Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (9 diseases)
Human diseases predicted to be associated with Gli2 (2421 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, Optic nerve hypoplasia, Abnormal cortical gyration, Hypoplasia of t...	OMIM:610829
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal rib mo...	ORPHA:280195
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:93924
Microform Holoprosencephaly	Tented upper lip vermilion, Microcephaly, Cleft palate, Orofacial cleft, Short philtrum, Scoliosi...	ORPHA:280200
Culler-Jones Syndrome	Postaxial polydactyly, Midface retrusion, Cleft palate, Cleft upper lip	OMIM:615849
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Holoprosencephaly	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
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Atelosteogenesis, Type Iii	Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Tibial bowing, Knee dislo...	OMIM:108721
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr...	OMIM:108720
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Mounier-Kühn Syndrome	Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T...	ORPHA:3347
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi...	ORPHA:3348
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Achondroplasia	Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi...	OMIM:100800
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhiz...	OMIM:151210
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ...	OMIM:171480
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bod...	ORPHA:1856
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ...	OMIM:164745
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Posteriorly rotated ears, Overlapping toe, Single transverse pa...	OMIM:201170
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E...	ORPHA:2616
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ...	OMIM:154780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Micrognathia, Multiple prenatal fractures, Beaded ribs, Short neck, F...	OMIM:616897
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag...	OMIM:210600
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con...	OMIM:602471
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Femoral-Facial Syndrome	Micrognathia, Orofacial cleft, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Micromelia, Short 4th metacarpal, Epiphyseal stippling, Short long bone, Coron...	OMIM:118651
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,...	OMIM:268310
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca...	ORPHA:958
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, Ab...	ORPHA:950
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Intestinal malrotation, C...	ORPHA:3035
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle...	ORPHA:100984
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Thickened calvaria, Pers...	OMIM:265900
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia	ORPHA:3346
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Polyhydramnios, Narrow chest, Short phal...	ORPHA:56304
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat...	OMIM:617866
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in...	OMIM:256050
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Flexio...	OMIM:222765
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia	ORPHA:228169
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S...	ORPHA:79106
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso...	ORPHA:94068
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Short neck, Simplified gyral pattern, Narrow chest, Neonatal death, Sho...	OMIM:251230
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig...	ORPHA:3258
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy	ORPHA:458798
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Schneckenbecken Dysplasia	Micromelia, Short neck, Lateral clavicle hook, Polyhydramnios, Lymphedema, Abnormal form of the v...	ORPHA:3144
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia	ORPHA:210571
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Atelosteogenesis Type I	Joint dislocation, Polyhydramnios, Micrognathia, Narrow chest, Absent or minimally ossified verte...	ORPHA:1190
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
W Syndrome	Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow disloc...	ORPHA:2804
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl...	OMIM:619135
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology	ORPHA:2703
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil...	ORPHA:2563
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Campomelic Dysplasia	Micrognathia, Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post...	OMIM:258850
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance	OMIM:609161
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg...	ORPHA:440354
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen...	ORPHA:2831
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo...	OMIM:612447
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Brachycephaly, Long thorax...	OMIM:617925
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short...	OMIM:252100
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac...	OMIM:300373
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance	OMIM:600116
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Brachycepha...	OMIM:618371
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Abnor...	ORPHA:3268
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fet...	ORPHA:2879
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation...	OMIM:128230
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p...	OMIM:311900
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Tracheal atresia	OMIM:601612
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co...	OMIM:613091
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split...	OMIM:200980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Dolichocephaly, Short neck, Mul...	OMIM:618395
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Narrow chest, ...	ORPHA:163649
Spinocerebellar Ataxia Type 5	Cerebellar atrophy	ORPHA:98766
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Microtia, Everted l...	ORPHA:357175
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Downturned corners ...	OMIM:615162
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil...	OMIM:157980
Van Bogaert-Hozay Syndrome	Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m...	OMIM:277150
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,...	OMIM:300423
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th...	ORPHA:628
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona...	OMIM:620076
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Tapered finger,...	OMIM:300602
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Porencephalic cyst, Anteriorly placed a...	OMIM:117650
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Polyhydramnios, Aplasia/Hypoplasia of...	ORPHA:2256
Autosomal Dominant Omodysplasia	Short humerus, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation...	ORPHA:93328
Thanatophoric Dysplasia Type 1	Micromelia, Polyhydramnios, Femoral bowing, Narrow chest, Cloverleaf skull, Abnormal sacroiliac j...	ORPHA:1860
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Microcephaly, Coxa ...	OMIM:616716
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Lymphedema, Calvarial skull ...	ORPHA:1426
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos...	ORPHA:93267
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow...	OMIM:619297
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavi...	OMIM:620099
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Narrow...	ORPHA:93316
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m...	OMIM:602535
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe...	OMIM:220200
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy	OMIM:616410
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Death in infancy, Micromeli...	ORPHA:166272
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:3032
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Gait disturb...	OMIM:618418
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Chudley-Mccullough Syndrome	Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia	OMIM:604213
Dystonia 16	Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait...	OMIM:612067
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Tricho-Dento-Osseous Syndrome	Frontal bossing, Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, En...	ORPHA:3352
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,...	OMIM:311895
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Micrognathia, Pectus excavatum, Postaxial polydactyly, Acces...	OMIM:258860
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Pec...	OMIM:301014
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed...	OMIM:616583
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Cerebral calcification, Micromelia, Short neck, Hypoplasia o...	ORPHA:1798
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar...	OMIM:122470
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu...	ORPHA:454887
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Spinocerebellar Ataxia 45	Cerebellar atrophy	OMIM:617769
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, P...	OMIM:263750
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Generalized...	OMIM:600373
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia	OMIM:128235
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit...	ORPHA:2752
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thu...	OMIM:620113
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Spinocerebellar Ataxia 30	Cerebellar atrophy	OMIM:613371
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Abnormal pinna morphology, Sandal gap, Rhiz...	OMIM:607143
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, E...	OMIM:274000
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park...	ORPHA:314632
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ...	ORPHA:2886
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr...	ORPHA:763
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa...	ORPHA:3404
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate...	OMIM:618363
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Otoonychoperoneal Syndrome	Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ...	ORPHA:949
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Atelosteogenesis Type Iii	Polyhydramnios, Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Sho...	ORPHA:56305
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Rubinstein-Taybi Syndrome 2	Syndactyly, Posteriorly rotated ears, Intestinal malrotation, Broad hallux, Micrognathia, Carious...	OMIM:613684
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Edema, Macroglossia, Short ...	ORPHA:1423
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Joint sti...	ORPHA:1801
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo...	OMIM:616531
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphosco...	OMIM:618853
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Polyhydramnios, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing mo...	ORPHA:1427
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Aase-Smith Syndrome	Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,...	ORPHA:916
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract...	OMIM:601559
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Premature osteoarthri...	OMIM:184840
Trichorhinophalangeal Syndrome Type 1	Frontal bossing, Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of t...	ORPHA:77258
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis	OMIM:619052
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate...	ORPHA:314795
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Lethal Kniest-Like Dysplasia	Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Mesomelic/rhizomel...	ORPHA:2347
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum...	OMIM:615398
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Scarf Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Abnormal form of the vertebral b...	ORPHA:3134
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala...	ORPHA:1277
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy	OMIM:605388
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Narrow chest, ...	OMIM:218330
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Micrognathia, Microcephaly, Cleft palate, Cerebellar hypoplasia, Low-s...	OMIM:616570
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Absent septum pellucidum, Bilateral cleft lip, Cleft upper l...	OMIM:601357
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Loss of ambulation...	ORPHA:521406
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Microcephaly, Kyphosis, Thick lower lip verm...	OMIM:234250
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va...	OMIM:269300
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Pelviscapular Dysplasia	Frontal bossing, Brachydactyly, Hypoplastic scapulae, Abnormal pinna morphology, Congenital hip d...	ORPHA:93333
Microphthalmia, Syndromic 12	Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Cleft palate	OMIM:615524
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Br...	OMIM:607136
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Anal a...	ORPHA:3301
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Osteopathia Striata-Cranial Sclerosis Syndrome	Cerebral calcification, Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large ili...	ORPHA:2780
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatu...	OMIM:259440
Lethal Congenital Contracture Syndrome 11	Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp...	OMIM:617194
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv...	OMIM:156550
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Vacterl/Vater Association	Occipital encephalocele, Congenital diaphragmatic hernia, Anorectal anomaly, Anencephaly, Tracheo...	ORPHA:887
Donnai-Barrow Syndrome	Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontanel, Sensorineural hearing i...	OMIM:222448
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia	OMIM:618824
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond...	ORPHA:2980
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, J...	ORPHA:40
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Posteriorly rotated ears, Rhizomelia, Cranios...	ORPHA:93329
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Wide anterior fon...	OMIM:207410
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio...	ORPHA:96334
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Pectus...	ORPHA:1388
Jung Syndrome	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2321
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Flat occiput, Abnormality of the ear, Abnormal finger morphology, Brachyce...	ORPHA:2511
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis...	ORPHA:1018
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Short thorax, Abnorma...	ORPHA:85166
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G...	OMIM:616145
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t...	ORPHA:2491
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super...	ORPHA:1787
Parkinson Disease 6, Autosomal Recessive Early-Onset	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:605909
Mosaic Variegated Aneuploidy Syndrome 1	Posteriorly rotated ears, Micrognathia, Hypodysplasia of the corpus callosum, Microcephaly, Short...	OMIM:257300
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh...	ORPHA:2751
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectu...	OMIM:609223
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Congenital Diaphragmatic Hernia	Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia...	ORPHA:2140
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ...	ORPHA:163966
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Carious teeth, Absent thumb, Microcephaly...	ORPHA:96097
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga...	OMIM:221820
Juberg-Hayward Syndrome	Toe syndactyly, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, ...	ORPHA:2319
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental...	ORPHA:319195
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc...	OMIM:271665
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy	OMIM:619333
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta...	OMIM:182212
Immunodeficiency 12	Recurrent lower respiratory tract infections, Esophageal stricture, Bronchiectasis	OMIM:615468
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Scarf Syndrome	Barrel-shaped chest, Posteriorly rotated ears, Short neck, Abnormal form of the vertebral bodies,...	OMIM:312830
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Short ne...	OMIM:210710
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Spinocerebellar Ataxia, Autosomal Recessive 32	Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal dental en...	ORPHA:582
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Frontal bossing, Microcephaly, Hypoplasia of the odontoid proce...	ORPHA:85172
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Barrel-shaped chest, Relative macrocephaly, Posteriorly rota...	OMIM:612813
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Trigonocephaly...	ORPHA:79113
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Aminopterin Syndrome Sine Aminopterin	Thoracic scoliosis, Micrognathia, Brachycephaly, Oligodontia, High palate, Syndactyly, Rudimentar...	OMIM:600325
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon...	OMIM:184255
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome...	OMIM:258315
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Pulmonary hypoplasia, Tracheomalacia	OMIM:245650
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ...	OMIM:277170
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Flexion contracture, Hydrops fetalis, N...	ORPHA:1865
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia	OMIM:617384
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Short metatar...	ORPHA:439822
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Achondrogenesis Type 1A	Multiple rib fractures, Frontal bossing, Recurrent fractures, Micromelia, Micrognathia, Abnormal ...	ORPHA:93299
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Dolichocephaly, Carious teeth...	OMIM:617102
Alagille Syndrome	Hypoplasia of the ulna, Frontal bossing, Micrognathia, Abnormal rib morphology, Brachycephaly, Ab...	ORPHA:52
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Cohen Syndrome	Pes planus, Thoracic scoliosis, Short metacarpal, Lumbar hyperlordosis, Single transverse palmar ...	OMIM:216550
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol...	OMIM:142900
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bone...	OMIM:616229
Achondrogenesis Type 1B	Frontal bossing, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Polyhydr...	ORPHA:93298
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r...	ORPHA:2097
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno...	ORPHA:1597
Anauxetic Dysplasia 2	Short neck, Flexion contracture, Coxa vara, Hypoplasia of the femoral head, Thoracolumbar kyphosc...	OMIM:617396
