Gene: Gli2 MGI:95728

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Gli2 (10 diseases)
Human diseases predicted to be associated with Gli2 (2461 diseases)

The table below shows human diseases associated to Gli2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Holoprosencephaly 9	Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxillary central in...	OMIM:610829
Septopreoptic Holoprosencephaly	Abnormality of the septum pellucidum, Perisylvian polymicrogyria, Abnormal vertebral morphology, ...	ORPHA:280195
Semilobar Holoprosencephaly	Scoliosis, Panhypopituitarism, Macrocephaly, Flexion contracture, Abnormal hypothalamus physiolog...	ORPHA:220386
Alobar Holoprosencephaly	Scoliosis, Panhypopituitarism, Macrocephaly, Flexion contracture, Abnormal hypothalamus physiolog...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Scoliosis, Panhypopituitarism, Macrocephaly, Flexion contracture, Abnormal hypothalamus physiolog...	ORPHA:93926
Lobar Holoprosencephaly	Scoliosis, Panhypopituitarism, Macrocephaly, Flexion contracture, Abnormal hypothalamus physiolog...	ORPHA:93924
Holoprosencephaly	Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the antihelix, Branchial anomaly,...	ORPHA:2162
Culler-Jones Syndrome	Midface retrusion, Postaxial polydactyly, Ectopic posterior pituitary, Anterior pituitary hypopla...	OMIM:615849
Microform Holoprosencephaly	Scoliosis, Panhypopituitarism, Short philtrum, Tented upper lip vermilion, Oral cleft, Solitary m...	ORPHA:280200
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Holoprosencephaly, Abnormal digit morphology	ORPHA:95494

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

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Tented Eyebrows	Abnormal hair morphology	OMIM:611426
Cerebellar Degeneration-Related Autoantigen 3	Abnormal cerebellum morphology	OMIM:602197
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Atelosteogenesis, Type Iii	Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac...	OMIM:108721
Multiple Epiphyseal Dysplasia With Robin Phenotype	Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi...	OMIM:601560
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 3	Sparse scalp hair	OMIM:613981
Fibrochondrogenesis 1	Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, S...	OMIM:228520
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus, Cerebellar agenesis	OMIM:307010
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Atelosteogenesis, Type I	Polyhydramnios, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multin...	OMIM:108720
Mounier-Kühn Syndrome	Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg...	ORPHA:3347
Multiple Epiphyseal Dysplasia Type 4	Scoliosis, Short metatarsal, Bilateral external ear deformity, Ulnar deviation of the hand, Aceta...	ORPHA:93307
Acrocapitofemoral Dysplasia	Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge...	OMIM:607778
Otopalatodigital Syndrome, Type Ii	Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th...	OMIM:304120
Tracheobronchopathia Osteochondroplastica	Esophagitis, Abnormal sputum, Tracheal calcification, Calcification of cartilage, Pneumonia, Atel...	ORPHA:3348
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Leri-Weill Dyschondrosteosis	Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone...	OMIM:127300
Alopecia Areata 2	Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis	OMIM:610753
Dysosteosclerosis	Oligodontia, Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased sus...	OMIM:224300
Alopecia-Mental Retardation Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Mental Retardation Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Mental Retardation Syndrome 1	Alopecia universalis	OMIM:203650
Occipital Hair, White Lock Of	White hair, Abnormal hair morphology	OMIM:310900
Alopecia Totalis	Alopecia of scalp, Alopecia	ORPHA:700
Alopecia Universalis Congenita	Alopecia universalis, Alopecia	OMIM:203655
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Rhizomelic Chondrodysplasia Punctata, Type 2	Scoliosis, Large fontanelles, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flex...	OMIM:222765
Brachydactyly, Type C	Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd...	OMIM:113100
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Split hand, Shoulder dislocation, Absent radius, Stenosis of the external audi...	OMIM:171480
Hypotrichosis 13	Woolly hair, Sparse and thin eyebrow, Sparse hair	OMIM:615896
Parkinsonism With Spasticity, X-Linked	Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity	OMIM:300911
Paralysis Agitans, Juvenile, Of Hunt	Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity	OMIM:168100
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Faciocardiomelic Dysplasia, Lethal	Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ...	OMIM:227270
Syndactyly Type 2	Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-...	ORPHA:93403
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra...	OMIM:616897
Hypotrichosis 1	Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey...	OMIM:605389
Multiple Epiphyseal Dysplasia, Lowry Type	Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Cleft palate, ...	ORPHA:166016
Seckel Syndrome 1	Enamel hypoplasia, Scoliosis, Dental crowding, Pes planus, Small anterior fontanelle, Sandal gap,...	OMIM:210600
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ...	OMIM:601376
Acrofacial Dysostosis Syndrome Of Rodriguez	Triphalangeal thumb, Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Narrow mouth,...	OMIM:201170
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab...	ORPHA:1856
Langer Mesomelic Dysplasia	Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th...	OMIM:249700
Ulnar Hemimelia	Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Limited shoulder movement, Duplica...	ORPHA:93320
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Femoral-Facial Syndrome	Scoliosis, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, Abnormality of p...	ORPHA:1988
Lethal Faciocardiomelic Dysplasia	Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul...	ORPHA:1972
Parkinson Disease 15, Autosomal Recessive Early-Onset	Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of...	OMIM:260300
Hypotrichosis 4	Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes	OMIM:146550
Microcephaly-Micromelia Syndrome	Craniosynostosis, Narrow mouth, Narrow chest, Forearm undergrowth, Absent radius, Abnormality of ...	OMIM:251230
Ophthalmomandibulomelic Dysplasia	Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum...	OMIM:164900
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Midfac...	OMIM:118651
