fe... ORPHA:93299
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... OMIM:117850
Jawad Syndrome
Postaxial polydactyly, Retrognathia, Single interphalangeal crease of fifth finger, Absent fourth... OMIM:251255
Aminopterin Syndrome Sine Aminopterin
High palate, Macrocephaly, Cleft palate, Umbilical hernia, Intrauterine growth retardation, Micro... OMIM:600325
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Omodysplasia 1
Short neck, Rhizomelia, Umbilical hernia, Anterolateral radial head dislocation, Increased fibula... OMIM:258315
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Achondrogenesis Type 1B
Narrow chest, Macrocephaly, Talipes equinovarus, Micrognathia, Hydrops fetalis, Long philtrum, Mi... ORPHA:93298
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Microdontia, Aplasia/Hypoplasia of the radius, Madelung deformity, Uln... ORPHA:1765
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Open bite, Abnormality of the glenoid fossa, M... ORPHA:2097
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Parkinsonism, Rigidity, Gait disturbance, Somatic sensory dysfunction, Shuffling ga... OMIM:221820
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... OMIM:249600
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft palate, Abnormality of canine, Tented upper lip vermilion, Intrauterine growth retardation,... ORPHA:364577
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic tetraplegia OMIM:615643
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... OMIM:619862
Cohen Syndrome
Thick corpus callosum, Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, ... OMIM:216550
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... OMIM:184250
Huntington Disease
Rigidity, Gait ataxia, Bradykinesia, Chorea OMIM:143100
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... ORPHA:79113
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, M... OMIM:611209
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... OMIM:142900
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Narrow chest, Pectus excavatum, Abnormal femoral nec... ORPHA:63446
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Osteopenia, Brachytur... OMIM:182212
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Hip subluxation, Dysplasia of the femoral head, Abnormality... ORPHA:99642
Mosaic Variegated Aneuploidy Syndrome 1
Brachycephaly, Intrauterine growth retardation, Cerebral hypoplasia, Short sternum, Triangular mo... OMIM:257300
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Relative macrocephaly, Malar flattening, Metaphyseal widening, Barrel-shape... OMIM:612813
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Protruding ear, Clinodactyly of th... ORPHA:52
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Talipes equinovarus, Malar flattening, Micrognathia, Tongue-like lumbar ver... OMIM:264180
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Conductive hearing impairment, Tooth agenesis, Microretrognath... OMIM:616229
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Pectus carinatum,... OMIM:184255
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Protruding ear... ORPHA:502
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Brachydactyly, Scol... OMIM:182290
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Platyspondyly, ... OMIM:615777
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Larsen-Like Syndrome
Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus,... OMIM:608545
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beakin... OMIM:253000
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna OMIM:212780
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Small hand, Microtia, Prominent metopic ridge, Aplasi... ORPHA:1597
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Malar flattening, Abnormal sacrum morphology, Brachydactyly, Abnor... ORPHA:93262
Femoral-Facial Syndrome
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... OMIM:134780
Achondroplasia
Macrocephaly, Rhizomelia, Thoracic hypoplasia, Short long bone, Spinal canal stenosis, Parietal b... ORPHA:15
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Shuffling gait, Short stepped shuffling gait ORPHA:412066
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Pterygium, Encephalocele, Short... ORPHA:1865
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Attached earlobe, Pectus carinatum, Mandibular prognathia, Midface... ORPHA:1327
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the ear, Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatars... ORPHA:457395
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Tripha... OMIM:604757
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Sensorineural hearing impairment, Cleft pala... ORPHA:250984
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormality of the... OMIM:601163
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Kyphosis, Short humerus... ORPHA:420794
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis OMIM:261640
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, ... OMIM:253010
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Abnormal rib cage mor... OMIM:608154
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad phalanx, Micrognathia, Prominent metopic ridge, Broad metatarsal, Brachycephaly, Trigonocep... OMIM:275595
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:605909
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Sensorineural hearing impairment, Narrow mouth, Conductive hearing impairment, Micro... ORPHA:1307
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Tooth agenesis, Hip dysplasia, Irregular epiphyses, Flattened epiphysis, Ge... OMIM:600204
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Thin vermilion border, Thin calvarium, Micrognathia, Osteopenia... OMIM:601812
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Brachycephaly, Cleft palate, Craniosynostosis, Malar flattening, M... ORPHA:2145
Non-Distal Trisomy 10Q
High palate, Pectus excavatum, Everted lower lip vermilion, Micrognathia, Microcephaly, Scoliosis... ORPHA:1695
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Platyspondyly, Pectus carinatum, Pachygyria, Short long bone, Short ribs, Hydrops f... OMIM:263520
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy... OMIM:215045
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Micromelia, Abnormality of the ankles, Abnormality of the humeru... ORPHA:2496
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Kyphosis, ... OMIM:259420
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
Anauxetic Dysplasia 1
Barrel-shaped chest, Platyspondyly, Short neck, Microdontia, Rhizomelia, Small epiphyses, Cervica... OMIM:607095
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Microtia, Microgna... ORPHA:1352
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural tre... ORPHA:101150
Martsolf Syndrome 1
High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... OMIM:212720
Achondrogenesis Type 2
Narrow chest, Delayed pubic bone ossification, Abnormal bone ossification, Unossified sacrum, Del... ORPHA:93296
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... ORPHA:248111
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Microgna... ORPHA:576283
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... OMIM:601492
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Overfolded helix, Congenital hip dislocation, Micromelia, Platyspondyly... OMIM:255800
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Mi... OMIM:258865
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxil... ORPHA:2776
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Hip contracture, Large earlobe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, ... OMIM:616809
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Macroglossia, Coxa valga, F... OMIM:617396
Orofaciodigital Syndrome X
Hand oligodactyly, Cleft palate, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Prea... OMIM:165590
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Short 1st metacarpal, Short neck, Metopic suture patent to nasal root, Hypoplasia ... OMIM:269150
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism OMIM:617384
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Craniofacial hyperostosis, Macrocephaly, Stenosis of the external ... ORPHA:1513
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthro... OMIM:617468
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... ORPHA:90653
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia, Pectus carinatum, Ge... OMIM:224690
Fryns Macrocephaly