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Midface retrusion, Polyhydramnios, Short neck, Kyphosis, Par...	ORPHA:420794
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina...	OMIM:615777
Pseudodiastrophic Dysplasia	Smooth philtrum, Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micro...	OMIM:264180
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia	ORPHA:71517
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormality of the e...	ORPHA:457395
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ...	ORPHA:250984
Fibrochondrogenesis 2	Frontal bossing, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wid...	OMIM:614524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragma...	OMIM:601163
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi...	OMIM:114300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Frontal bossing, Kyphoscoliosis, Wide anterior fontanel, Dental ...	OMIM:608545
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop...	ORPHA:1540
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender lon...	OMIM:608154
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr...	ORPHA:240094
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, F...	OMIM:200610
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Death in infancy, Polyhyd...	OMIM:616809
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor...	OMIM:255800
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe...	ORPHA:1327
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barr...	OMIM:607095
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ...	OMIM:212720
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Rhyns Syndrome	Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short...	OMIM:602152
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Dysspondyloenchondromatosis	Joint dislocation, Cerebral calcification, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry,...	ORPHA:85198
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement	OMIM:276821
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal...	ORPHA:2145
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn...	ORPHA:1307
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla, A...	ORPHA:93262
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ...	OMIM:612651
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Pectus excavatum, Microcephaly,...	ORPHA:1695
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac...	OMIM:108300
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ...	OMIM:617468
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Joint dislocation, Thin upper lip vermilion, Bilateral single ...	ORPHA:502
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple pre...	OMIM:259420
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis	OMIM:615643
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal...	ORPHA:166108
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Microcephaly, Abnormality of the denti...	OMIM:258865
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu...	ORPHA:192
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Fetal ascites, Squared ilia...	OMIM:215045
Slc35A2-Cdg	Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Sho...	ORPHA:356961
Edinburgh Malformation Syndrome	Death in infancy, Hydrocephalus	OMIM:129850
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Protruding ear,...	ORPHA:85279
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Edema, Hypoplas...	ORPHA:93296
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Frontal bossing, Abnormal rib morphology, Macrocephaly, Conductive hea...	ORPHA:1513
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur...	OMIM:610967
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic...	ORPHA:240085
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ...	ORPHA:90653
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Frontal bossing, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, ...	OMIM:600204
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral clavicle hook, Brachycephaly, Hydrops fetalis, Pectus carin...	OMIM:263520
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Midface retrusion, Short dis...	ORPHA:2776
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clino...	OMIM:614701
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren...	ORPHA:85202
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flexion contract...	OMIM:224690
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Pectus c...	OMIM:300676
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Spinocerebellar Ataxia 10	Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal sensory impairment, D...	OMIM:603516
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel...	OMIM:255320
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking	ORPHA:306669
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Polyhydramnios, ...	OMIM:187601
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormal trache...	ORPHA:1790
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B...	OMIM:615222
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Partial agenesis of the corpus callosum, Brachyce...	OMIM:135900
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular necr...	ORPHA:2557
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Bradykinesia, Ataxia, Rigidity	OMIM:617836
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp...	ORPHA:238455
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Long ...	OMIM:618870
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Protruding ear, Pectus carinatum, Enlarged thorax, Femoral bowing, ...	OMIM:614856
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Micrognathia, Metat...	ORPHA:3082
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Wide ...	ORPHA:2021
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,...	OMIM:605274
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Midface retrusion, Frontal bossing, Recurren...	OMIM:616294
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophag...	OMIM:314390
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free...	OMIM:619911
Achondrogenesis	Frontal bossing, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Polyhydr...	ORPHA:932
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Abnormality of t...	ORPHA:1387
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi...	ORPHA:2484
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Triangular m...	ORPHA:166024
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Dolichocephaly, Open bite, High pala...	ORPHA:168624
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hyp...	OMIM:136760
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Frontal bossing, Midface retrusion, Posteriorly rotated ears, Cleft soft p...	OMIM:618529
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi...	OMIM:184705
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem...	OMIM:619142
Muenke Syndrome	Brachycephaly, Coronal craniosynostosis, High palate, Short middle phalanx of toe, Thimble-shaped...	OMIM:602849
Hurler-Scheie Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Contracture of ...	OMIM:607015
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Filippi Syndrome	Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c...	OMIM:272440
Pierpont Syndrome	Uplifted earlobe, Short neck, Brachycephaly, Widely spaced teeth, Prominent fingertip pads, Joint...	ORPHA:487825
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Polyhydramnios, Micrognathia, Cleft hard palate, Short neck, Clinodactyly of the...	OMIM:300990
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab...	OMIM:183090
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Cone-shaped epiphysis,...	ORPHA:71267
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Trigon...	OMIM:604757
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Cutaneou...	OMIM:211380
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, Microtia, Macroc...	ORPHA:261295
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr...	OMIM:619719
Brachycephaly, Trichomegaly, And Developmental Delay	Prominent fingertip pads, Flat occiput, Single transverse palmar crease, Microcephaly, Supernumer...	OMIM:617412
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Narrow foot, Tibial bowing, Tarsometa...	OMIM:600383
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Facial edema, Reduced bone mineral density, Microdontia, Hy...	ORPHA:2909
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t...	ORPHA:245
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Microcephaly, ...	ORPHA:77300
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric...	ORPHA:2050
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Protruding ear, Pectus carinatum, Tibial bow...	ORPHA:93315
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Microcephaly, Kyphosis, Limited elbow extension, S...	OMIM:180870
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Micrognathia, Lower ...	ORPHA:1703
Thanatophoric Dysplasia, Type I	Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small...	OMIM:187600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi...	OMIM:304150
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Brachydactyly, Abnormal thorax morpho...	ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Kyphoscolios...	OMIM:614727
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5t...	ORPHA:1520
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab...	OMIM:606324
Three M Syndrome 2	Short neck, Protruding ear, Pectus carinatum, High palate, Intrauterine growth retardation, Long ...	OMIM:612921
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Microcephaly, Down...	ORPHA:2107
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Action tremor	OMIM:606438
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ...	ORPHA:2357
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ri...	OMIM:300863
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesopha...	ORPHA:2437
Leber Optic Atrophy And Dystonia	Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscolios...	OMIM:215100
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy...	OMIM:235510
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Dyskeratosis Congenita, Autosomal Recessive 1	Oral leukoplakia, Esophageal stricture, Pulmonary fibrosis	OMIM:224230
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb...	OMIM:607323
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hypoplas...	OMIM:619841
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Cerebral ca...	ORPHA:1782
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy...	OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Polyhydramnios, Pectus carinatum, Vertebral ...	OMIM:312870
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Polyhydramnios, Coxa vara, Pectus carinatum, High palate, W...	ORPHA:800
Pierpont Syndrome	Short neck, Brachycephaly, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingerti...	OMIM:602342
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy	OMIM:602475
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening, Midface retrusion	OMIM:300261
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand...	OMIM:246560
Dyskeratosis Congenita, Autosomal Dominant 2	Oral leukoplakia, Esophageal stricture, Pulmonary fibrosis	OMIM:613989
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy...	ORPHA:1848
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b...	OMIM:126550
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Conductive hearing impairme...	ORPHA:444077
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon...	OMIM:602271
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Pec...	ORPHA:481152
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Underfolded helix, Cleft...	OMIM:620107
Thanatophoric Dysplasia	Micromelia, Polyhydramnios, Narrow chest, Cloverleaf skull, Abnormal sacroiliac joint morphology,...	ORPHA:2655
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe...	OMIM:208500
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Triphalangeal th...	ORPHA:794
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Beaking of vertebral ...	OMIM:231070
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primar...	OMIM:257850
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Pulmonary hypoplasia	OMIM:614096
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ...	ORPHA:3473
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna m...	ORPHA:178303
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve...	ORPHA:2462
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Sensorineural hearing impairment, Uln...	OMIM:605432
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Shuffling gait, Difficulty walk...	ORPHA:53351
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Posteriorly rotated ears, Bowed humerus, Short li...	OMIM:619479
Mesomelic Dysplasia, Nievergelt Type	Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality...	ORPHA:2633
Alexander Disease	Death in infancy, Abnormal dentate nucleus morphology, Hydrocephalus, Death in adolescence, Death...	OMIM:203450
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinski sign, Limb at...	OMIM:615157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	OMIM:614830
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ...	OMIM:224400
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia	OMIM:261640
Cranioectodermal Dysplasia	Narrow chest, Clinodactyly of the 5th finger, Microdontia, Finger syndactyly, Rhizomelia, Abnorma...	ORPHA:1515
Achondrogenesis, Type Ib	Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Umbilical hernia, Stillbirt...	OMIM:600972
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Micr...	OMIM:300590
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia...	OMIM:122860
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Microgna...	OMIM:241800
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Mi...	OMIM:611209
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi...	ORPHA:2167
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Hydrops fetalis, Narrow chest, Distal shortening of limbs, Increase...	ORPHA:50945
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Death in ch...	OMIM:613320
Pentasomy X	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Microcephaly, Small han...	ORPHA:11
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,...	ORPHA:13
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li...	ORPHA:156728
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Clinodactyly	OMIM:615984
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Microgna...	OMIM:224410
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Latera...	OMIM:617895
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Anodontia, Hearing impairme...	ORPHA:90650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Osteoporosis, Cerebral atrophy, Finger clinodactyly, Pat...	ORPHA:2958
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi...	ORPHA:881
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Thoracic platyspondyly, Increased intervertebral space, Metaphyseal widening, Squa...	OMIM:618961
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla,...	OMIM:166300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Brachycephaly, Clinodactyly of the 5th finger, Prominent fingertip pads, T...	OMIM:619721
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-...	OMIM:226980
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Microcephaly, Hyperlordosis, Short neck, Short thorax, Abnormal rib morphology, Abn...	ORPHA:1797
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis	OMIM:275300
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Hypochondroplasia	Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hy...	OMIM:146000
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus	OMIM:258320
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Spasticity	OMIM:617435
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral...	OMIM:613805
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Barrel-shaped chest, Post...	ORPHA:171866
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Acrocephalopolydactyly	Genu recurvatum, Short neck, Oxycephaly, Short long bone, Microtia, Limb undergrowth, Thoracic hy...	ORPHA:221054
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Single transverse palmar crease, Microcephaly, Adducted thumb, Notched primary central incisor, L...	OMIM:620062
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Brachycephaly, Pectus carinatum...	OMIM:245600
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai...	ORPHA:289560
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601809
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He...	ORPHA:2180
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly,...	OMIM:614120
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Short neck, Brachycephal...	OMIM:259775
Kagami-Ogata Syndrome	Frontal bossing, Long clavicles, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fi...	OMIM:608149
Coffin-Siris Syndrome 6	Frontal bossing, Wormian bones, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Pectus ex...	OMIM:617808
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp...	ORPHA:93304
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scolio...	ORPHA:85174
Mirage Syndrome	Hydrocephalus, Esophageal stricture, Gastroesophageal reflux, Aspiration pneumonia, Achalasia	OMIM:617053
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Microcephaly, Narrow mouth, ...	ORPHA:251019
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Microcephaly, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal ...	ORPHA:177
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,...	OMIM:618877
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Polyhydramnios, Micrognathia, Microcephaly...	OMIM:263210
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmo...	ORPHA:2847
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Neoplas...	ORPHA:142
Cantu Syndrome	Short neck, Lymphedema, Metaphyseal widening, Narrow chest, Thick upper lip vermilion, Erlenmeyer...	OMIM:239850
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno...	ORPHA:2588
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Hypoplasia of the ma...	ORPHA:2409
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Trismus, Narrow mouth, Wh...	OMIM:277720
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal ...	OMIM:618188
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui...	OMIM:608710
Immunodeficiency 23	Recurrent respiratory infections, Esophageal stricture, High palate, Bronchiectasis	OMIM:615816
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Polyhydra...	ORPHA:3103
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Promin...	OMIM:619122
Pallister-Hall Syndrome	Hemivertebrae, Bifid uvula, Microretrognathia, Low-set, posteriorly rotated ears, Mesoaxial polyd...	ORPHA:672
Coffin-Siris Syndrome 11	Frontal bossing, Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia...	OMIM:618779
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Duplication Of The Pituitary Gland	Encephalocele, Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process m...	ORPHA:314621
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narr...	OMIM:269860