Campomelic Dysplasia	Polyhydramnios, Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hypoplastic cer...	OMIM:114290
3M Syndrome	Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Enlarged thorax, Abnorm...	ORPHA:2616
Marshall Syndrome	Wide tufts of distal phalanges, Sensorineural hearing impairment, Meningeal calcification, Irregu...	OMIM:154780
Dystonia 16	Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,...	ORPHA:210571
Pyle Disease	Scoliosis, Limited elbow extension, Genu valgum, Delayed eruption of teeth, Carious teeth, Platys...	OMIM:265900
Metaphyseal Acroscyphodysplasia	Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ...	OMIM:250215
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Kyphomelic Dysplasia	Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral...	OMIM:211350
Multiple Synostoses Syndrome 1	Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs...	OMIM:186500
Atelosteogenesis, Type Ii	Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet...	OMIM:256050
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Hypotrichosis Simplex	Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela...	ORPHA:55654
Acrodysostosis	Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality...	ORPHA:950
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Dystonia, Dopa-Responsive	Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa...	OMIM:128230
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Chondrodysplasia, Grebe Type	Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still...	OMIM:200700
Pseudopili Annulati	Abnormality of the scalp hair, Abnormality of hair texture	OMIM:613241
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication	OMIM:613643
Pallister W Syndrome	Radial bowing, Cubitus valgus, Agenesis of central incisor, Frontal bossing, Pes planus, Camptoda...	OMIM:311450
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Narrow iliac wing, Joint contr...	OMIM:601668
Spondyloperipheral Dysplasia	Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi...	OMIM:271700
Atelosteogenesis Type Ii	Polyhydramnios, Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Campt...	ORPHA:56304
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Bowing of the long bones, Intestinal malrotation, Tibial bowing, Intrauterine grow...	ORPHA:3035
Acro-Renal-Mandibular Syndrome	Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ...	ORPHA:958
Parkinson Disease 2, Autosomal Recessive Juvenile	Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity	OMIM:600116
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia	ORPHA:3346
Hypotrichosis 5	Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes	OMIM:612841
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Enamel hypoplasia, Narrow chest, Short distal phalanx of finger, Ulnar bowing, Thin clavicles, Na...	OMIM:210720
Parkinson Disease 19A, Juvenile-Onset	Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ...	OMIM:615528
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Increased head circumference, Flat acetabular roof, Small epiphyses, Short femoral nec...	ORPHA:94068
Eiken Syndrome	Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela...	OMIM:600002
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Limited elbow extension, Platyspondyly, Flared iliac wing, Rhizomelia, Irregular s...	OMIM:602111
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia, Laryngomalacia	ORPHA:93941
Dyssegmental Dysplasia With Glaucoma	Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared me...	OMIM:601561
Microphthalmia With Limb Anomalies	Sandal gap, High palate, Postaxial hand polydactyly, Foot oligodactyly, Low-set ears, Camptodacty...	OMIM:206920
Eiken Syndrome	Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat...	ORPHA:79106
Tarp Syndrome	Large fontanelles, Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Prominent an...	OMIM:311900
Hypotrichosis 10	Sparse body hair, Sparse eyebrow, Sparse eyelashes	OMIM:614238
Autosomal Dominant Striatal Neurodegeneration	Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia	ORPHA:228169
Léri-Weill Dyschondrosteosis	Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc...	ORPHA:240
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t...	OMIM:612447
Schneckenbecken Dysplasia	Polyhydramnios, Narrow chest, Increased fibular diameter, Abnormality of the metaphysis, Short ne...	ORPHA:3144
Dyggve-Melchior-Clausen Syndrome, X-Linked	Hypoplastic sacrum, Distal ulnar hypoplasia, Scoliosis, Carpal bone hypoplasia, Thoracic kyphosis...	OMIM:304950
Atelosteogenesis Type I	Scoliosis, Polyhydramnios, Narrow chest, Abnormality of fibula morphology, Micrognathia, Short fe...	ORPHA:1190
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy	ORPHA:458798
Multiple Osteochondromas	Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Elbow disloca...	ORPHA:321
Hypotrichosis 11	Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th...	OMIM:615059
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Narrow chest, Frontal bossing, Midface retrusion, Rhizomelia, Hypoplastic scapulae, ...	ORPHA:440354
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Tongue nodules, Pectus excavatum, Short sternum, Kyphosis, Low-set ea...	OMIM:258850
Momo Syndrome	Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Short neck, Taurodontia, Fr...	ORPHA:2563
Ritscher-Schinzel Syndrome 3	Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ...	OMIM:619135
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,...	ORPHA:100984
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Robin Sequence With Cleft Mandible And Limb Anomalies	Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys...	OMIM:268305
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu...	ORPHA:3268
W Syndrome	Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar...	ORPHA:2804
Rhizomelic Dysplasia, Patterson-Lowry Type	Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom...	ORPHA:2831
Alopecia Universalis	Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow	ORPHA:701
Cenani-Lenz Syndrome	Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo...	ORPHA:3258
Phocomelia, Schinzel Type	Abnormality of tibia morphology, Hydrops fetalis, Calvarial skull defect, High, narrow palate, Sh...	ORPHA:2879
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Conductive hearing impairment, R...	OMIM:602471
Mohr Syndrome	Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,...	OMIM:252100
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl...	ORPHA:306692
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormality of the ribs, Short philtrum, Platyspondyly, Short neck,...	ORPHA:93267
