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Gene: En1 MGI:95389

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

engrailed 1

Synonyms:

En-1, engrailed-1, Mo-en.1

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 En1 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 En1 (1 diseases)
Human diseases predicted to be associated with En1 (1321 diseases)

The table below shows human diseases associated to En1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Endove Syndrome, Limb-Brain Type		Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Hypoplasia of the brainst...	OMIM:619218

The table below shows human diseases predicted to be associated to En1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Cervical Rib	Cervical ribs	OMIM:117900
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski...	ORPHA:101010
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Polydactyly, Abnormal hip bone mor...	ORPHA:294975
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Joubert Syndrome 25	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine...	ORPHA:423275
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Bardet-Biedl Syndrome 11	Hypogonadism, Polydactyly	OMIM:615988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ataxia, Spastic tetraparesis, Inability to walk, Hypoplasia of the brainstem, Cerebellar hypoplas...	OMIM:616486
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G...	OMIM:616230
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Bardet-Biedl Syndrome 5	Hypogonadism, Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Iron accumulation in substa...	OMIM:619389
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Orofaciodigital Syndrome Iii	Pectus excavatum, Postaxial hand polydactyly, Short sternum, Postaxial foot polydactyly	OMIM:258850
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Meckel Syndrome 13	Occipital encephalocele, Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:617562
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal...	ORPHA:363710
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly...	OMIM:311900
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Hypoplasia of the brainstem, Dysdia...	OMIM:224050
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Flared, irregular rib ends, Micromelia, Coxa vara	ORPHA:168555
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Polydactyly, Postaxial, Type A6	Abnormal sweat gland morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Broad ph...	OMIM:615226
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Bardet-Biedl Syndrome 10	Hypogonadism, Polydactyly	OMIM:615987
Adult Krabbe Disease	Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, So...	ORPHA:206448
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Joint hyperflexibility, Attention deficit hyperactivity disorder, Compulsive b...	ORPHA:238446
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow...	OMIM:225280
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...	ORPHA:101070
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia	OMIM:614322
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal...	OMIM:612961
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a...	OMIM:173800
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor	OMIM:608029
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hirsutism, Postaxial polydactyly	OMIM:300804
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Hyperpigmentation of the skin, Camptodactyly of finger, Short thumb,...	ORPHA:2251
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe...	OMIM:609583
Gordon Syndrome	Pectus excavatum, Finger syndactyly, Clinodactyly of the 5th finger, Camptodactyly of finger	ORPHA:376
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Aphalangy-Syndactyly-Microcephaly Syndrome	Hypoplastic fingernail, Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal...	ORPHA:1113
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ...	OMIM:610357
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Absent fifth fingernail, Toe syndactyly, Absent middle phalanx of 5th finger, Absent thumbnail, A...	OMIM:124480
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Brachydactyly	OMIM:613819
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Summitt Syndrome	Syndactyly	OMIM:272350
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio...	OMIM:302500
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th...	ORPHA:957
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus ca...	OMIM:615771
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Dermatoleukodystrophy	Premature skin wrinkling, Large hands, Progeroid facial appearance	OMIM:221790
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Abnormality of hair texture, Pectus excavatum, Postaxial hand polyd...	ORPHA:2752
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Fg Syndrome Type 1	Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnormal sternum morphol...	ORPHA:93932
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Tarp Syndrome	Finger syndactyly, Cyanosis, Single transverse palmar crease, Rocker bottom foot, Postaxial polyd...	ORPHA:2886
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Inability to walk, Unsteady gait, Hypoplasia of the brainstem, Cere...	OMIM:618273
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot, Micrognathia	OMIM:183700
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Molar tooth ...	ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Enlargement of the costochondral jun...	OMIM:271650
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly	OMIM:213010
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternu...	OMIM:620076
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe...	ORPHA:98
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Bardet-Biedl Syndrome 4	Syndactyly, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly	OMIM:615982
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S...	OMIM:602535
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxi...	ORPHA:453521
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial b...	OMIM:601559
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Aquagenic Palmoplantar Keratoderma	Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and...	ORPHA:498359
Lethal Congenital Contracture Syndrome 8	Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Facial diplegia, Hammertoe, Dis...	OMIM:616287
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Broad eyebrow, Ulnar deviation of the hand, Proximal placement of ...	OMIM:620113
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Cog7-Cdg	Cerebellar atrophy, Micrognathia, Long fingers, Jaundice, Abnormal finger morphology, Excessive w...	ORPHA:79333