Metaphyseal Acroscyphodysplasia	Joint dislocation, Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of th...	ORPHA:1240
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, Thoracic dysplasia, High palate...	OMIM:614091
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Nonimmune hydrops feta...	OMIM:166210
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Posteriorly rotated ears, Microcephaly, Short neck, Sensorineural hearing impairm...	OMIM:618958
Serkal Syndrome	Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:139466
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Beta-Propeller Protein-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Truncal ataxia, Episod...	OMIM:601338
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness...	ORPHA:157941
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib...	ORPHA:3015
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Short neck, Flexion contracture, Brachycephaly, Protruding ear, High palate, Tapere...	OMIM:617452
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Single transverse palma...	OMIM:616788
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Edema, Abnormal occipital bone morphology...	ORPHA:73
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusi...	ORPHA:959
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot...	ORPHA:251056
Neurogenic Arthrogryposis Multiplex Congenita	Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathia, Equinovarus deformi...	ORPHA:1143
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Cogwheel rigidity, Distal sensory impairment, Bradykinesia, Paresthesia, Shuffling gait, ...	ORPHA:254886
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia	OMIM:616553
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Cel...	ORPHA:576283
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white matter abnormalities, Flex...	OMIM:218000
Cerebellofaciodental Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Hypoplasia of the pons, Microcephaly...	OMIM:616202
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thick lower lip verm...	OMIM:618658
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Monosomy 18P	Kyphoscoliosis, Micrognathia, Carious teeth, Pectus excavatum, Microcephaly, Short neck, Lymphede...	ORPHA:1598
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Proximal placement o...	ORPHA:1488
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr...	OMIM:615761
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ...	ORPHA:93324
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Upper limb perome...	ORPHA:1299
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti...	OMIM:619725
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Bilater...	OMIM:615582
Holoprosencephaly 9	Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal cortical gyration, Hypoplasia of t...	OMIM:610829
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas...	OMIM:132400
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe...	ORPHA:93311
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Lymphedema...	ORPHA:1318
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mob...	ORPHA:3145
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Parkinsonism, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling gait	ORPHA:412066
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, P...	ORPHA:166100
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Micrognathia, Microcephaly, Short neck, Small hand, ...	OMIM:300882
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o...	ORPHA:83
Machado-Joseph Disease	Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi...	OMIM:109150
Wieacker-Wolff Syndrome, Female-Restricted	Polyhydramnios, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narr...	OMIM:301041
Alg3-Cdg	Abnormality of the gastrointestinal tract, Macroglossia, Neural tube defect, High palate, Pulmona...	ORPHA:79321
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Microcephaly, Thick corpus callosum, Brachycephaly, Genu val...	OMIM:617798
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contractur...	OMIM:268300
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Microcephaly, Cleft pal...	OMIM:615502
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Microcephaly, Velopharyngeal insufficiency, High palate,...	OMIM:608363
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Pectus ...	ORPHA:2522
Dyskeratosis Congenita	Recurrent respiratory infections, Esophageal stenosis, Malabsorption, Anorectal anomaly, Tracheoe...	ORPHA:1775
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Frontal bossing, Hypoplasia of the maxilla, Carious teeth,...	ORPHA:50814
Agnathia-Otocephaly Complex	Aglossia, Cleft palate, Pulmonary hypoplasia, Holoprosencephaly, Tracheomalacia, Microglossia	OMIM:202650
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Hypophosphatasia, Infantile	Death in infancy, Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition,...	OMIM:241500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell...	OMIM:617604
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narrow...	OMIM:264090
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, Pectus carinatum, ...	OMIM:121050
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia	ORPHA:352682
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly	ORPHA:324416
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Multiple System Atrophy	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br...	ORPHA:102
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Pes planus, Cerebellar vermis hypoplasia, Genu recurvatum, U...	ORPHA:364028
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cleft palate, Genera...	ORPHA:994
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Micrognathia, Brachycephaly, Abnormal dental morphology, Abnormal d...	ORPHA:85199
Temple Syndrome	Relative macrocephaly, Frontal bossing, Posteriorly rotated ears, Micrognathia, Flexion contractu...	OMIM:616222
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Intellectual Developmental Disorder, Autosomal Dominant 26	Decreased palmar creases, Microcephaly, Micrognathia, Kyphosis, Deep philtrum, Narrow mouth, Brac...	OMIM:615834
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm...	ORPHA:1354
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, C...	OMIM:614188
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ectodermal Dysplasia/Short Stature Syndrome	Esophageal stricture, Dysphagia	OMIM:616029
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Recurrent patellar di...	OMIM:619143
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Frontal bossing, Arachno...	ORPHA:2994
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly...	OMIM:618265
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Microcephaly, Micr...	ORPHA:3121
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia...	ORPHA:94066
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Chiari malformation	ORPHA:261102
Multiple Pterygium-Malignant Hyperthermia Syndrome	Polyhydramnios, Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of ...	ORPHA:2215
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Brachycep...	ORPHA:171839
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Pes planus, Tapered finger, Dolichocephaly, Sensorineural hearing impairme...	OMIM:618672
Multiple System Atrophy, Cerebellar Type	Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig...	ORPHA:227510
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac...	ORPHA:89842
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Polyhydramnios, Micrognathia, Short neck,...	ORPHA:1486
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple...	OMIM:300055
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Joint stiffness, Pectus excavatum, High, narrow palate, Senso...	ORPHA:3242
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Flat occiput, Patellar hypoplasia, Protruding ear, High ...	ORPHA:3041
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
4Q21 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, ...	ORPHA:238750
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Brachydactyly, Cloverleaf skull, Micromelia, Polyhydramnios, Kyph...	ORPHA:93274
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Abnormal cortical gyration, Selective tooth agenesis, Micrognathia,...	OMIM:613823
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p...	OMIM:619941
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin...	ORPHA:2554
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Microcephaly, Pa...	OMIM:613804
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyl...	ORPHA:166277
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ...	OMIM:606851
Neu-Laxova Syndrome	Osteopenia, Cerebral calcification, Micromelia, Micrognathia, Polyhydramnios, Flexion contracture...	ORPHA:2671
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia	OMIM:616733
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h...	ORPHA:1529
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow...	OMIM:277440
Opsismodysplasia	Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ...	OMIM:258480
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl...	ORPHA:2769
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Micrognathia, Polyhydramnios, Brachycephaly, High palate, Narrow ...	OMIM:617746
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Dysphagia, Abnorma...	OMIM:226600
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth...	OMIM:601216
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Protr...	ORPHA:627
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di...	ORPHA:2916
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, U-Shaped upper lip vermilion, Encephalocele, Optic...	OMIM:603671
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Frontal bossing, Lumbar hyperlordosis, Broad hallux, Short thumb, Prematur...	OMIM:165800
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Pneumothorax, Cleft palate, ...	ORPHA:2257
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, Ar...	ORPHA:505237
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno...	ORPHA:249
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Cerebellar hypoplasia	OMIM:619302
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Long philt...	OMIM:130720
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology...	ORPHA:2643
Geroderma Osteodysplastica	Mandibular prognathia, Pes planus, Beaking of vertebral bodies, Recurrent fractures, Talipes, Ost...	ORPHA:2078
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Micrognathia, High, narrow palate, Sensorineural hearing impairment,...	OMIM:604841
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Subcortical band heterotopi...	OMIM:618737
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br...	ORPHA:98933
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Frontal open ...	OMIM:225410
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Multiple joint contractures, Congenital hip dislocation, Cerebellar vermis hypoplasia, Single tra...	OMIM:618291
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus	ORPHA:85335
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur...	ORPHA:240071
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Ky...	ORPHA:263463
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Micrognathia, ...	ORPHA:435638
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal pleura morphology, Esopha...	ORPHA:36426
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ...	ORPHA:508488
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Cleft palate, Femoral bowing, An...	OMIM:616462
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Broad skull, ...	OMIM:277600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Conductive hearing impa...	OMIM:617877
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ...	ORPHA:3412
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:1532
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,...	OMIM:213980
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Hypoplasia of ...	OMIM:253310
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, ...	OMIM:249420
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Frontal bossing, Thin upper lip vermilion,...	OMIM:309520
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture	ORPHA:158673
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Nuchal Bleb, Familial	Stillbirth	OMIM:257350
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,...	OMIM:263650
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno...	ORPHA:2345
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing...	OMIM:109120
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint contracture, Joint laxity, Increased susceptibility to fractures, Long upper li...	OMIM:615349
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Micr...	OMIM:619489
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pectus excavatum, Abnormality o...	OMIM:179613
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Congenital Tracheomalacia	Bronchomalacia, Pneumonia, Anomalous tracheal cartilage, Esophageal atresia, Tracheobronchomalaci...	ORPHA:95430
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Zechi-Ceide Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short metatarsal, Abn...	ORPHA:217017
Melanosis, Neurocutaneous	Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Posteriorly rotated ears, Sandal gap, Tapered finger, Microcephaly, Cleft lip, Narrow...	OMIM:618089
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D...	ORPHA:75567
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Pol...	ORPHA:508533
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ...	OMIM:166220
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Micrognathia, Microcephaly, Brachycephaly, Pectus carinatum, Wide mouth...	OMIM:615419
Occipital Horn Syndrome	Osteopenia, Cerebral calcification, High, narrow palate, Coxa vara, Pectus carinatum, Humerus var...	ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly,...	OMIM:618577
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow...	OMIM:264700
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Pulmonary hypoplasia...	ORPHA:171430
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Hypermanganesemia With Dystonia 2	Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Opisthotonus, Clumsiness, A...	OMIM:617013
Mosaic Trisomy 8	Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches...	ORPHA:96061
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign	OMIM:619063
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Cln3 Disease	Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Shuffling gait, Loss of ambulation, Hirsu...	ORPHA:228346
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ...	ORPHA:98760
Hydrolethalus	Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Polyhydram...	ORPHA:2189
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Lower limb asymmetry, Crowded ma...	ORPHA:2063
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Spatulate ribs, Diffuse white matter abnormalities, Hydrops fetalis, Pe...	ORPHA:79255
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormi...	OMIM:619638
Even-Plus Syndrome	Epiphyseal dysplasia, Short neck, Dysplastic corpus callosum, Vertebral clefting, Brachycephaly, ...	OMIM:616854
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Frontal bossing, Arachnodactyly, Sandal gap, Micromelia, Genu ...	ORPHA:1035
Fraser Syndrome 3	Hydrocephalus, Abnormal lung lobation, Tracheal atresia	OMIM:617667
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Frontorhiny	Low-set, posteriorly rotated ears, Pericallosal lipoma, Encephalocele, Lumbar hyperlordosis, Camp...	ORPHA:391474
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Talipes, Micromelia, Short...	ORPHA:1842
Noonan Syndrome 13	Micrognathia, Short neck, Lymphedema, Enlarged thorax, High palate, Widely spaced teeth, Microdon...	OMIM:619087
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology	ORPHA:93283
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Trisomy 20P	Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine...	ORPHA:261318
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy	OMIM:618412
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Hip subluxation, Brachycephaly, Reduced bone mineral density, Cerebral cortical atr...	OMIM:620200
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m...	OMIM:313400
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Polyhydramnios, Microcephaly, Abnormal limb bone morphology, Hydr...	ORPHA:2204
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Smooth philtrum, Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Oligohyd...	ORPHA:293725
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Downturned corners of mouth, Sh...	ORPHA:3455
Marshall Syndrome	Frontal bossing, Thick upper lip vermilion, Cerebral calcification, Micrognathia, Hypoplasia of t...	ORPHA:560
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Predominantly lower limb lymphedema, Microcephaly, Hypop...	ORPHA:293939
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Chime Syndrome	Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clav...	ORPHA:3474
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Frontal bossing, Enlarged joints, Tapered finger, Pectus excavatum, Short n...	OMIM:607131
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Megalencephaly, Kyphosis, Wide anterior fontan...	OMIM:616482
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Delayed eru...	OMIM:265800
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Congenital contracture, Abnormal sternum morpholog...	OMIM:248700
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres...	ORPHA:3236
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Brachycephaly, Ap...	ORPHA:96149
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing ribs, Abnorma...	ORPHA:2759
Trisomy 9P	Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Microcephaly, Short n...	ORPHA:236
Crouzon Syndrome	Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Brachycepha...	ORPHA:207
Tonne-Kalscheuer Syndrome	Velopharyngeal insufficiency, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Dysphagia	OMIM:300978
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow chest, Narro...	OMIM:250220
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Mi...	ORPHA:99742
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro...	ORPHA:235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebella...	OMIM:613153
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Holoprosencephaly, Pu...	ORPHA:250999
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Thickened h...	OMIM:608328
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Hypoplasia of the maxilla, Simplified gyral pattern, Cleft palate, Cerebral atroph...	OMIM:614261
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posterio...	ORPHA:35107
Geleophysic Dysplasia 3	Tracheal stenosis, Pneumonia	OMIM:617809
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Hydrops fetalis, Pectus carinatum, Narrow greate...	OMIM:253220
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Microcephaly, Abnor...	ORPHA:276422
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Prominent me...	OMIM:613792
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Hig...	OMIM:616866