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow gr...	OMIM:617925
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Hydrocephalus, Autosomal Dominant	Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b...	OMIM:271640
Acromesomelic Dysplasia, Hunter-Thompson Type	Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop...	OMIM:201250
Congenital Disorder Of Glycosylation, Type Ig	Polyhydramnios, Hypoplasia of the radius, Short femur, Short philtrum, Midface retrusion, Rhizome...	OMIM:607143
Osteopathia Striata With Cranial Sclerosis	Scoliosis, Polyhydramnios, Delayed closure of the anterior fontanelle, Large fontanelles, Dental ...	OMIM:300373
Mesomelic Limb Shortening And Bowing	Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia...	OMIM:249710
Fibular Hemimelia	Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J...	ORPHA:93323
Omodysplasia 2	Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Frontal bossing, Limited elbow ...	OMIM:164745
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid...	ORPHA:98762
Campomelic Dysplasia	Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Hypoplasia of olfactory tract, Small...	ORPHA:140
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Long philtrum, Everted lower lip vermilion, Flat occiput, Hypoplasia of the ulna, Thin upper lip ...	ORPHA:357175
Mental Retardation, Autosomal Recessive 35	Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Flat occiput, Hypoplasia...	OMIM:615162
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Polyhydramnios, Death in infancy, Ulnar deviation of the hand, Stenosis of the external auditory ...	OMIM:602613
Amyotrophic Lateral Sclerosis 16, Juvenile	Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later...	OMIM:614373
Corticobasal Syndrome	Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra...	ORPHA:454887
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m...	OMIM:156510
Acrofacial Dysostosis, Rodríguez Type	Radioulnar synostosis, Finger syndactyly, Microretrognathia, Abnormal form of the vertebral bodie...	ORPHA:1788
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Renal Dysplasia-Limb Defects Syndrome	Hypoplasia of the radius, Fibular aplasia, Thin vermilion border, Narrow mouth, Short neck, Oligo...	OMIM:266910
Cleidocranial Dysplasia	Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Narrow che...	ORPHA:1452
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Spondyloepiphyseal Dysplasia, Nishimura Type	Abnormal femoral neck/head morphology, Downturned corners of mouth, Narrow chest, Anterior plagio...	ORPHA:163649
Arthrogryposis, Distal, Type 1C	Pursed lips, Scoliosis, Thin vermilion border, Narrow mouth, Increased nuchal translucency, Wrist...	OMIM:619110
Camptodactyly Syndrome, Guadalajara, Type I	Hypoplastic 5th lumbar vertebrae, Small earlobe, Wormian bones, Short metatarsal, Narrow mouth, D...	OMIM:211910
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma...	ORPHA:93359
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Tracheal atresia	OMIM:601612
Hypermanganesemia With Dystonia 2	Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom...	OMIM:617013
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Scoliosis, Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ...	OMIM:618363
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c...	OMIM:609052
Spinocerebellar Ataxia Type 20	Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar...	ORPHA:101110
Greenberg Dysplasia	Platyspondyly, Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, C...	ORPHA:1426
Marshall-Smith Syndrome	Scoliosis, Prominence of the premaxilla, Overfolded helix, Short distal phalanx of finger, Pectus...	OMIM:602535
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ...	OMIM:616331
Turnpenny-Fry Syndrome	Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, ...	OMIM:618371
Osteogenesis Imperfecta, Type Viii	Scoliosis, Wormian bones, Joint laxity, Multiple prenatal fractures, Type 1 collagen overmodifica...	OMIM:610915
Hydrocephalus With Associated Malformations	Pulmonary hypoplasia, Intestinal malrotation, Hydrocephalus	OMIM:236640
Orofaciodigital Syndrome Type 10	Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad...	ORPHA:2756
Thrombocytopenia-Absent Radius Syndrome	Scoliosis, Broad thumb, Sensorineural hearing impairment, Absent radius, Phocomelia, Micrognathia...	ORPHA:3320
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Narrow chest, Frontal bossing, Pectus carinatum, Pectus excavatum, Long foot, Mandibul...	OMIM:300676
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s...	OMIM:112910
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria	OMIM:618317
Odontochondrodysplasia 1	Scoliosis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death i...	OMIM:184260
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Thin vermilion border, Broad thumb, Tarsal synostosis, Elbow disloc...	ORPHA:1106
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa	Scoliosis, Amelogenesis imperfecta, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomeli...	OMIM:610319
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Tooth malposition, Abnormality of the pinna, Micrognathia, Osteolytic de...	OMIM:277150
Striatal Degeneration, Autosomal Dominant 1	Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia	OMIM:609161
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Eosinophilic Esophagitis	Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno...	ORPHA:73247
Autosomal Dominant Omodysplasia	Long philtrum, Frontal bossing, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humeru...	ORPHA:93328
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi...	ORPHA:2790
Spinocerebellar Ataxia 11	Cerebellar atrophy	OMIM:604432
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Scoliosis, Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, S...	OMIM:613091
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia, Intestinal malrotation	ORPHA:3032
Stuve-Wiedemann Syndrome	Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fr...	OMIM:601559
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Scoliosis, Dislocated radial head, Platyspondyly, Multiple joint dislocation, Joint laxity, Metap...	OMIM:618395
Acrorenal-Mandibular Syndrome	Narrow palate, Narrow chest, Split hand, Hemivertebrae, High palate, Micrognathia, Elbow flexion ...	OMIM:200980
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia	OMIM:619052
Spinocerebellar Ataxia Type 5	Cerebellar atrophy	ORPHA:98766
Odontochondrodysplasia	Scoliosis, Delayed eruption of teeth, Platyspondyly, Narrow chest, Square pelvis bone, Frontal bo...	ORPHA:166272