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Broad-based gait, Hypoplasia of the pons, Babinski sign, Dysmetria, Ankle clonus, Hypoplasia of t...	OMIM:606854
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Atrophy/Degeneration affecting the brai...	OMIM:617954
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati...	OMIM:607565
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Oculomotor apraxia, Ataxia	OMIM:617757
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys...	OMIM:122470
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Optic atrophy, Cutis laxa, Talipes equinovarus, Camptodac...	ORPHA:79325
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens...	OMIM:617633
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Joubert Syndrome 36	Molar tooth sign on MRI, Mesoaxial hand polydactyly, Highly arched eyebrow	OMIM:618763
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Cerebellar vermis hypoplasia, Femoral ...	OMIM:616531
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Frontal balding, Attention deficit hyperactivity disorder, Premature s...	ORPHA:1942
Nicolaides-Baraitser Syndrome	Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ...	ORPHA:3051
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
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
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Preaxial polydactyly, ...	ORPHA:64754
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, 2-3 f...	ORPHA:3152
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Micrognathia, Small hand, Skin ulcer, Fi...	ORPHA:2500
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:2790
Microphthalmia, Syndromic 8	Cryptorchidism, Premature skin wrinkling, Split foot	OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem, Cere...	OMIM:613155
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Cryptorchidism, Postaxial hand p...	ORPHA:65759
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Cog5-Cdg	Cerebellar atrophy, Camptodactyly of finger, Cryptorchidism, Genu valgum, Finger clinodactyly, Ab...	ORPHA:263487
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Scarf Syndrome	Craniosynostosis, Cryptorchidism, Cutis laxa, Low posterior hairline, Joint hyperflexibility, Pec...	ORPHA:3134
Momo Syndrome	Cutis marmorata, Hyperconvex nail, Femoral bowing, Large hands, Short sternum, Abnormal bone ossi...	ORPHA:2563
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Preaxial polydactyly, Hypogonadotropic hypogonadism	ORPHA:141333
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal rib morphology, Long thorax, Halberd-shaped pelvis,...	ORPHA:2635
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly	OMIM:614845
Joubert Syndrome 20	Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Postaxial polydactyly	OMIM:612913
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Polydactyly, Dandy-Walker malformation	OMIM:614465
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th...	ORPHA:370010
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Death in infancy, Optic disc pallor, Rocker bottom foot, Micrognathia, Flexion ...	OMIM:618947
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl...	OMIM:617895
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Prominent superficial veins, Thick hair, Osteoporosis, Low anterior hai...	ORPHA:363705
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Scarf Syndrome	Barrel-shaped chest, Cryptorchidism, Low anterior hairline, Cutis laxa, Low posterior hairline, P...	OMIM:312830
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Hypogonadism, Polydactyly	OMIM:617119
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Facial palsy, Skin ulcer, Spinal dysraphism, Abnormality of bo...	ORPHA:1114
Hypomelanosis Of Ito	Syndactyly, Alopecia, Macular hypopigmented whorls, streaks, and patches, Hand polydactyly, Radia...	OMIM:300337
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Hyperconvex nai...	OMIM:269150
Momo Syndrome	Large hands, Short sternum, Hyperconvex nail, Cutis marmorata	OMIM:157980
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Long eyelashes, Spina bifida occulta, Gener...	ORPHA:1514
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal pelvic g...	ORPHA:1803
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Redundant neck skin, Micrognathia, Proxima...	ORPHA:397715
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow gr...	OMIM:602271
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ...	OMIM:113000
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm...	OMIM:270550
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Infertility, Holopros...	ORPHA:1445
Spermatogenic Failure 17	Male infertility	OMIM:617214
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim...	ORPHA:93320
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Redundant skin, Micromelia, Joint stiffness, Hypoplastic i...	ORPHA:1860
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Sparse facial hair, Progeroid facial appearance, Sparse axillary hair, Genu valgum, S...	OMIM:608154
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernume...	ORPHA:1433
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Delayed cranial suture closure, 1-3 toe syndactyly, Craniosyn...	OMIM:175700
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Dermal translucency, Hip dislocation, Cutis laxa, Talipes equinovarus, ...	OMIM:616603
Joubert Syndrome 40	Molar tooth sign on MRI, Postaxial polydactyly	OMIM:619582
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Bardet-Biedl Syndrome 16	Hypogonadism, Polydactyly	OMIM:615993
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Cervical ribs	ORPHA:66630
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the odontoid proce...	OMIM:184250
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Nail dystrophy, Nail dysplasia	OMIM:226700
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid...	OMIM:617542
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Truncal ataxia, Atrophy/Degeneration affecting the brainstem	OMIM:613612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel...	OMIM:615181
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Progeroid facial appear...	OMIM:231070
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,...	OMIM:614815
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Long eyelashes, Short palm,...	OMIM:102370
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa...	OMIM:617102
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mitten deformity...	OMIM:609638
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora...	OMIM:608940
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,...	ORPHA:3082