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Micrognathia, Short neck, Brachycephaly, Short palm, Clinodactyly o...	OMIM:620073
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Hypoplastic is...	ORPHA:3003
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno...	OMIM:617952
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Gastrointestinal inflammation	ORPHA:79409
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab...	OMIM:144750
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Posteriorly rotated ears, Broad hallux, Microcephaly, Wide anterior fo...	OMIM:239710
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Ventriculome...	OMIM:610333
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Slender long bone, A...	ORPHA:1506
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis, Cleft soft palate	OMIM:620183
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration sensation, Babi...	OMIM:258450
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Rib...	ORPHA:2108
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Duodenal stenosis	ORPHA:2470
Clark-Baraitser Syndrome	Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Microcephaly, Brachycephaly, Downt...	OMIM:617752
Corpus Callosum, Partial Agenesis Of, X-Linked	Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	OMIM:304100
Trisomy 13	High, narrow palate, Hydrops fetalis, Narrow chest, Bilateral single transverse palmar creases, A...	ORPHA:3378
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Brachydactyly, Everted upper lip vermilion, Abnormality of the...	OMIM:182290
Al Kaissi Syndrome	Pes planus, Sacral dimple, Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotat...	OMIM:617694
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D...	OMIM:618622
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteriorly placed anus, Tracheomalacia, Tracheal stenosis, Cleft palate	OMIM:217980
Zechi-Ceide Syndrome	Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligod...	OMIM:612916
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Spinocerebellar Ataxia Type 13	Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Gait ataxia, Clumsines...	ORPHA:98768
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Brachycephaly, Long p...	OMIM:212066
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
German Syndrome	Camptodactyly of finger, Micrognathia, Short neck, Hearing abnormality, Lymphedema, Limitation of...	ORPHA:2077
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Hydrops fetalis, N...	OMIM:617022
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Brachycephaly, Abnormal form of the vertebr...	ORPHA:175
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum...	ORPHA:96184
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere...	OMIM:614815
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly...	OMIM:610968
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Brachycephaly, Clinodactyly of the 5th finger, Chronic otitis ...	ORPHA:96263
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Cleft pa...	OMIM:619124
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Bronchitis, Pyloric ...	ORPHA:1199
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased...	OMIM:618476
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Brachycephaly, Clinodactyly of the 5th finger, Chronic otitis ...	ORPHA:96264
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Short neck, Hypoplasia of ...	ORPHA:444072
Fountain Syndrome	Facial edema, Abnormal form of the vertebral bodies, Spina bifida occulta, Spina bifida, Abnormal...	ORPHA:3219
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia	ORPHA:1528
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Ti...	ORPHA:251028
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal...	OMIM:268400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Single transverse p...	OMIM:617425
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Broad finger, Supernumerary maxillary inci...	OMIM:302350
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Brachycephaly,...	ORPHA:2095
Adult-Onset Nemaline Myopathy	Bradykinesia, Poor fine motor coordination, Difficulty walking	ORPHA:171442
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Small earlob...	OMIM:608156
Mosaic Trisomy 9	Micromelia, Micrognathia, Short neck, Polyhydramnios, Hemivertebrae, Hydrops fetalis, Finger clin...	ORPHA:99776
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Senso...	ORPHA:79107
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Anal atr...	ORPHA:93950
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2637
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Microcephaly, Preaxial polydactyly, Retrogn...	OMIM:618142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst	OMIM:615181
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia	ORPHA:70594
Vulto-Van Silfhout-De Vries Syndrome	Joint laxity, Mandibular prognathia, Frontal bossing, Sacral dimple, Tented upper lip vermilion, ...	OMIM:615828
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Muenke Syndrome	Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Brachycephaly, Macrocep...	ORPHA:53271
Fetal Trimethadione Syndrome	Micrognathia, Microcephaly, Brachycephaly, High palate, Abnormal helix morphology, Low-set ears, ...	ORPHA:1913
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri...	ORPHA:666
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Microcephaly, Pectus excavatum, Cleft upper lip, Brachycephaly, Cleft pala...	OMIM:268850
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Microcephaly, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar emine...	OMIM:239800
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Hydrops fetalis, Tali...	OMIM:265000
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ...	ORPHA:828
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor...	ORPHA:83468
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Metaphyseal wid...	OMIM:620083
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia...	OMIM:311200
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Premature loss of primary teeth, Microcephaly, 2-3 toe cutaneous syndactyly, Bra...	OMIM:617364
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus	OMIM:618302
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Finger...	ORPHA:1908
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Kyphoscoliosis, Heari...	OMIM:616507
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Sh...	OMIM:620369
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Intestinal malrotation, Gastroesophageal reflux, Pulmonary hypo...	OMIM:618316
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop...	OMIM:615191
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma...	ORPHA:306682
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Hemivertebrae, Brachycephaly, ...	OMIM:156200
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Posteriorly rotated ears, Exaggerated cupid's bow, Polyhydramnios, Mi...	OMIM:619833
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Narrow chest, Bifid uvula, Long philtrum, Joint laxity, Wide anterior fo...	OMIM:607812
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis	OMIM:601427
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Xylt1-Cdg	Joint laxity, Relative macrocephaly, Pes planus, Joint dislocation, Coxa valga, Microcephaly, Fla...	ORPHA:370930
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, Brachy...	OMIM:612513
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Reduced cerebral white matter volume, Short neck, Brachycephaly, Irregular vertebral endplates, P...	OMIM:610442
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,...	ORPHA:233
Gm1 Gangliosidosis	Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Encephalomalacia, ...	ORPHA:354
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Thin upper lip vermilion, Congenital hip dislocation, Dolichocephaly, Pyloric st...	ORPHA:457279
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p...	ORPHA:1784
Fraser Syndrome	Encephalocele, Anal stenosis, Myelomeningocele, Abnormal lung lobation, Ectopic anus, High palate...	ORPHA:2052
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe...	OMIM:101200
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Microcephaly, Polyhydramnios, Hip dislocation, High palate, Limb unde...	OMIM:618005
Doors Syndrome	Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Hemivertebrae, Brachycephaly,...	ORPHA:79500
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Hypoplasia of the cochlea, Clinodactyly of the 2nd finger, Hypoplasia ...	ORPHA:251061
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Polyhydramnios, Talipes calcaneovalgus, Ab...	ORPHA:818
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners...	OMIM:617140
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Anal stenosis, Cerebellar vermis hypoplasia, Irregular dentition, Microgn...	ORPHA:314679
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ...	OMIM:244460
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Micr...	OMIM:618644
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Par...	OMIM:109400
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait	OMIM:168605
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Microcephaly, Hyperlordosis, Limitation of ...	ORPHA:3068
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Micrognathia, Short neck, Flexion contracture, Calcaneovalgus deformity, Brachycephaly, High pala...	ORPHA:562528
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal bronchus morphology, Abnormal stomach morphology, Abnormal lung mor...	ORPHA:141127
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of c...	OMIM:619194
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Microcephaly, Narrow palate, Protruding ear, Plagiocephaly, Abnormal cerebral white matter morpho...	OMIM:617481
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck...	ORPHA:264450
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Frontal bossing, Osteomalacia, Bowing of the legs, Osteoarthritis, ...	OMIM:307800
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Aspergillosis	Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Pulmonary fibrosis, Abnormal tracheobron...	ORPHA:1163
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Achalasia, Esophageal stenosis, Dysphagia	OMIM:615510
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Three M Syndrome 3	Frontal bossing, Microcephaly, Hyperlordosis, Increased vertebral height, Short neck, Short thora...	OMIM:614205
Moebius Syndrome	Micrognathia, Short neck, Hypoplasia of the brainstem, High palate, Lower limb undergrowth, Short...	OMIM:157900
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Impaired vibration s...	ORPHA:98808
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Hip contracture, Frontal bossing, Tented upper lip vermilion, ...	ORPHA:371364
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi...	OMIM:101400
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, Microcephaly, 2-3 toe cutaneous syndactyly, Submucous cle...	OMIM:164220
Ritscher-Schinzel Syndrome 1	Syndactyly, Missing ribs, Micrognathia, Hemivertebrae, Brachycephaly, Cleft palate, Prominent occ...	OMIM:220210
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P...	OMIM:180849
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Frontal bossing, Smooth philtrum, Posteriorly rotated ears, Thin upp...	OMIM:616801
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Bowing of the legs, Hyp...	ORPHA:1855
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm...	ORPHA:2412
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Radial club hand, Preaxial ha...	ORPHA:3312
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor...	OMIM:305450
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes...	OMIM:619708
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Pes planus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Micro...	ORPHA:459061
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy	OMIM:600559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:613155
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Hennekam Syndrome	Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Narrow chest, Condu...	ORPHA:2136
Pelger-Huet Anomaly	Frontal bossing, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingival overgro...	OMIM:169400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Sensorineural hearing impairment, Short toe, Cone-shaped epiphyses of the phalanges o...	OMIM:619269
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f...	OMIM:616894
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Cerebral calcification, Arachnodactyly,...	ORPHA:377
Restrictive Dermopathy 1	Polyhydramnios, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Anky...	OMIM:275210
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis, Brachycephaly, Macrocephaly, Thicken...	ORPHA:178377
Hypocalcemic Vitamin D-Dependent Rickets	Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib ...	ORPHA:289157
Pendred Syndrome	Tracheal stenosis	ORPHA:705
Childhood-Onset Nemaline Myopathy	Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking	ORPHA:171439
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Cerebral atrophy, Hypoplasti...	OMIM:230600
Chronic Graft Versus Host Disease	Esophageal ulceration, Esophageal stricture, Pneumothorax, Xerostomia, Bronchiectasis, Flexion co...	ORPHA:99921
Aicardi Syndrome	Partial agenesis of the corpus callosum, Protruding ear, Short philtrum, Aplasia/Hypoplasia of th...	ORPHA:50
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla...	ORPHA:228396
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Br...	ORPHA:96148
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joi...	ORPHA:2475
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Hip disl...	OMIM:265050
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap...	OMIM:614592
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ...	ORPHA:819
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Long philtrum, Fused thoracic vert...	ORPHA:97360
Charge Syndrome	Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Hemivertebrae, Hand monodactyly, H...	OMIM:214800
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma...	ORPHA:3138
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin...	ORPHA:171695
Dpm1-Cdg	Flat occiput, Sandal gap, Tented upper lip vermilion, Trigonocephaly, Micrognathia, High, narrow ...	ORPHA:79322
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Diaphanospondylodysostosis	Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Narrow p...	ORPHA:66637
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr...	OMIM:613390
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtrum,...	OMIM:615433
Marden-Walker Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Agenesis of corpus callosu...	ORPHA:2461
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange...	OMIM:105650
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec...	OMIM:618348
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Overfolding of the superior helices, Hypoplastic ischia, Micrognathia, B...	ORPHA:313855
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration...	OMIM:236680
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:236500
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Trisomy 1Q	Microretrognathia, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Poly...	ORPHA:261344
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, High palate, Narrow mouth, Retrognathia	ORPHA:2528
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:97349
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Dandy-Walker malformation, Congenital hip dislocation, Midface retrusion, Frontal bos...	OMIM:219200
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Cleft palate, Pulmonary ...	OMIM:612284
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Single transvers...	OMIM:619720
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Periorbital edema, Brachycephaly, Pectus carinatum, Short palm, Clino...	ORPHA:363659
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Progres...	OMIM:615108
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,...	OMIM:600081
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Sacral dimple, Tented upper lip vermilion, Rocker bottom foot...	OMIM:619762
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Microcephaly, Pierre-Rob...	OMIM:619184
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Prune1-Related Neurological Syndrome	Microcephaly, Micrognathia, Cerebral atrophy, Plagiocephaly, Bilateral talipes equinovarus, Tongu...	ORPHA:544469
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Short neck, Sensorineural hearing impairment, Alveolar ridge overgrowth, Cleft...	OMIM:612938
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Microcephaly, Short n...	OMIM:616038
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ...	ORPHA:1512
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb...	ORPHA:404440
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Brachycephaly, Anter...	ORPHA:247262
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Diastema, Open bite, G...	OMIM:619698
19P13.12 Microdeletion Syndrome	Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Conductive hearing impairm...	ORPHA:254346
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Subcortical cerebral atrophy, High palate, Lumbar hemivertebrae, Abnormal bone ossifi...	ORPHA:2463
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, De...	OMIM:115150
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis...	OMIM:611812
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Macrocephaly, ...	ORPHA:1193
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Posteriorly rotated ears, Microcephaly, Hyperlordosis, Clinodactyly...	OMIM:619980
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Flexion contracture, Short philtrum, Widely spaced teeth, Microdontia, Cl...	OMIM:619293
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hemivert...	ORPHA:85284
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai...	OMIM:150250
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T...	ORPHA:583
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Microcephaly, Cleft palate, Macr...	OMIM:181180
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Polyhydramnios, Conductive hearing impairment, Velopharyngeal i...	ORPHA:199302
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of...	ORPHA:861
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Cerebral atrophy, Downturned corners of ...	OMIM:618729
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B...	OMIM:619148
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu...	ORPHA:2502
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Bronchomalacia, Morgagni diaphragmatic hernia, Atelectasis, ...	OMIM:613177
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp...	OMIM:615948
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Micrognathia, Malabso...	ORPHA:1225
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Arachnodactyly, Dental crowdi...	OMIM:615539
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Abnormal peri...	ORPHA:488632
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, High, narrow palate, Brachycep...	OMIM:613776