Alopecia Areata 1	Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia	OMIM:104000
Short Rib-Polydactyly Syndrome	Abnormal ilium morphology, Polyhydramnios, Abnormality of long bone morphology, Narrow chest, Pol...	ORPHA:1505
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity	OMIM:183050
Van Den Ende-Gupta Syndrome	Distal ulnar hypoplasia, Craniosynostosis, Dental crowding, High palate, High, narrow palate, Uln...	OMIM:600920
Parkinson Disease 22, Autosomal Dominant	Gait disturbance, Tremor, Resting tremor, Bradykinesia	OMIM:616710
Clark-Baraitser syndrome	Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Broad palm, Genu recurvatum, Kyphosis, Max...	OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign	OMIM:300423
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios, Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensori...	ORPHA:1427
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Thanatophoric Dysplasia Type 1	Polyhydramnios, Narrow chest, Split hand, Short greater sciatic notch, Increased nuchal transluce...	ORPHA:1860
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Spinocerebellar Ataxia 41	Cerebellar atrophy	OMIM:616410
Momo Syndrome	Long philtrum, Delayed eruption of teeth, Short neck, Taurodontia, Frontal bossing, Long foot, Sh...	OMIM:157980
Pseudoachondroplasia	Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit...	ORPHA:750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Thin vermilion border, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, ...	OMIM:609945
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Conduct...	ORPHA:2878
Diastrophic Dwarfism	Scoliosis, Elbow dislocation, Overfolded helix, Abnormality of the metacarpal bones, Increased bo...	ORPHA:628
Acromesomelic Dysplasia, Maroteaux Type	Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip...	OMIM:602875
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia of the proximal phalanges of the hand, Polyhydramnios, Frontal bossing, Finger syndactyly...	ORPHA:2256
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc...	ORPHA:2631
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Limb dystonia, Babinsk...	OMIM:618824
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ...	OMIM:608940
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins...	ORPHA:521406
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Ulnar/Fibular Ray Defect And Brachydactyly	Toe syndactyly, Frontal bossing, Midface retrusion, Postaxial oligodactyly, Malar flattening, Fib...	OMIM:608571
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe...	OMIM:147891
Parkinson Disease 17	Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity	OMIM:614203
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Attention d...	OMIM:617384
Rhizomelic Chondrodysplasia Punctata, Type 5	Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy...	OMIM:616716
Cousin Syndrome	Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna...	OMIM:260660
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Trismus, Joint stiffness, Kyphoscol...	OMIM:616583
Syndactyly, Type Iv	6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b...	OMIM:186200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:314632
Brachydactyly Type A1	Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap...	ORPHA:93388
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Arthrogryposis multiplex congenita, Low-set ears, Edema, Cleft palate, Intrau...	OMIM:616570
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Enlarged epiphyses, Pierre-Robin sequence, Midface retrusion, Sensorineural hearin...	OMIM:184840
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm...	OMIM:617225
Lethal Kniest-Like Dysplasia	Polyhydramnios, Narrow chest, Abnormality of the ischium, Abnormal cartilage morphology, Short ne...	ORPHA:2347
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Brachyolmia Type 1, Hobaek Type	Scoliosis, Squared-off platyspondyly, Short iliac bones, Pectus carinatum, Flattened proximal rad...	OMIM:271530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Chorea, Lethargy, Ataxia, Bradykinesia	OMIM:618683
Osteopathia Striata-Cranial Sclerosis Syndrome	Scoliosis, Large iliac wing, Large fontanelles, Increased bone mineral density, Cerebral calcific...	ORPHA:2780
Boomerang Dysplasia	Polyhydramnios, Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone o...	ORPHA:1263
Atkin-Flaitz Syndrome	Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Broad palm, Genu recurvatum, Kyphosis, Max...	OMIM:300431
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral ...	OMIM:300232
Robin Sequence-Oligodactyly Syndrome	Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of...	ORPHA:3104
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla...	OMIM:263540
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme...	ORPHA:246
Cerebrocostomandibular Syndrome	Scoliosis, Polyhydramnios, Congenital hip dislocation, High palate, Elbow flexion contracture, Mi...	OMIM:117650
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Finger clinodactyly, Front...	ORPHA:3352
Maxillonasal Dysplasia	Open bite, Scoliosis, Patchy distortion of vertebrae, Midface retrusion, Mandibular prognathia, T...	ORPHA:1248
Acromesomelic Dysplasia, Grebe Type	Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon...	ORPHA:2098
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Pulmonary hypoplasia	OMIM:615228
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe...	OMIM:220200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Elbow dislocation, Small anterior fontanelle, Micrognathia, Elbow flexion contracture, Femoral bo...	OMIM:210710
Parkinson Disease 6, Autosomal Recessive Early-Onset	Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity	OMIM:605909
Synpolydactyly 1	6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph...	OMIM:186000
Hypotrichosis 7	Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes	OMIM:604379
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short phalanx of finger, Joint laxity, Pes planus, High palate, Short femoral neck, Flat capital ...	OMIM:612350
Neu-Laxova Syndrome 2	Scoliosis, Rocker bottom foot, Short neck, Abnormality of the pinna, Low-set ears, Cleft palate, ...	OMIM:616038
Desbuquois Dysplasia 1	Scoliosis, Short metatarsal, Narrow mouth, Narrow chest, Joint laxity, Phalangeal dislocation, Br...	OMIM:251450
Melnick-Needles Syndrome	Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses ...	OMIM:309350
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus	OMIM:604213
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla...	OMIM:228930