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Microcephaly, Elbow dislocation, Coxa vara, Aplasia/Hypopl...	ORPHA:1824
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficiency...	OMIM:129400
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Supernumerary t...	OMIM:617088
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Sensorineu...	ORPHA:17
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Edema, Micrognathia, Short neck, Short metatarsal, High palate, Narrow chest, Widely ...	OMIM:266920
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Microcephaly, ...	OMIM:612940
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Cerebellar vermis hypoplasia, Flat occiput, Micrognathia, Partial agenesis of...	ORPHA:300570
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait	OMIM:168600
Spondyloenchondrodysplasia With Immune Dysregulation	Cerebral calcification, Increased intervertebral space, Metaphyseal widening, Irregular vertebral...	OMIM:607944
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Long thorax, Short philtrum,...	OMIM:616268
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Microcephaly, Congenital sensorineural hearing impairment, Sensorineural hearing im...	ORPHA:500159
Phaver Syndrome	Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Pterygium, Joint stiffne...	ORPHA:2876
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Kleefstra Syndrome 2	Microcephaly, Kyphosis, Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Scoliosis, Midfa...	OMIM:617768
Ivic Syndrome	Hearing impairment, Joint stiffness, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, H...	ORPHA:2307
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Midface...	ORPHA:93258
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, C...	ORPHA:309282
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, P...	ORPHA:1101
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Craniosynostosis, Non-midline cleft lip, Split ...	ORPHA:2117
Fanconi Anemia, Complementation Group W	Microcephaly, Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology, Intrauterin...	OMIM:617784
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi...	ORPHA:99772
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Progres...	OMIM:615109
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short n...	ORPHA:263508
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar...	ORPHA:284984
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Microcephaly, Abnormal rib mo...	ORPHA:2772
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ...	ORPHA:95699
Non-Syndromic Bicoronal Craniosynostosis	Hearing impairment, Brachycephaly, Metacarpal synostosis, Midface retrusion, Brachydactyly	ORPHA:35099
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Sclerotic scapulae, Broad clavicles, Dental m...	OMIM:269500
Distal Duplication 17Q	Micrognathia, Protruding ear, Pectus carinatum, High palate, Short philtrum, Joint laxity, Low-se...	ORPHA:3379
Cdags Syndrome	Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula...	OMIM:603116
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cle...	ORPHA:2990
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Bloom Syndrome	Syndactyly, Microcephaly, Agenesis of maxillary lateral incisor, Protruding ear, Hand polydactyly...	OMIM:210900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste...	OMIM:619718
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Turricephaly, Abnormal scapula morphology, Iliac crest serration, Metaphyseal c...	ORPHA:93317
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Native American Myopathy	Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Abnormal curvature of th...	ORPHA:168572
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increas...	OMIM:616034
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Apl...	ORPHA:1834
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Frontal polymicrogyria, Focal cortical dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Bro...	OMIM:614563
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypoplasi...	OMIM:620157
Malan Overgrowth Syndrome	Frontal bossing, Pectus excavatum, Narrow mouth, Scaphocephaly, Plagiocephaly, Slender long bone,...	ORPHA:420179
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnorma...	ORPHA:93932
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone	OMIM:262500
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Prominent metopic ridge, Single transverse palmar crease, Micrognathia,...	OMIM:619188
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Elbow contracture, Pyloric stenosis, Cleft palate, Ulcera...	OMIM:617137
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, Brachycephaly, High palate, Clinodactyly...	OMIM:612582
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:1548
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Dental crowding, Abnormality of the hand, Micrognathia, Pectus excavatum, Unilateral ...	ORPHA:476126
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Naegeli-Franceschetti-Jadassohn Syndrome	Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma...	ORPHA:69087
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Microcephaly, Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Synd...	OMIM:227330
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab...	ORPHA:436
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Hemangioblastoma	Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum...	OMIM:610759
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Fanconi Anemia, Complementation Group B	Esophageal atresia, Hydrocephalus, Abnormal lung lobation, Tracheoesophageal fistula, Duodenal at...	OMIM:300514
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Caudal Regression Syndrome	Decreased muscle mass, Pulmonary hypoplasia, Anal atresia	ORPHA:3027
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occ...	OMIM:619227
C Syndrome	Joint dislocation, Micromelia, Micrognathia, Short neck, Polyhydramnios, High palate, Biparietal ...	ORPHA:1308
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Brachycephaly, Protruding ear, Enlarged thorax, High palate, Bilateral single tra...	ORPHA:261349
Orofaciodigital Syndrome Type 14	Short neck, Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Lobulated tongue,...	ORPHA:434179
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Microce...	OMIM:616362
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo...	ORPHA:73230
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology	OMIM:611890
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Grant Syndrome	Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia	OMIM:138930
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Monosomy 9Q22.3	Short neck, Palmar pits, Plantar pits, Orofacial cleft, Long philtrum, Odontogenic keratocysts of...	ORPHA:77301
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Pulmonary hypoplasia	ORPHA:86822
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Broad hallux, Overlapping toe, Micrognathia, Cerebral ...	ORPHA:293967
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th...	ORPHA:306542
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Abnormal pinna morphology, Tapered finger, Microcephaly, Brachycephaly,...	ORPHA:352530
Alkuraya-Kucinskas Syndrome	Edema, Micrognathia, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, Pericar...	OMIM:617822
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ...	OMIM:239300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Widel...	ORPHA:369891
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar ...	OMIM:230650
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Cranioectodermal Dysplasia 2	Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Fused teeth, High palate, Narrow chest...	OMIM:613610
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Abnormal morphology of ulna, Short neck, Pect...	ORPHA:1340
Pentalogy Of Cantrell	Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Cleft palate, Pulmona...	ORPHA:1335
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Frontal bossing, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submu...	OMIM:612863
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial...	OMIM:309800
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Sandal gap, Macrodontia, Microcephaly, Brachycephaly, Hip dysplasia, ...	ORPHA:228402
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Pulmonary hypoplasia	OMIM:263200
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Short thumb, Abnormal thora...	ORPHA:1708
Neuhauser Syndrome	Osteopenia, Pes planus, Frontal bossing, Arachnodactyly, Genu recurvatum, Micrognathia, Microceph...	OMIM:249310
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques...	OMIM:200995
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Short neck, Incre...	OMIM:609460
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo...	ORPHA:503
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar verm...	OMIM:601853
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Potocki-Shaffer Syndrome	Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum, Decr...	ORPHA:52022
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Microce...	ORPHA:1236
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Polyhydramnios, ...	OMIM:609465
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls	ORPHA:683
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Parietal foramina...	OMIM:601224
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe syndactyly, Scoliosis, Midfa...	OMIM:619229
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Thin upper lip vermilion, Posteriorly rotated ears, Patchy osteosclerosis, Micro...	OMIM:241410
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, Anotia, High palate, Agenes...	ORPHA:261112
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hearing impairment, Rib fusion, C...	ORPHA:261197
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Frontal bossing, Midface retrusion, Flat occiput, Corpus callosum atrophy,...	OMIM:248500
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con...	OMIM:300166
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Cleft palate, High palate, Holoprosencephaly, Pulmonary hypoplasia	OMIM:612530
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra...	OMIM:601076
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Smooth philtrum, Tented upper lip vermilion, Microcephaly, Micrognathia, Flexion contracture, Bra...	OMIM:620240
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Edema, Micrognathia, Pectus carinatu...	OMIM:617527
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Tetrasomy 5P	Recurrent respiratory infections, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall muscula...	ORPHA:3309
Lessel-Kreienkamp Syndrome	Frontal bossing, Wide cranial sutures, Thin upper lip vermilion, Scaphocephaly, Dental malocclusi...	OMIM:619149
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Posteriorly rotated ears, Single transverse palmar crease, Cranios...	OMIM:613174
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Micrognathia, Pectus excavatum, Long fingers, Microcephaly, Short neck,...	OMIM:156610
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd...	OMIM:106260
Meckel Syndrome 12	Agenesis of cerebellar vermis, Rocker bottom foot, Micrognathia, Microcephaly, Antecubital pteryg...	OMIM:616258
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,...	OMIM:241530
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow palate, Congenital cont...	OMIM:208150
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Ect...	ORPHA:2059
Cerebrocostomandibular Syndrome	Death in infancy, Cerebral calcification, Hydranencephaly, Spina bifida, Micrognathia, Microcepha...	ORPHA:1393
Glass Syndrome	Dental crowding, Anterior tibial bowing, Micrognathia, Conical tooth, Oligodontia, High palate, A...	OMIM:612313
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia	OMIM:173650
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti...	ORPHA:2062
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, High...	ORPHA:436003
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Chondrodysplasia Punctata 2, X-Linked Dominant	Tracheal stenosis, Tracheal calcification	OMIM:302960
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Plagiocephaly, Sandal gap, Narrow palate	OMIM:615516
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Aplasia/Hypoplasia of the tibia, Meningocele, Brachycephaly, Pat...	ORPHA:1827
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Microcephaly, Flexion contracture, Brachycephaly, Narrow palate, An...	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Midface retrusion, Turricephaly, Broad hallux, Micrognathia, Pectus excavatum, Tapere...	OMIM:620224
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Edema, Microcephaly, Short neck, Kyphosis, Pericardial effusion, Hip dislocation...	OMIM:608776
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe...	OMIM:220220
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Protruding ear, High palate, Tali...	ORPHA:169186
Marbach-Rustad Progeroid Syndrome	Wormian bones, Femur fracture, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Red...	OMIM:619322
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S...	OMIM:611174
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Progres...	OMIM:158350
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Spondyloepimetaphyseal Dysplasia, Krakow Type	Frontal bossing, Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavatum, 2...	OMIM:618162
Infantile Systemic Hyalinosis	Osteopenia, Short palm, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodact...	ORPHA:2176
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebra...	OMIM:216340
Dyskeratosis Congenita, X-Linked	Oral leukoplakia, Esophageal stricture, Pulmonary fibrosis, Anal mucosal leukoplakia	OMIM:305000
Cartilage-Hair Hypoplasia	Metaphyseal widening, Brachycephaly, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint l...	OMIM:250250
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas...	OMIM:610217
Peho Syndrome	Edema of the dorsum of feet, Tented upper lip vermilion, Edema, Tapered finger, Edema of the dors...	OMIM:260565
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Short philtrum, Microdontia,...	OMIM:617360
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Brachycephaly, Downturned ...	OMIM:619950
Igg4-Related Thyroid Disease	Tracheal stenosis, Sialadenitis, Dysphagia	ORPHA:64744
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus	ORPHA:363717
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi...	OMIM:609128
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Brachycephaly, Micrognathia	ORPHA:1514
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration...	OMIM:157640
3Mc Syndrome 1	Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Microcephaly, Clef...	OMIM:257920
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Bronchomalacia, Pulmonary hypoplasia, Ileal atresia	OMIM:619351
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly, Clinodactyly of the 5th finger	OMIM:167730
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Microcephaly, Increased skull ossification, Abnor...	ORPHA:1422
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Bifid uvula, Dandy-Walker malformation, Joint laxity, Tapered finger, Low-set ears...	OMIM:300968
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech	OMIM:619827
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Short neck, Swollen lip, Polyhydramnios, Calcaneovalgus deformity, Neon...	OMIM:256520
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Pectus excavatum of inferior sternum, Brachydactyly, Thin upper lip vermilion, Posteriorly rotate...	OMIM:601353
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Image Syndrome	Metaphyseal dysplasia, Frontal bossing, Micromelia, Low-set ears, Intrauterine growth retardation	ORPHA:85173
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microcephaly, Short thumb, Short ...	OMIM:609053
Intellectual Disability-Strabismus Syndrome	Polyhydramnios, Micrognathia, Short neck, High palate, Agenesis of corpus callosum, Thick vermili...	ORPHA:363528
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Midface retrusion, Cerebellar vermis hypoplasia, Polyhydramnio...	ORPHA:1394
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Diaphanospondylodysostosis	Tracheomalacia, Pulmonary hypoplasia, Cleft palate	OMIM:608022
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,...	OMIM:105830
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypopla...	ORPHA:2570
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypo...	OMIM:607597
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Short ...	ORPHA:1752
Loeys-Dietz Syndrome 6	Pes planus, Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Inte...	OMIM:619656
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Chopra-Amiel-Gordon Syndrome	Smooth philtrum, Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Brachy...	OMIM:619504
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Cerebellar vermis hypoplasia, Overlapping toe, Flat occiput, Tented upper lip vermilion, Flexion ...	OMIM:619383
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty...	ORPHA:2920
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Narrow ...	OMIM:618268
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat...	ORPHA:536532
Severe Generalized Junctional Epidermolysis Bullosa	Esophageal stricture, Pneumothorax, Pneumonia, Gastrointestinal inflammation	ORPHA:79404
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Microcephaly	ORPHA:2435
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, External ear malformation, ...	ORPHA:1647
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture...	OMIM:615656
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Pectus excavatum, Abnormal globus pallidus morphology, Brachycephaly, Cleft palate,...	OMIM:618603
19P13.13 Microdeletion Syndrome	Brachycephaly, High palate, Macrocephaly, Deep plantar creases, Low-set ears, Narrow mouth, Hypop...	ORPHA:357001
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep...	OMIM:612289
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metatarsal, Long philtrum, Short metacarpal, Rhizomelia,...	OMIM:614813
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Arachnodactyly, Long foot, Microcephaly, Micrognathia, High, narrow palate, Brachyc...	ORPHA:2707
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High...	OMIM:616364
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Microcephaly, Submucous cleft...	OMIM:619680
Ritscher-Schinzel Syndrome 4	Dandy-Walker malformation, Ulnar deviation of the hand, Tapered finger, Hip dislocation, Brachyce...	OMIM:619435
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Cleft upper lip, Pectus excava...	OMIM:201180
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Renal Agenesis	Pulmonary hypoplasia, Anal atresia	ORPHA:411709
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Short neck, Abnormal rib morphology, Small hand, Spina bif...	ORPHA:488434
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cutaneous finger syndactyly, Conductive hearing...	OMIM:219000
Distal Deletion 19P	Low-set, posteriorly rotated ears, Long toe, Arachnodactyly, Hypoplasia of the maxilla, Sensorine...	ORPHA:96129