Langer Mesomelic Dysplasia	Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of...	ORPHA:2632
Anauxetic Dysplasia 3	Joint hypermobility, Oligodontia, Hip subluxation, Narrow chest, Femoral bowing, Genu valgum, Wid...	OMIM:618853
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ...	OMIM:615643
Ulbright-Hodes Syndrome	Thin vermilion border, Narrow mouth, Bilateral external ear deformity, Phocomelia, Abnormality of...	ORPHA:3404
Tarp Syndrome	Scoliosis, Small earlobe, Abnormality of the antihelix, Large fontanelles, Tongue nodules, Postax...	ORPHA:2886
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Dysostosis, Stanescu Type	Scoliosis, Wormian bones, Carious teeth, Massively thickened long bone cortices, Abnormal dental ...	ORPHA:1798
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Scoliosis, Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow disloc...	OMIM:143095
Temple Syndrome	Scoliosis, Joint hypermobility, Short philtrum, Frontal bossing, Recurrent otitis media, Flexion ...	OMIM:616222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Pulmonary hypoplasia, Abnormality of the diaphragm, Congenital diaphragma...	OMIM:601163
Cleidocranial Dysplasia	Enamel hypoplasia, Scoliosis, Wormian bones, Narrow palate, Narrow chest, Hypoplastic frontal sin...	OMIM:119600
Brachymesomelia-Renal Syndrome	Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Low-set ears, Fibular hypoplasi...	OMIM:113470
Codas Syndrome	Enamel hypoplasia, Scoliosis, Polyhydramnios, Short phalanx of finger, Congenital hip dislocation...	OMIM:600373
Postaxial Acrofacial Dysostosis	Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto...	OMIM:263750
Anauxetic Dysplasia 1	Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, ...	OMIM:607095
Baller-Gerold Syndrome	Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder mo...	OMIM:218600
Ectodermal Dysplasia 6, Hair/Nail Type	Dystrophic toenail, Sparse hair, Alopecia, Thin toenail	OMIM:614928
Orofaciodigital Syndrome Iv	Porencephalic cyst, Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Pectus excava...	OMIM:258860
Woolly Hair, Autosomal Recessive 3	Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes	OMIM:616760
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra...	ORPHA:101150
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Easily subluxated first metacarpophalangeal joints, Micrognathia, Pierre-Robin s...	OMIM:311895
Dyggve-Melchior-Clausen Disease	Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphos...	OMIM:223800
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh...	OMIM:601438
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Abnormal respirator...	ORPHA:1018
Craniosynostosis-Fibular Aplasia Syndrome	Open bite, Wormian bones, Short neck, Large fontanelles, Talipes, Midface retrusion, Abnormal ste...	ORPHA:1533
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplastic pubic bones, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High palate, Elbow fl...	OMIM:276820
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the radius, Broad thumb, Large fontanelles, Elbow dislocation, Talipes, Broad hallu...	ORPHA:2249
Trichorhinophalangeal Syndrome, Type Iii	Coxa magna, Long philtrum, Scoliosis, Short metatarsal, Short phalanx of finger, Dental crowding,...	OMIM:190351
Progressive Supranuclear Palsy-Corticobasal Syndrome	Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A...	ORPHA:240103
Otoonychoperoneal Syndrome	Macrotia, Prominent superior crus of antihelix, Posteriorly rotated ears, Low-set ears, Aplasia/H...	OMIM:259780
Osteogenesis Imperfecta, Type Ix	Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Pectus excavatum, Beaded ribs, Kyphosi...	OMIM:259440
Dystonia 16	Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par...	OMIM:612067
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Scoliosis, Platyspondyly, Osteoporosis, Thick lower lip vermilion, Hypoplasia ...	OMIM:234250
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir...	ORPHA:174
Atelosteogenesis Type Iii	Polyhydramnios, Elbow dislocation, Club-shaped distal femur, Absent radius, High palate, Microgna...	ORPHA:56305
Cornelia De Lange Syndrome 1	Downturned corners of mouth, Sensorineural hearing impairment, Phocomelia, High palate, High, nar...	OMIM:122470
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Abnormality of the tongue, Abnormality of the knee, Preaxial hand polydactyl...	ORPHA:3098
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Platyspondyly, Short thorax, Hydrops fetalis, Narrow chest, Hypoplastic pelvis, H...	ORPHA:85166
Kinsship Syndrome	Scoliosis, Downturned corners of mouth, Polydactyly, Pes planus, Mandibular prognathia, Death in ...	OMIM:619297
Spinocerebellar Ataxia 30	Cerebellar atrophy	OMIM:613371
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short phalanx of finger, Sensorineural hearing impairment, Micrognathia, Coronal cleft vertebrae,...	OMIM:215150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Scoliosis, Long philtrum, Osteoporosis, Downturned corners of mouth, Open mouth, Deep philtrum, P...	OMIM:615398
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Mesomelia, Tooth agenesis, Long thorax, Abnormal shoulder morphology,...	ORPHA:1277
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the...	ORPHA:2634
Kyphomelic Dysplasia	Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver...	ORPHA:1801
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Otopalatodigital Syndrome Type 2	Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Elbow dislocation, Flared ...	ORPHA:90652
Pelviscapular Dysplasia	Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Frontal bossing, Hy...	ORPHA:93333
Jung Syndrome	Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge	ORPHA:2321
Tetraamelia-Multiple Malformations Syndrome	Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Anal atresia, Tracheal stenosis, Apla...	ORPHA:3301
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Bilateral single transvers...	ORPHA:2511
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Trichorhinophalangeal Syndrome Type 1 And 3	Scoliosis, Camptodactyly of finger, Long philtrum, Hyperlordosis, Short metatarsal, Frontal bossi...	ORPHA:77258
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Lethal Recessive Chondrodysplasia	Polyhydramnios, Macroglossia, Narrow chest, Flared elbow metaphyses, Generalized osteosclerosis, ...	ORPHA:1423
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Congenital dia...	ORPHA:2140
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Frontal bossing, Rhizomelia, Metaphy...	ORPHA:163966