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge...	ORPHA:289176
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced...	ORPHA:581
Buratti-Harel Syndrome	Posteriorly rotated ears, Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate...	OMIM:619314
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Fanconi Anemia, Complementation Group P	Absent thumb, Micrognathia, Short thumb, Microcephaly, Hypoplasia of the radius, Hearing impairment	OMIM:613951
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban...	ORPHA:93256
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Pectus excavatum,...	ORPHA:1812
Craniofrontonasal Syndrome	Short neck, Brachycephaly, Coronal craniosynostosis, Clinodactyly of the 5th finger, Agenesis of ...	OMIM:304110
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing...	ORPHA:798
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Protruding ear, Hypoplasia of the brainstem, Widely spaced teeth, Cleft soft palate, Tapered fing...	ORPHA:268261
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp...	OMIM:102500
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Distal clavicular thinning, Micromelia, Microceph...	OMIM:600092
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Co...	ORPHA:1071
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Congenital Myopathy 17	Respiratory tract infection, Cleft palate, Myopathy, Distal arthrogryposis, High palate, Pulmonar...	OMIM:618975
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Birk-Barel Syndrome	Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi...	OMIM:612292
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Brachydactyly, U-Shaped upper lip vermilion, Abnormal pinna m...	OMIM:610253
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Duodenal ulcer, Posteriorly rotated ears, Arachnodactyly, Femur...	OMIM:605822
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormality ...	ORPHA:1794
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, ...	OMIM:618430
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Increased head circumference, Short philtrum, Widely spaced...	OMIM:300967
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Brachycephaly, Femoral bowing, Anteriorly placed anus, Conductive hearing impairme...	OMIM:201750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Short long bone...	OMIM:615633
Aase-Smith Syndrome I	Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Schisis Association	Encephalocele, Micromelia, Microcephaly, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cl...	ORPHA:63862
Distal Triplication 15Q	Hydrocephalus, Flexion contracture, High palate, Pulmonary hypoplasia, Camptodactyly	ORPHA:314588
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Microcephaly, 2-3 toe syndactyly, Brachycepha...	ORPHA:3306
Primrose Syndrome	Cerebral calcification, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexi...	OMIM:259050
Penile Agenesis	Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilateral lung agenesis, Pulmonary ...	ORPHA:49
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Thick upper lip vermilion, Broad femoral neck, Dolicho...	OMIM:619727
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, B...	ORPHA:2962
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Microcephaly, Tapered finger, Short umbilical cord, Hypoplasia of the...	OMIM:618367
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polydactyly, Talipes equinovarus	OMIM:613885
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Palpebral edema, Micromelia, Short ...	ORPHA:50810
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pr...	ORPHA:534
Prune Belly Syndrome	Recurrent respiratory infections, Intestinal malrotation, Aplasia of the abdominal wall musculatu...	ORPHA:2970
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Uplifted earlobe, Tapered finger, Microcephaly, Abnormality of the dentition, Thick ...	ORPHA:261652
Walker-Warburg Syndrome	Posteriorly rotated ears, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pol...	ORPHA:899
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Brachycephaly, Protrudin...	OMIM:148050
9P13 Microdeletion Syndrome	Microretrognathia, Joint stiffness, Abnormality of cartilage of external ear, Brachycephaly, Umbi...	ORPHA:324313
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with...	ORPHA:411602
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Macrodontia, Microcephaly, Protruding ear, Plagiocephaly, Downturned corn...	OMIM:618731
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pr...	OMIM:620370
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Edema, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolys...	ORPHA:324964
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten...	ORPHA:86818
Splenogonadal Fusion With Limb Defects And Micrognathia	Stillbirth	OMIM:183300
Genitopatellar Syndrome	Hip contracture, Knee flexion contracture, Gastroesophageal reflux, Pulmonary hypoplasia, Arthrog...	ORPHA:85201
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Orofacial cleft, High palate, Thickened helices, Conductive hearing impairment, Cl...	OMIM:607872
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus, Cerebral atrophy	OMIM:620306
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Aplastic clavicle, Hamartoma of tongue, Postaxial polydactyly, Micr...	OMIM:616546
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma...	ORPHA:163961
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Cerebral white matter atrophy, Multiple joint contractures, Short neck, Abnormal globus pallidus ...	ORPHA:99646
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Single transverse palmar crease, Microcephaly, Partial agenesis of the corpus...	ORPHA:79243
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Esophageal stricture, Flexion contracture, Inflammation of the large int...	ORPHA:2908
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Dental crowding, Single transverse palmar crease, Protruding tongue, Mi...	OMIM:618106
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High palate, Conductive...	OMIM:605627
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Microcephaly, Abnormality of the elbow, Joint hyperflexibility	ORPHA:2220
Hurler Syndrome	Abnormal clavicle morphology, Frontal bossing, Death in infancy, Camptodactyly of finger, Short n...	ORPHA:93473
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, External ear...	ORPHA:438216
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Peg-...	OMIM:610706
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Lo...	ORPHA:2399
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Micrognathia, Short neck, Tooth malposition, Upper limb u...	ORPHA:529962
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho...	OMIM:163200
Congenital Varicella Syndrome	Intrauterine growth retardation, Cerebral cortical atrophy, Micromelia, Microcephaly	ORPHA:291
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,...	ORPHA:363611
Aymé-Gripp Syndrome	Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered fing...	ORPHA:1272
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Tracheal stenosis, Hydrocephalus, Cleft palate	ORPHA:163979
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux, High palat...	OMIM:614080
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Hippocampal atrophy, Simple ear, Joint laxity, Dolicho...	OMIM:619325
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu...	OMIM:304050
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Conductive hearing impairment, Premat...	ORPHA:99843
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Single transverse palmar crease, Br...	OMIM:614800
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos...	OMIM:174300
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Tapered finger, Trismus, Sensorineural hearing impairment, Flexion contracture, Mic...	OMIM:254940
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Tapered finger, Microtia, Low-set ears, Narrow mouth, Crani...	OMIM:601088
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Brachydactyly, Extra concha fold, Micrognathia,...	OMIM:209885
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Exaggerated cupid's bow, Single transverse palmar crease...	ORPHA:254528
Spondylo-Ocular Syndrome	Pes planus, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibi...	ORPHA:85194
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Microcephaly, Narrow mouth, 2-3 toe cutaneous syndactyly, Brachycepha...	OMIM:300260
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation	OMIM:207950
Craniofacioskeletal Syndrome	Tracheal stenosis, Cleft palate	OMIM:300712
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Cleft upper lip, Brachycephaly, Cleft palate, Hypoplasia of the corpus callosum, Sc...	OMIM:300958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Downturned co...	ORPHA:500150
Galloway-Mowat Syndrome 3	Frontal bossing, Arachnodactyly, Edema, Micrognathia, Hiatus hernia, Pectus excavatum, Microcepha...	OMIM:617729
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnorma...	ORPHA:1830
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Brachycephaly, Hydrops fetalis, Large fleshy ears, Nar...	ORPHA:79328
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Brachycephaly, Pectus carinatum, High palate, Short philt...	ORPHA:3063
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum,...	OMIM:609757
Trisomy 18	Pointed helix, Bilateral single transverse palmar creases, Microretrognathia, Low-set, posteriorl...	ORPHA:3380
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Pectus excavatum, Fractures of the long...	ORPHA:496641
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Umbilical hernia, Hydrocephalus	ORPHA:1516
8Q12 Microduplication Syndrome	Sensorineural hearing impairment, Brachycephaly, Short foot, Everted lower lip vermilion, Narrow ...	ORPHA:228399
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, S...	OMIM:613603
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon...	ORPHA:370959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Cavum...	OMIM:614008
Diamond-Blackfan Anemia	Cleft soft palate, Nonimmune hydrops fetalis, Micrognathia, Absent thumb, Short thumb, Partial du...	ORPHA:124
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Narrow mouth...	OMIM:219150
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Brachycephaly, High pa...	OMIM:244450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Talipes, Microcephaly, Sensorineural hearing impairment, Submucous cleft h...	OMIM:617660
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Brachycephaly, Abnormal tragus mor...	ORPHA:66625
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Intestinal malrot...	ORPHA:457193
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Short neck, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted lowe...	OMIM:616789
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Brachycephaly, Protruding ear, Oligodontia, High palate, Short...	OMIM:309590
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Shor...	ORPHA:2044
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Copper beaten skull, H...	OMIM:617063
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Kyphoscoliosis, Microcephaly, Cleft upper lip, Brachycephaly, ...	OMIM:601701
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Partial ...	OMIM:619512
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Vertebral compression fracture, R...	OMIM:112240
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Loeys-Dietz Syndrome 4	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e...	OMIM:614816
Scimitar Syndrome	Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Abnormal lung morphology, Pa...	ORPHA:185
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, Short neck, Brachycephaly, Downturned corn...	ORPHA:199
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Distal Deletion 3P	Low-set, posteriorly rotated ears, Sacral dimple, Micrognathia, Microcephaly, Short neck, Postaxi...	ORPHA:1620
Viss Syndrome	Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, Generalized joint laxity, B...	OMIM:619472
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Spina ...	ORPHA:1120
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ...	ORPHA:85165
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ...	OMIM:118100
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly	OMIM:602501
Alagille Syndrome 1	Hypoplasia of the ulna, Frontal bossing, Abnormal rib morphology, Hemivertebrae, Low-set ears, Ma...	OMIM:118450
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia...	OMIM:301043
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Periventricular cysts, Abnormal form of the verteb...	OMIM:194190
Sifrim-Hitz-Weiss Syndrome	Trigonocephaly, Tapered finger, Cupped ear, Flat acetabular roof, Macrocephaly, Anteriorly placed...	OMIM:617159
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Polyhydramnios, Short neck, High, narrow palat...	ORPHA:373
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ...	OMIM:613795
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Kagami-Ogata Syndrome	Frontal bossing, Pursed lips, Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Polyhydramnio...	ORPHA:254519
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk...	OMIM:611134
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
6Q Terminal Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Talipes calcaneovalgus, Joint laxity, Aplasia/Hypo...	ORPHA:75857
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Microcephaly, Cle...	OMIM:614749
Stevenson-Carey Syndrome	Posteriorly rotated ears, Narrow mouth, Pierre-Robin sequence, Brachycephaly, Downturned corners ...	OMIM:611961
Fucosidosis	Barrel-shaped chest, Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlo...	OMIM:230000
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Wide ante...	OMIM:614886
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Protruding ear...	OMIM:613458
Tetraploidy	Aplasia/Hypoplasia of the lungs, Cleft palate	ORPHA:3305
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal rib mo...	ORPHA:280195
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Microcephaly, Abnormality of the ...	ORPHA:513456
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia, Hearing im...	ORPHA:195
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Absent or minimally ossified vertebral b...	ORPHA:93271
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia	OMIM:619111
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity	ORPHA:2828
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Aspartylglucosaminuria	Mandibular prognathia, Pectus carinatum, Anterior beaking of lumbar vertebrae, Chronic otitis med...	ORPHA:93
Rett Syndrome	Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking	ORPHA:778
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus	OMIM:617542
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:1046
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Brachycephaly, Ankle clonus, High palate, Pes valgus, Scoliosis, Recurrent otitis ...	OMIM:619995
Fanconi Anemia, Complementation Group F	Sacral dimple, Polyhydramnios, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius,...	OMIM:603467
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Posteriorly rotated ears, Down-sloping shoulders, Micrognathi...	ORPHA:1974
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Sensorineural hearing impairment, Short toe, Brachycep...	OMIM:600430
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:2181
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Gapo Syndrome	Frontal bossing, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micr...	OMIM:230740
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pectus excavatum, Pyloric stenosis, ...	ORPHA:314575
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p...	OMIM:619127
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Respiratory infections in early life, Pulmonary hypoplasia	ORPHA:96179
Beck-Fahrner Syndrome	Pes planus, Microcephaly, Brachycephaly, Protruding ear, Hip dysplasia, High palate, Macrocephaly...	OMIM:618798
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Microcephaly, Short neck, Microtia, Submucous cleft soft palate,...	ORPHA:2282
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate...	OMIM:273395
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename...	ORPHA:2791
Tetrasomy 12P	Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Short neck, Abnormal soft p...	ORPHA:884
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Loc...	ORPHA:73223
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Sub...	OMIM:618971
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Kyphosis, Clinodactyl...	ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Broad metacarpals, Tapered finger, Hyperlordosis, Cleft lip, Thick vermilion border, ...	OMIM:301066
Glutamine Deficiency, Congenital	Micromelia, Flexion contracture, Thin vermilion border, Hypoplasia of the corpus callosum, Low-se...	OMIM:610015
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Pulmonary hypoplasia, Anal atresia, Rectovaginal fistula	OMIM:236700
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Pectus excavatum, Kyphosis, Sensorineural hearing impairment, High palate, Short ph...	OMIM:609944
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:105400
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty...	ORPHA:397590
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Recta...	ORPHA:2538
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Otitis media, Conductive hearing imp...	ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate,...	ORPHA:453499
Down Syndrome	Short neck, Brachycephaly, Downturned corners of mouth, Clinodactyly of the 5th finger, Conductiv...	ORPHA:870
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Midface retrusion, Micrognathia, Abnormality of the elbow, Small hand, Bra...	ORPHA:85276
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Microcephaly, Abnormality of...	ORPHA:3130
Paternal Uniparental Disomy Of Chromosome 5	Kyphoscoliosis, Polyhydramnios, Rhizomelic arm shortening, Posterior plagiocephaly, Abnormal fibu...	ORPHA:96190
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Retinitis Pigmentosa 89	Esophageal varix	OMIM:618955
Geleophysic Dysplasia 1	Tracheal stenosis, Joint contracture of the hand, Wrist flexion contracture, Camptodactyly of finger	OMIM:231050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Uplifted earlobe, Micrognathia, Pectus excavatum, Wide anterior fontane...	OMIM:618548
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia	OMIM:145420
Gm1-Gangliosidosis, Type I	Frontal bossing, Death in infancy, Thickened ribs, Joint stiffness, Short neck, Kyphosis, Gingiva...	OMIM:230500
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Single transverse palmar crease...	OMIM:223370
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Microcephaly, Short neck, Deep philt...	ORPHA:1675
Menkes Disease	Joint laxity, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Osteoporosis, Brachycephaly,...	OMIM:309400
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ...	ORPHA:401973
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Congenital Myopathy 13	Kyphoscoliosis, Micrognathia, Microcephaly, Flexion contracture, Brachycephaly, Cleft palate, Dow...	OMIM:255995