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication...	OMIM:174500
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond...	OMIM:609324
Craniometadiaphyseal Dysplasia	Scoliosis, Wormian bones, Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Meg...	OMIM:269300
Acrocraniofacial Dysostosis	Craniosynostosis, Broad thumb, Flared iliac wing, Short distal phalanx of finger, Sensorineural h...	ORPHA:949
Femur-Fibula-Ulna Complex	Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ...	ORPHA:2019
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Parkinson Disease 14, Autosomal Recessive	Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity	OMIM:612953
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Irregularity of vertebral bodies, Cone-shaped epiphyses of the phalanges of the ha...	ORPHA:85172
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of...	ORPHA:1350
Greenberg Dysplasia	Polyhydramnios, Epiphyseal stippling, Short phalanx of finger, Narrow chest, Intestinal malrotati...	OMIM:215140
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia	ORPHA:505
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Mesomelia, Abnormality of the pinna, Hypoplasia of the ulna, Neonatal death, Syndactyly, Microgna...	OMIM:228940
Osteogenesis Imperfecta, Type V	Platyspondyly, Wormian bones, Joint hypermobility, Biconcave vertebral bodies, Pes planus, Recurr...	OMIM:610967
Spinocerebellar Ataxia 17	Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,...	OMIM:607136
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb...	ORPHA:71517
Lujan-Fryns Syndrome	Scoliosis, Camptodactyly of finger, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, De...	ORPHA:776
Orofaciodigital Syndrome Type 3	Postaxial hand polydactyly, Thoracic kyphosis, Pectus excavatum, Short sternum, Hamartoma of tong...	ORPHA:2752
Dystonia 12	Dystonia, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism	OMIM:128235
Alexander Disease	Increased CSF protein, Hydrocephalus	OMIM:203450
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Pulmonary hypoplasia, Tracheomalacia, Laryngomalacia	OMIM:245650
Autosomal Recessive Omodysplasia	Long philtrum, Hypoplastic distal humeri, Craniosynostosis, Frontal bossing, Elbow dislocation, R...	ORPHA:93329
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Oral cleft, Forearm undergrowth, Lower limb undergrowth, Microcephaly	OMIM:218650
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Pectus carinatum, Thoracic kyphos...	OMIM:609223
Ulnar Hypoplasia	Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia...	OMIM:191440
Kniest-Like Dysplasia, Lethal	Polyhydramnios, Narrow mouth, Metaphyseal irregularity, Narrow chest, Hypoplastic vertebral bodie...	OMIM:245190
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Craniosynostosis, Abnormal form of the vertebral bodies, Pectus...	ORPHA:3134
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Rhizomelia, Short femur, Short humerus	OMIM:600121
Atypical Juvenile Parkinsonism	Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad...	ORPHA:391411
Metaphyseal Chondrodysplasia, Spahr Type	Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Abnormality...	ORPHA:2501
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis...	OMIM:614188
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central...	ORPHA:99642
Chondroectodermal Dysplasia With Night Blindness	Abnormality of the knee, Platyspondyly, Osteoporosis, Metaphyseal irregularity, Abnormality of de...	ORPHA:319195
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h...	OMIM:602433
Smith-Mccort Dysplasia 1	Scoliosis, Multicentric femoral head ossification, Short phalanx of finger, Metaphyseal irregular...	OMIM:607326
Juvenile Huntington Disease	Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy...	ORPHA:248111
Metatropic Dysplasia	Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Absent p...	OMIM:156530
Postaxial Oligodactyly, Tetramelic	Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta...	OMIM:176240
Pelvis-Shoulder Dysplasia	Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth f...	ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Shohat Type	Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit...	OMIM:602557
Dyskeratosis Congenita, Autosomal Dominant 2	Esophageal stricture, Pulmonary fibrosis	OMIM:613989
Orofaciodigital Syndrome Viii	Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, Median cleft lip	OMIM:300484
Trisomy 4P	Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A...	ORPHA:1738
Metatropic Dysplasia	Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr...	ORPHA:2635
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Wormian bones, Wide anterior fontanel, Broad ribs, Thin calvarium, High palate, Osteopenia, Obtus...	ORPHA:85184
Aarskog-Scott Syndrome	Pes planus, Oral cleft, Short neck, Broad foot, Hypoplasia of the maxilla, Long philtrum, Genu re...	ORPHA:915
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy	OMIM:605388
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit...	OMIM:170390
Aase-Smith Syndrome	Scoliosis, Camptodactyly of finger, Abnormality of the pinna, Aplasia/Hypoplasia of the radius, T...	ORPHA:916
Arthrogryposis, Distal, Type 3	Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislocation, High pal...	OMIM:114300
Mucopolysaccharidosis Type 4	Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the r...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Broad thumb, Short neck, Joint laxity, Midface retrusion, Rhizomelia, Short finger...	OMIM:612813
Cranioectodermal Dysplasia 1	Enamel hypoplasia, Joint laxity, Narrow chest, Short distal phalanx of finger, High palate, High,...	OMIM:218330
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Arthrogryposis multiplex congenita, Scapular winging, Camptodactyly, Flexion contracture, Distal ...	OMIM:617468
Acrootoocular Syndrome	Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se...	ORPHA:2980
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Humeroradial synostosis, Long philtrum, Wide anterior fontanel, Narrow chest,...	OMIM:207410
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea...	ORPHA:411696
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Pectus exca...	OMIM:264475
Achondroplasia	Limited elbow extension, Limited hip extension, Frontal bossing, Generalized joint laxity, Triden...	OMIM:100800
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, S...	OMIM:184250
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Anteverted nares	OMIM:613124
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy...	ORPHA:166011
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia...	OMIM:300894