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Pes planus, Overlapping toe, Dental crowding, Kyphoscoliosis...	OMIM:617402
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp...	OMIM:242900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the vertebral column, High p...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the vertebral column, High p...	ORPHA:353277
Mosaic Trisomy 1	Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Cleft palate...	ORPHA:1692
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm...	ORPHA:2907
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bil...	OMIM:601186
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Overlapping toe, Abnormality of the dentition, Carious teeth, Dysplastic corpus ...	ORPHA:363444
Microcephalic Primordial Dwarfism, Dauber Type	Microcephaly, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Microtia, Limb under...	ORPHA:319675
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba...	OMIM:609454
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Pneumothorax, Pulmonary hypoplasia	OMIM:619879
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur...	ORPHA:309854
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Micrognathia, Microcephaly, Narrow mouth, Thin corpus callosum, Macroglo...	OMIM:613457
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Joint contractur...	OMIM:229850
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation	OMIM:225790
Micromelic Bone Dysplasia With Cloverleaf Skull	Cloverleaf skull, Micromelia	OMIM:156830
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Microcephaly, Brachycephaly, Symphalangism affecting the phalanges of the hand, ...	ORPHA:1292
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Missing ribs, Short neck, Esophageal atresia, Tracheoesophageal fistula, Brachyce...	OMIM:619859
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2260
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Micro...	ORPHA:521445
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Thin upper lip vermilion, Metatarsus adductus, Cubitus valgus, Sensorineura...	OMIM:611962
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, M...	ORPHA:782
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Microcephaly, Flexion contract...	OMIM:301072
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Short philtrum, Clinodacty...	ORPHA:1449
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Agenesis ...	ORPHA:261323
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B...	ORPHA:2211
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Smooth philtrum, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the pons, Microcephaly, Sens...	OMIM:300749
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Isolated Childhood Apraxia Of Speech	Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph...	ORPHA:209908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar...	OMIM:613154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia, Anal atresia	OMIM:271520
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Cholesteryl Ester Storage Disease	Esophageal varix	ORPHA:75234
Mullegama-Klein-Martinez Syndrome	Pes planus, Frontal bossing, Thin upper lip vermilion, Micrognathia, Microcephaly, Cleft lip, Sen...	OMIM:301022
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Camptodactyly of finger, Polyhydramnios, Micrognathia, Microcephaly, Su...	ORPHA:3047
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology	ORPHA:2590
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb p...	ORPHA:59315
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Pes planus...	OMIM:614557
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Dental crowding, Micrognathia, Kyphosis, Increased femoral anteversion, Plagioce...	OMIM:619005
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema...	ORPHA:667
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Dysphagia	OMIM:608013
Pagod Syndrome	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Meningocele, Pulmonary artery hypop...	ORPHA:991
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Clinodact...	OMIM:113620
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Microcephaly, Brachycephaly, Hypoplastic vertebral bodies, Plagioce...	ORPHA:2163
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ...	OMIM:616602
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ...	ORPHA:369837
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cerebellar dysplasia, Death in infancy, Hydrocephalus, Partial absence of cerebell...	OMIM:613150
Osteogenesis Imperfecta, Type Xv	Schizencephaly, Recurrent fractures, Hypoplasia of the pons, Thin ribs, Platyspondyly, Bowing of ...	OMIM:615220
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Met...	OMIM:259770
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Widely spa...	OMIM:619539
Infantile Sialic Acid Storage Disease	Hydrocephalus, Death in childhood	OMIM:269920
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Narrow foot, Protruding ear, High palate, Sho...	OMIM:309500
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Polyhydramnios, Micrognathia, Structural foot deformity,...	ORPHA:1662
Multiple Acyl-Coa Dehydrogenase Deficiency	Pulmonary hypoplasia	OMIM:231680
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Pulmonary hypoplasia, Dysphagia	OMIM:615636
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Hypoplasia of the corpus callosum, Macrodontia of permanent maxillary cen...	OMIM:620114
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth, Narrow chest	ORPHA:1861
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Micrognat...	ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Low-set ears, T...	OMIM:619910
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag...	OMIM:619103
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni...	ORPHA:254892
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly...	OMIM:614416
Peroxisome Biogenesis Disorder 1A (Zellweger)	Protruding tongue, High, narrow palate, Macroglossia, High palate, Pulmonary hypoplasia, Dysphagia	OMIM:214100
Renal-Hepatic-Pancreatic Dysplasia 1	Intestinal malrotation, Pulmonary hypoplasia	OMIM:208540
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, 2-3 toe syndactyly,...	OMIM:261990
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna	OMIM:276822
Hartsfield Syndrome	Syndactyly, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Microcephaly, Cleft upp...	OMIM:615465
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Hydrocephalus, Ventriculomegaly	OMIM:218350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Ascites, Decreased skull ossif...	OMIM:602361
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Brachycep...	OMIM:614976
Methimazole Embryofetopathy	Esophageal atresia, Tracheoesophageal fistula	ORPHA:1923
Nephronophthisis 15	Polydactyly	OMIM:614845
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Thin upper lip vermilion, Lumbar hyperlordosis, Broad hallux, Sandal gap, Dental...	OMIM:616078
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Posteriorly rotated ears, Sandal gap, Microcephaly, Small hand, Brach...	OMIM:618885
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti...	OMIM:164210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Brachycephaly, ...	OMIM:612474
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly	OMIM:100700
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Hydrocephalus, Esophageal varix, Pulmonary artery atr...	ORPHA:974
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Lymphatic Malformation 6	Generalized edema, Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Mi...	OMIM:616843
Meester-Loeys Syndrome	Relative macrocephaly, Pes planus, Joint dislocation, Frontal bossing, Arachnodactyly, Dolichocep...	OMIM:300989
Cardiac-Urogenital Syndrome	Bronchomalacia, Intestinal malrotation, Tracheomalacia, Congenital diaphragmatic hernia, Partial ...	OMIM:618280
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis	OMIM:617892
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum	ORPHA:63260
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Brachycephaly, Downturned corners of mouth, Th...	ORPHA:261494
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Micrognathia, Conical tooth, Supernumerary tooth, Sensorineural hearing impairment, Aplasia of th...	ORPHA:90024
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:453504
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Abnormal pinna morphology, Single transverse palmar crease, Microcephaly...	ORPHA:495818
Faundes-Banka Syndrome	Pes planus, Frontal bossing, Thin upper lip vermilion, Fetal ascites, Micrognathia, Cupped ear, C...	OMIM:619376
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner...	ORPHA:352665
Adams-Oliver Syndrome 2	Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation	OMIM:614219
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Meacham Syndrome	Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, Cardiac total anom...	OMIM:608978
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Spontaneous pneumothorax, Recurrent pneumonia, E...	ORPHA:731
Charge Syndrome	Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, A...	ORPHA:138
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Short philtrum, Everted lower li...	OMIM:601499
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced bone mineral density, Long fibula...	ORPHA:935
Microphthalmia, Syndromic 6	Single transverse palmar crease, Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, H...	OMIM:607932
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Dysplastic corpus cal...	ORPHA:544488
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re...	OMIM:601104
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Duplication of the distal phalanx of the hallux, P...	OMIM:180750
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Missing r...	OMIM:613686
Mogs-Cdg	Absent brainstem auditory responses, Thoracic scoliosis, Pulmonary edema, Edema, Polyhydramnios, ...	ORPHA:79330
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Ventriculomegaly	OMIM:175700
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognath...	OMIM:150230
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Kyph...	OMIM:619244
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:261537
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Holoprosencephaly, Hydrocephalus, Tracheoesophageal fistula	ORPHA:77298
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Beaulieu-Boycott-Innes Syndrome	Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa...	OMIM:617247
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Microcephaly, Flexion contract...	OMIM:619321
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Bilateral single transverse palmar c...	ORPHA:264200
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Cerebral white matter atrophy, Microcephaly, Kyphosis, Flexion contracture...	ORPHA:500055
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry	ORPHA:231140
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Polyhydramnios, Thin ribs, High palate, Neonatal death, Retrognathia, Joint hyp...	OMIM:300219
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, P...	ORPHA:137634
Peters Plus Syndrome	Micromelia, Micrognathia, Short neck, Polyhydramnios, Brachycephaly, Widely spaced teeth, Clinoda...	ORPHA:709
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology...	ORPHA:217093
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Reduced cerebral white matter volume, Brachycephaly, Palmoplantar hyperkeratosi...	OMIM:280000
Noonan Syndrome 7	Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia	OMIM:613706
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:2152
Plasminogen Deficiency, Type I	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Digeorge Syndrome	Pilonidal sinus, Micrognathia, Microcephaly, High, narrow palate, Cleft palate, Umbilical hernia,...	OMIM:188400
Van Esch-O'Driscoll Syndrome	Sacral dimple, Microcephaly, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula,...	OMIM:301030
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co...	ORPHA:3042
Lig4 Syndrome	Microcephaly, Malabsorption, Micrognathia, Brachycephaly, Thin vermilion border, Biparietal narro...	ORPHA:99812
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Protruding ear, Advan...	ORPHA:404448
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia,...	OMIM:270400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Micrognathia, Plagiocephaly, Secondary m...	OMIM:617193
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly	ORPHA:60040
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Microcephaly, Hypoplasia of th...	OMIM:129900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Brachycephaly, Abnormal per...	ORPHA:480880
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sensorineural ...	ORPHA:217085
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Micrognathia, Prominent floating ribs, Basal ganglia calcification, Brach...	ORPHA:2785
Shwachman-Diamond Syndrome 2	Death in infancy, Anterior rib cupping, Microcephaly, Metaphyseal widening, Death in childhood, H...	OMIM:617941
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615630
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Esophageal atresia, Short thumb...	OMIM:192350
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Flexion contracture, High palate, Anomalous tracheal cartilage	ORPHA:35173
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix	OMIM:617341
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Velocardiofacial Syndrome	Talipes, Abnormality of the hand, Microcephaly, Velopharyngeal insufficiency, Submucous cleft har...	OMIM:192430
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Toe syndactyly, Absence of Stensen duct, Hypoplastic sacrum, Selective tooth agene...	OMIM:604292
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Short neck, Tr...	OMIM:614083
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph...	OMIM:154500
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Esophageal varix	OMIM:232500
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth	OMIM:137550
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Brachydactyly, Sacral dimple, Dental crowding, Polyhydramnios,...	OMIM:617157
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O...	ORPHA:3016
Meckel Syndrome, Type 1	Occipital encephalocele, Intestinal malrotation, Camptodactyly of finger, Large placenta, Hydroce...	OMIM:249000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Portal Hypertension, Noncirrhotic, 2	Esophageal varix, Hepatocellular carcinoma	OMIM:619463
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Holoprosencephaly 7	Flat occiput, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Parietal boss...	OMIM:610828
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Brachycephaly, Narrow palate, Cleft p...	OMIM:618223
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Glossoptosis, Ankyloglossia	OMIM:618021
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har...	ORPHA:261552
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carinatum, ...	OMIM:619525
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Lhermitte-Duclos Disease	Hydrocephalus, Enlarged cerebellum	ORPHA:65285
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Diabetic Embryopathy	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Wolman Disease	Esophageal varix, Steatorrhea	ORPHA:75233
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palm...	ORPHA:83617
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Recurrent pneumonia, Bronchi...	ORPHA:980
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Malar flattening	OMIM:614424
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Abnormal pinna morphology, Arachnodactyly, Micrognathia, Pectus exc...	OMIM:614437
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Arachnoiditis	Hydrocephalus	ORPHA:137817
Temple Syndrome	Hydrocephalus	ORPHA:254516
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalu...	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Spastic tetraparesis	OMIM:614924
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Hydrocephalus	OMIM:617244
Morquio Syndrome C	Platyspondyly	OMIM:252300
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Death in infancy, Hydrocephalus, Ventriculomegaly	OMIM:614576
Adams-Oliver Syndrome 6	Esophageal varix	OMIM:616589
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, Protruding ear, High palate, Long phi...	OMIM:601776
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi...	OMIM:203500
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Thin upper lip vermilion, Cerebral white matter hypoplasia, Tapered finger, Shor...	OMIM:616728
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi...	ORPHA:268810
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Cerebellar dysplasia	ORPHA:8
Tetrasomy 9P	Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou...	ORPHA:3310
Laryngomalacia	Abnormal tracheal morphology	OMIM:150280
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst	OMIM:616538
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe...	OMIM:257980
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Keutel Syndrome	Sinusitis, Calcification of the auricular cartilage, Cerebral calcification, Short hallux, Miscar...	OMIM:245150
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Microtia, Hypopla...	ORPHA:920
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia ...	ORPHA:238468
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Structural foot deformity, Protruding ear, Hypoplasia of the brainst...	ORPHA:464306
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn...	ORPHA:60030
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Flexion contracture, Pulmonary hypoplasia	OMIM:308050
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Aspartylglucosaminuria	Joint laxity, Microcephaly, Kyphosis, Hypoplastic frontal sinuses, Thick lower lip vermilion, Bra...	OMIM:208400
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Hemimegalencephaly	Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white...	ORPHA:99802
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Diastasis recti, Esophageal atresia, Pulmonary artery stenosis, Partial a...	OMIM:265380
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia of the left hemidiaphragm, Pulmonary ...	OMIM:620025
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Absent radius, Rectal atresi...	OMIM:115470
Short Stature, Microcephaly, And Endocrine Dysfunction	Microcephaly, Sensorineural hearing impairment, Tooth malposition, Simplified gyral pattern, Limb...	OMIM:616541
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Tapered finger,...	OMIM:619480
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Perive...	OMIM:309000
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Pectus excavatum, Short toe, Brachycephaly, Orofacial cleft, Long philtrum, Th...	ORPHA:1519
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes...	ORPHA:131
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Death in...	OMIM:614643
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness	ORPHA:1345