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ...	ORPHA:363417
X-Linked Dystonia-Parkinsonism	Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:53351
Ivic Syndrome	Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal f...	OMIM:147750
Syndactyly Type 4	6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ...	ORPHA:93405
Pseudodiastrophic Dysplasia	Scoliosis, Platyspondyly, Short neck, Frontal bossing, Elbow dislocation, Midface retrusion, Phal...	OMIM:264180
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Midface ret...	OMIM:617102
Acrofacial Dysostosis, Palagonia Type	Scoliosis, Short 4th metacarpal, Oligodontia, Short neck, Finger syndactyly, Abnormal form of the...	ORPHA:1787
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Pe...	ORPHA:457395
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Intrauterine growth retardat...	ORPHA:1765
Basal Ganglia Calcification, Idiopathic, 1	Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida...	OMIM:213600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Polyhydramnios, Narrow mout...	ORPHA:96334
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Absent septum pellucidum, Foot oligodactyly, Bilateral cleft lip and pala...	OMIM:601357
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Bilateral sensorineural h...	OMIM:605282
Catel-Manzke Syndrome	Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Micrognathia, Low-set, p...	ORPHA:1388
Diamond-Blackfan Anemia 11	Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Atresia of the extern...	OMIM:614900
Vacterl/Vater Association	Anencephaly, Laryngomalacia, Anal atresia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of...	ORPHA:887
Distal Monosomy 17Q	Short thorax, Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypop...	ORPHA:1597
Distal Trisomy 5Q	Long philtrum, Hypoplasia of the radius, Thin vermilion border, Carious teeth, Narrow mouth, Cran...	ORPHA:96097
Achondrogenesis Type 1A	Polyhydramnios, Long philtrum, Short thorax, Hydrops fetalis, Short neck, Narrow chest, Abnormal ...	ORPHA:93299
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4	Cerebellar atrophy	OMIM:615268
Autosomal Recessive Stickler Syndrome	Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula...	ORPHA:250984
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Short neck, Lambdoidal craniosynostosis, Abnormal form of the v...	OMIM:312830
Desbuquois Dysplasia 2	Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Narrow chest, Pes pl...	OMIM:615777
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis	OMIM:261640
Huntington Disease-Like 2	Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity	OMIM:606438
Parkinson Disease 7, Autosomal Recessive Early-Onset	Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ...	OMIM:606324
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent ...	ORPHA:199306
Sternum, Premature Obliteration Of Sutures Of	Micrognathia, Short sternum, Premature sternal synostosis	OMIM:184800
Shox-Related Short Stature	Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor...	ORPHA:314795
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Hydrocephalus	ORPHA:2703
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali...	ORPHA:93351
Juberg-Hayward Syndrome	Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis...	ORPHA:2319
Mucopolysaccharidosis, Type Iva	Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo...	OMIM:253000
Grant Syndrome	Open bite, Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Large fontanelles, Fron...	ORPHA:2097
Acromesomelic Dysplasia, Maroteaux Type	Scoliosis, Hyperlordosis, Frontal bossing, Abnormal form of the vertebral bodies, Beaking of vert...	ORPHA:40
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ...	OMIM:617719
Visceral Myopathy 2	Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat...	OMIM:619350
Aminopterin Syndrome Sine Aminopterin	Oligodontia, Megalencephaly, Short thumb, High palate, Micrognathia, Thoracic scoliosis, Low-set ...	OMIM:600325
Achondrogenesis Type 1B	Polyhydramnios, Long philtrum, Short thorax, Macrocephaly, Short neck, Hydrops fetalis, Narrow ch...	ORPHA:93298
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t...	ORPHA:2491
Saul-Wilson Syndrome	Talipes equinovarus, Platyspondyly, Short metatarsal, Wide anterior fontanel, Pectus carinatum, P...	OMIM:618150
Tibial Aplasia-Ectrodactyly Syndrome	Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo...	ORPHA:3329
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema...	OMIM:274000
Orofaciodigital Syndrome Type 2	Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H...	ORPHA:2751
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho...	ORPHA:1159
Edinburgh Malformation Syndrome	Death in infancy, Hydrocephalus	OMIM:129850
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Platyspondyly, Carious teeth, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones o...	ORPHA:93346
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo...	ORPHA:3201
Van Maldergem Syndrome 1	Scoliosis, Joint laxity, Downturned corners of mouth, Narrow chest, Atresia of the external audit...	OMIM:601390
Uncombable Hair Syndrome	Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair	ORPHA:1410
Omodysplasia 1	Anterolateral radial head dislocation, Increased fibular diameter, Short neck, Micrognathia, Limi...	OMIM:258315
Pycnodysostosis	Osteolytic defects of the distal phalanges of the hand, Scoliosis, Carious teeth, Delayed eruptio...	OMIM:265800
Amyotrophic Lateral Sclerosis 23	Amyotrophic lateral sclerosis	OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Joint laxity, Pes p...	ORPHA:439822
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri...	OMIM:117850
Acrocephalopolydactyly	Premature closure of fontanelles, Abnormality of the mouth, Genu recurvatum, Thoracic hypoplasia,...	ORPHA:221054
Schneckenbecken Dysplasia	Anterior rib cupping, Polyhydramnios, Lateral clavicle hook, Advanced tarsal ossification, Metaph...	OMIM:269250
Jackson-Weiss Syndrome	Short metatarsal, Toe syndactyly, Frontal bossing, Midface retrusion, Broad metatarsal, Broad hal...	ORPHA:1540
Stickler Syndrome, Type I	Scoliosis, Platyspondyly, Pierre-Robin sequence, Conductive hearing impairment, Pectus excavatum,...	OMIM:108300
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ...	OMIM:249600
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ...	ORPHA:240085
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Exaggerated cupid's ...	ORPHA:364577
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy	OMIM:619333
Dysspondyloenchondromatosis	Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy...	ORPHA:85198
Larsen-Like Syndrome	Wide anterior fontanel, Joint laxity, Frontal bossing, Radial deviation of the 4th finger, Conduc...	OMIM:608545
Acrocapitofemoral Dysplasia	Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short ...	ORPHA:63446
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormality of the antihelix, Preaxial hand polydactyly, Large earlobe, Absent tragus, Overfolded...	ORPHA:79113
Cohen Syndrome	Joint hypermobility, Short metatarsal, Open mouth, Pes planus, High, narrow palate, Micrognathia,...	OMIM:216550
Smith-Magenis Syndrome	Scoliosis, Broad palm, Abnormality of the forearm, Pes planus, Mandibular prognathia, Morphologic...	OMIM:182290
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa...	OMIM:271650
Osteolysis Syndrome, Recessive	Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange...	OMIM:259610
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Craniosynostosis, Overlapping toe, Microcephaly, Thick vermilion border, Short met...	OMIM:616723
Mucopolysaccharidosis, Type Ivb	Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert...	OMIM:253010
Thymic Aplasia With Fetal Death	Pulmonary hypoplasia	OMIM:274210
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Hypodysplasia of the corpus callosum, Short neck, Oligohydramnios, Midface retrusi...	OMIM:257300
Spinocerebellar Ataxia 45	Cerebellar atrophy	OMIM:617769
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly...	OMIM:602418
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Parkinsonism-Dystonia, Infantile, 1	Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin...	OMIM:613135
Premature Aging Syndrome, Penttinen Type	Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Midfa...	OMIM:601812
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Scoliosis, Pes planus, Flat acetabular roof, Sensorineural hearing impairment, Narrow greater sci...	OMIM:609616
Camptodactyly Syndrome, Guadalajara Type 1	Open bite, Narrow mouth, Downturned corners of mouth, Narrow chest, Mandibular prognathia, Short ...	ORPHA:1327
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi...	OMIM:619279
Microphthalmia, Syndromic 12	Pulmonary hypoplasia, Broad nasal tip, Wide nasal bridge, Congenital diaphragmatic hernia	OMIM:615524
Huntington Disease	Chorea, Gait ataxia, Rigidity, Bradykinesia	OMIM:143100
Developmental Delay And Seizures With Or Without Movement Abnormalities	Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity	OMIM:617836
Van Maldergem Syndrome 2	Scoliosis, Joint laxity, Downturned corners of mouth, Narrow chest, Atresia of the external audit...	OMIM:615546
Holt-Oram Syndrome	Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp...	OMIM:142900
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Abnormal form of the vertebral bodies, Con...	ORPHA:93262
Alagille Syndrome	Short philtrum, Frontal bossing, Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia ...	ORPHA:52
Femoral-Facial Syndrome	Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Limited shoulder movement, M...	OMIM:134780
Keutel Syndrome	Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Calc...	ORPHA:85202
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e...	OMIM:611717
Trichorhinophalangeal Syndrome Type 2	Hip dysplasia, Genu valgum, Long philtrum, Talipes, Conductive hearing impairment, Low-set, poste...	ORPHA:502
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypo...	OMIM:617866
Infantile Dystonia-Parkinsonism	Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Oculogyric crisis, Limb hype...	ORPHA:238455
Spondylometaphyseal Dysplasia, Corner Fracture Type	Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Hyperco...	OMIM:184255
Cono-Spondylar Dysplasia	Scoliosis, Polyhydramnios, Midface retrusion, Kyphosis, Short humerus, Short 4th toe, Low-set ear...	ORPHA:420794
Shprintzen-Goldberg Craniosynostosis Syndrome	Scoliosis, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Pes planus, Campto...	OMIM:182212
Mesomelic Dysplasia, Savarirayan Type	Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Abnormal thorax mo...	OMIM:605274
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna	OMIM:212780
Congenital Disorder Of Glycosylation, Type Iig	Scoliosis, Camptodactyly, Abnormality of the ribs, High palate, Short neck, Micrognathia, Rhizome...	OMIM:611209
Kniest Dysplasia	Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Coronal cleft vertebrae...	OMIM:156550
Spondyloepiphyseal Dysplasia Tarda	Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla...	ORPHA:93284
Rhyns Syndrome	Radial bowing, Conductive hearing impairment, Thickened calvaria, Pituitary hypothyroidism, Short...	OMIM:602152
Non-Distal Trisomy 10Q	Scoliosis, Frontal bossing, Low-set, posteriorly rotated ears, Everted lower lip vermilion, Pectu...	ORPHA:1695
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Bradykinesia, Parkinsonism, Falls, Short stepped shuffling gait, Shuffling gait	ORPHA:412066
Pseudoachondroplasia	Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit...	OMIM:177170
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet	Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Micrognathia, Prominent metopic r...	OMIM:275595
Craniosynostosis 2	Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum...	OMIM:604757
Cerebellofaciodental Syndrome	Scoliosis, Taurodontia, Cerebellar hypoplasia, Macrodontia of permanent maxillary central incisor...	OMIM:616202
Pallister-Hall-Like Syndrome	Short nose, Microglossia, Pulmonary hypoplasia, Cleft palate, Hydrocephalus, Depressed nasal bridge	OMIM:241800
Mesomelia-Synostoses Syndrome	Abnormality of tibia morphology, Narrow mouth, Abnormality of the metacarpal bones, Joint stiffne...	ORPHA:2496
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal sputum, Dysphagia, Abnormal pleura morphology, Abnormal eso...	ORPHA:2357
Martsolf Syndrome 1	Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Broad fingertip, High p...	OMIM:212720
Caribbean Parkinsonism	Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf...	ORPHA:97355
Minicore Myopathy With External Ophthalmoplegia	Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal...	OMIM:255320
Chops Syndrome	Short nose, Gastroesophageal reflux, Laryngomalacia, Aspiration pneumonia, Tracheal stenosis	OMIM:616368
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	Cerebellar dysplasia, Cerebellar hypoplasia	OMIM:616531
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo...	OMIM:618728
Atypical Progressive Supranuclear Palsy Syndrome	Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,...	ORPHA:99750

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