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Plummer-Vinson Syndrome	Glossitis, Tongue atrophy, Esophageal web, Dysphagia	ORPHA:54028
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent...	OMIM:304340
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Esophageal varix, Abnormal muscle glycogen content,...	ORPHA:367
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of...	OMIM:122880
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Short neck, Brachycephaly, Protruding ear, P...	OMIM:620330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Cerebellar hypoplasia	OMIM:615249
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Subcortical cerebral atrophy, Abnormal vertebral morphology, Agenesis of corpus callosum, Abnorma...	ORPHA:2273
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Distal Deletion 15Q	Congenital diaphragmatic hernia, Bifid tongue, Pulmonary hypoplasia, Cleft palate	ORPHA:1596
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Septo-Optic Dysplasia Spectrum	Esophageal atresia, Tracheoesophageal fistula, Cleft palate	ORPHA:3157
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Tented upper lip vermilion, Single trans...	OMIM:601803
Down Syndrome	Joint laxity, Short palm, Aganglionic megacolon, Sandal gap, Single transverse palmar crease, Pro...	OMIM:190685
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognathia, Rhi...	ORPHA:397715
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Esophageal varix	OMIM:216360
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma	ORPHA:64743
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Congenital diaphragmatic hernia, Anal atresia, Cleft palate	ORPHA:95706
Joubert Syndrome 27	Polydactyly	OMIM:617120
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontoc...	ORPHA:457284
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Frontal bossing, Lymphedema	OMIM:300291
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
1P36 Deletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Agenesis of corpus ...	ORPHA:1606
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Midface retrusion, Long foot, Abnormal thumb morphology, Metatarsus adductus, Sensorineural heari...	ORPHA:500095
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Dy...	OMIM:608091
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bo...	OMIM:102700
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma...	ORPHA:3384
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Hydrocephalus, 2-3 ...	OMIM:300960
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Malrotation of small bowel, Knee flexion contracture, Anteriorly ...	OMIM:606170
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Holoprosencephaly 2	Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft hard palate, Absent nasal sep...	OMIM:157170
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia	OMIM:618590
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:2318
3C Syndrome	Death in infancy, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation,...	ORPHA:7
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Toe syndactyly, Hypoplasia of the radius, Clinodactyly of the 5th finge...	ORPHA:140952
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment	ORPHA:2578
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Eosinophilic infiltration of the es...	OMIM:609192
Peho Syndrome	Cerebellar atrophy, Hydrocephalus, Ventriculomegaly	ORPHA:2836
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi...	OMIM:616263
Tibial Hemimelia	Absent tibia	OMIM:275220
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:220497
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Edema, Malabsorption, Abnormal sacroiliac joint morphology, A...	ORPHA:793
Ogden Syndrome	Torticollis, Pulmonary artery stenosis, Narrow palate, High palate, Pulmonary hypoplasia, Dysphag...	OMIM:300855
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	OMIM:614969
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Microcephaly, Submucous cleft hard palate, Flexion contracture, Cerebral atrophy, Ankle clonus, H...	OMIM:618891
Adams-Oliver Syndrome 5	Umbilical hernia, Esophageal varix, Right ventricular hypertrophy	OMIM:616028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Joubert Syndrome	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:475
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl...	ORPHA:2754
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, High palate, Agenesis of corpus callosum, Syndactyly, H...	OMIM:619488
Rabin-Pappas Syndrome	Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia	OMIM:620155
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ...	OMIM:119500
Microphthalmia, Syndromic 3	Vertebral fusion, Frontal bossing, Optic nerve hypoplasia, Missing ribs, Microcephaly, Esophageal...	OMIM:206900
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Clinodactyly of the 5t...	ORPHA:466791
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac...	ORPHA:276244
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormal parotid gland morphology, Abnormal ...	ORPHA:252164
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Microcephaly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, S...	ORPHA:2519
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Dental crowding, Ankle flexion contracture, Elbow flexion contracture, ...	OMIM:618175
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar cyst	OMIM:253800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl...	OMIM:610168
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Craniosynostosis, Aplasia/Hypoplasia involving bones of the s...	ORPHA:1521
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Rib fusion, Cone...	OMIM:157800
Stromme Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Stillbirth, Cerebellar hypoplasia	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Arthrogryposis multiplex congenita, Congenital pyloric atresia	OMIM:226730
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Abnormal cerebellum morphology	ORPHA:97339
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus	ORPHA:2720
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intestinal malrotation, Esophageal varix, Abnormal pulmonary interstitial morphology, Gastroesoph...	OMIM:613658
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Abnormal cortical gyration, Narrow mouth, Thick lower lip vermilion, ...	ORPHA:314647
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Focal Dermal Hypoplasia	Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Camptodactyly of finger, Aplasia/...	ORPHA:2092
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:220493
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hyp...	OMIM:305100
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Tympanosclerosis, Enamel hypoplasia, Malabsorption, Atrophic gastritis	OMIM:240300
Dpagt1-Cdg	Flexion contracture, Pulmonary hypoplasia, Camptodactyly	ORPHA:86309
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Cerebellar hypopl...	OMIM:236670
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Frontofacionasal Dysplasia	Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Mal...	OMIM:229400
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, C...	ORPHA:2356
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia	OMIM:615272
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Vertigo, Esop...	OMIM:301068
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Pseudotrisomy 13 Syndrome	Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly	OMIM:264480
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Esophageal varix, Abnormal pulmonary interstitial morphology, Gastric ulcer, Pulmo...	ORPHA:2072
Gardner Syndrome	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:79665
Isolated Exencephaly	Polyhydramnios, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Low-set ears, ...	ORPHA:563612
Emanuel Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Tooth Agenesis, Selective, 4	Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr...	OMIM:150400
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Cholesteryl Ester Storage Disease	Esophageal varix, Steatorrhea	OMIM:278000
Emanuel Syndrome	Hydrocephalus, Chiari malformation, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:613001
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Microsporidiosis	Myositis, Pneumonia, Bronchitis, Abnormal tracheal morphology, Bronchiolitis, Glossitis	ORPHA:2552
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Agenesis of corpus c...	ORPHA:857
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hypoplastic pelvis, Hyperplasi...	OMIM:612731
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Cholestasis, Progressive Familial Intrahepatic, 8	Esophageal varix	OMIM:619662
Choanal Atresia	Chronic sinusitis, Polydactyly	ORPHA:137914
Cirrhosis, Familial	Esophageal varix	OMIM:215600
Congenital Sialidosis Type 2	Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:93400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ...	ORPHA:2250
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Deep palmar crease, Pol...	OMIM:247200
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Humeroradial Synostosis	Brachycephaly, Small earlobe, Humeroradial synostosis, Microtia	OMIM:236400
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:608627
Medulloblastoma	Hydrocephalus, Cerebellar calcifications, Cerebellar cyst	ORPHA:616
Joubert Syndrome With Hepatic Defect	Aplasia/Hypoplasia of the cerebellum, Occipital encephalocele, Hydrocephalus, Cerebellar vermis h...	ORPHA:1454
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Micrognathia	ORPHA:314655
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood	OMIM:612301
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Esophageal varix, Hepatocellular adenoma, Increased sarcoplasmic glycogen	ORPHA:264580
Holoprosencephaly	Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Spinal dysraphism, Aplasia/Hypopla...	ORPHA:2162
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul...	ORPHA:247806
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Microcephaly, Pectus excavatu...	OMIM:235730
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendon contracture, Cere...	ORPHA:404454
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Umbilical hernia	ORPHA:2166
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Meacham Syndrome	Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas...	ORPHA:3097
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,...	ORPHA:93924
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus	OMIM:104350
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus	OMIM:620351
Trisomy 17P	Hydrocephalus	ORPHA:261290
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Microform Holoprosencephaly	Tented upper lip vermilion, Microcephaly, Cleft palate, Orofacial cleft, Short philtrum, Scoliosi...	ORPHA:280200
Culler-Jones Syndrome	Postaxial polydactyly, Midface retrusion, Cleft palate, Cleft upper lip	OMIM:615849
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly	ORPHA:531151
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Japanese Encephalitis	Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord	ORPHA:79139
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Cleft palate	OMIM:610536
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:1555
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Multiple joint contractures, Cerebellar vermis hypoplasia, Lym...	ORPHA:79318
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Esophageal varix, Recurrent sinusitis	OMIM:615688
Sturge-Weber Syndrome	Hydrocephalus, Chiari malformation	ORPHA:3205
Joubert Syndrome 37	Postaxial polydactyly	OMIM:619185
Mucopolysaccharidosis, Type Ii	Umbilical hernia, Hydrocephalus	OMIM:309900
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Abnormal foot morphology, Abnormal rib morpho...	ORPHA:1666
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Ventriculomegaly	OMIM:123790
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Cerebellar vermis hypoplasia	ORPHA:157
Feingold Syndrome 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa...	OMIM:164280
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Stillbirth, Ventriculomegaly	OMIM:259720
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	ORPHA:228308
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula	OMIM:227646
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Posteriorly rotated ears, Hearing impairment, Microcephaly, Long fingers, P...	OMIM:613355
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage	ORPHA:774
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Tapered finger, Carious teeth, Small hand, Genu valgum, Polydactyly, Cl...	OMIM:615873
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Whipple Disease	Hydrocephalus	ORPHA:3452
Monosomy 18Q	Hydrocephalus, Cerebellar hypoplasia	ORPHA:1600
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Abnormal tracheal morphology	ORPHA:83454
Classic Homocystinuria	Gastrointestinal hemorrhage, Esophageal varix, High palate	ORPHA:394
Hurler Syndrome	Umbilical hernia, Hydrocephalus	OMIM:607014
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Caroli Disease	Cholangiocarcinoma, Esophageal varix	ORPHA:53035
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment	OMIM:251800
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Ventric...	OMIM:620305
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Abnormal cerebellum morphology	ORPHA:637
Desmosterolosis	Hydrocephalus, Ventriculomegaly	OMIM:602398
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema	ORPHA:97330
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona...	ORPHA:99125
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ...	OMIM:180500
Arima Syndrome	Occipital meningocele, Esophageal varix	OMIM:243910
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly	OMIM:617011
Rabson-Mendenhall Syndrome	Mandibular prognathia, Advanced eruption of teeth, Polydactyly	ORPHA:769
Wilson Disease	Limb muscle weakness, Esophageal varix, Dysphagia, Hepatocellular carcinoma	OMIM:277900
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst	OMIM:253280
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Senior-Boichis Syndrome	Esophageal varix	ORPHA:84081
Caroli Syndrome	Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis	ORPHA:480520
Cardiac Diverticulum	Umbilical hernia, Aplasia/Hypoplasia of the sternum	ORPHA:1686
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology	OMIM:614298
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Limb Body Wall Complex	Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Anencephaly, Hydr...	ORPHA:2369
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
1Q21.1 Microdeletion Syndrome	Hydrocephalus	ORPHA:250989
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Lysosomal Acid Lipase Deficiency	Esophageal varix, Steatorrhea	ORPHA:275761
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
H Syndrome	Hydrocephalus	ORPHA:168569
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Maternal Phenylketonuria	Esophageal atresia, High palate	ORPHA:2209
Biliary, Renal, Neurologic, And Skeletal Syndrome	Recurrent respiratory infections, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Bronchial...	OMIM:619534
Mycophenolate Mofetil Embryopathy	Hydrocephalus	ORPHA:268249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Histiocytoid Cardiomyopathy	Cerebellar malformation, Hydrocephalus	ORPHA:137675
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:139399
Khan-Khan-Katsanis Syndrome	Clinodactyly, Postaxial polydactyly, Micrognathia	OMIM:618460
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly	OMIM:147791
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Neurocardiofaciodigital Syndrome	Syndactyly, Retrognathia, Polydactyly	OMIM:619869
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Hajdu-Cheney Syndrome	Umbilical hernia, Hydrocephalus, Chiari malformation	ORPHA:955
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus	OMIM:306955
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Oeis Complex	Myelomeningocele, Chiari malformation, Hydrocephalus	OMIM:258040
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Colpocephaly	OMIM:309801
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus	ORPHA:505248
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari...	ORPHA:573278
Koolen-De Vries Syndrome Due To A Point Mutation	Chiari type I malformation, Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Chiari type I malformation, Hydrocephalus, Ventriculomegaly, Spina bifida	ORPHA:363958
Costello Syndrome	Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly	OMIM:218040
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Cryptococcosis	Hydrocephalus	ORPHA:1546
Amoebiasis Due To Free-Living Amoebae	Respiratory tract infection, Abnormal spinal cord morphology, Pneumonia	ORPHA:68
Kabuki Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2322
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:457359
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Hydrocephalus	ORPHA:261337
Meningioma	Abnormal cerebellum morphology, Hydrocephalus	ORPHA:2495
Cockayne Syndrome A	Cerebellar atrophy, Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Gaucher Disease	Death in infancy, Hydrocephalus, Ventriculomegaly	ORPHA:355
Cockayne Syndrome B	Normal pressure hydrocephalus, Cerebellar calcifications, Death in childhood	OMIM:133540
22Q11.2 Deletion Syndrome	Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia	ORPHA:567
Progeroid Short Stature With Pigmented Nevi	Esophageal ulceration	OMIM:176690
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Oral-pharyngeal dysphagia, Esophageal atresia, Di...	ORPHA:506358
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Anal fissure, Flexion contracture, Gastrointestinal inflammation, Gastroe...	ORPHA:79408
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:247245
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly	OMIM:619475
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Primary Sjögren Syndrome	Lymphocytic interstitial pneumonia, Bronchitis, Abnormal spinal cord morphology, Abnormal pulmona...	ORPHA:289390
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis	ORPHA:2396
Focal Dermal Hypoplasia	Hydrocephalus, Myelomeningocele, Chiari malformation, Umbilical hernia, Spina bifida occulta	OMIM:305600
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Holoprosencephaly	ORPHA:95494
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hydrocephalus	OMIM:175780
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus	ORPHA:2556
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Umbilical hernia	ORPHA:580
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Townes-Brocks Syndrome 1	Umbilical hernia, Hydrocephalus, Holoprosencephaly	OMIM:107480
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Okamoto Syndrome	Hip dysplasia, Polydactyly	ORPHA:2729
Alström Syndrome	Recurrent upper respiratory tract infections, Esophageal varix, Recurrent pneumonia, Gastroesopha...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gli2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gli2.

No publications found that use IMPC mice or data for Gli2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gli2^{tm94228(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us