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Cutis marmorata, Hydrocephalus, Polydactyly, Ventriculomegaly	OMIM:602501
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Eiken Syndrome	Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip...	ORPHA:79106
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydac...	OMIM:614175
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Nail dysplasia, Camptodac...	OMIM:603543
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Ectrod...	ORPHA:1897
Joubert Syndrome 23	Polydactyly, Cerebellar dysplasia	OMIM:616490
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br...	OMIM:113300
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda...	OMIM:615986
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Pectus carinatum, Ge...	OMIM:607131
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Hydrocephalus, Op...	ORPHA:60040
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Turnpenny-Fry Syndrome	Sparse scalp hair, Thoracic kyphoscoliosis, Cerebellar vermis hypoplasia, Overlapping toe, Tapere...	OMIM:618371
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Weaver Syndrome	Deep-set nails, Finger syndactyly, Sandal gap, Camptodactyly of finger, Redundant skin, Joint sti...	ORPHA:3447
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Opitz-Kaveggia Syndrome	Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Facial wr...	OMIM:305450
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Joubert Syndrome 31	Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia	OMIM:617761
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Syndactyly, Palmoplantar keratoderma	OMIM:613576
Joubert Syndrome 33	Molar tooth sign on MRI, Syndactyly	OMIM:617767
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypoplasia of...	OMIM:610688
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, A...	OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Joubert Syndrome 17	Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Hydranencephaly, Single transverse palmar crease, 2-3 toe...	OMIM:236500
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteoscl...	OMIM:122860
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Joubert Syndrome 30	Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma...	OMIM:617622
Moebius Syndrome	Decreased testicular size, Syndactyly, Brachydactyly, Micrognathia, Clinodactyly, Split hand, Dys...	OMIM:157900
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared metaphysis, Elbow...	OMIM:184252
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Decreased number of sweat gland...	ORPHA:69087
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Sprengel anomaly, Abnormal rib morphology	ORPHA:2475
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Highly arched eyebrow, Pectus excavatu...	OMIM:619451
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly arched eyebrow, Sh...	OMIM:600325
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Molar tooth s...	OMIM:614120
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela...	OMIM:132400
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp...	ORPHA:2097
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ...	ORPHA:1520
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe...	OMIM:618161
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Short Syndrome	Joint laxity, Enlarged epiphyses, Prominent superficial veins, Micrognathia, Slender long bone, P...	OMIM:269880
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Coach Syndrome 2	Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Molar tooth sign on MRI, Agenesi...	OMIM:619111
Joubert Syndrome 27	Molar tooth sign on MRI, Polydactyly	OMIM:617120
Filippi Syndrome	Cerebellar atrophy, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneou...	OMIM:272440
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Cryptorchidism, Hydrocephalus, Short sternum, Cerebellar hypoplasia, Dandy-Walker m...	OMIM:257300
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol...	OMIM:615665
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Osteolysis involving bones o...	ORPHA:88630
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia	OMIM:184400
Joubert Syndrome 7	Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu...	OMIM:611560
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Radioulnar synostos...	OMIM:194350
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Fusion of the cerebellar hemispheres, Agenesis of cerebella...	ORPHA:59315
Monosomy 5P	Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Abnormality of bone m...	ORPHA:281
Femoral-Facial Syndrome	Short femur, Micrognathia, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal fibula morpho...	ORPHA:1988
Joubert Syndrome 15	Molar tooth sign on MRI, Preaxial polydactyly, Exencephaly	OMIM:614464
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmented skin pat...	ORPHA:1825
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, P...	ORPHA:1515
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Re...	OMIM:612940
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Brachydactyly	ORPHA:2145
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, B...	OMIM:607361
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Redundant skin, Micrognathia, Osteoarthritis, Generalized joint l...	OMIM:618000
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit...	OMIM:611390
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Prominent interphalangeal joints, Compulsive behaviors...	OMIM:135900
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Abnormality of the han...	ORPHA:1387
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo...	ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypop...	OMIM:613153
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Redundant skin, Micrognathia, Synophrys, Low anterior hairline, Coa...	OMIM:612289
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Talipes equinovarus,...	ORPHA:93298
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop...	ORPHA:1553
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Cryptor...	OMIM:312870
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Bardet-Biedl Syndrome 8	Hypogonadism, Postaxial polydactyly	OMIM:615985
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Dandy-Walker malformat...	OMIM:264090
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Donnai-Barrow Syndrome	Short sternum	OMIM:222448
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Blepharocheilodontic Syndrome 1	High anterior hairline, Cutaneous syndactyly, Neural tube defect, Small nail, Nail dysplasia, Spa...	OMIM:119580
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Progeroid facial appearance, Slender long bones with narrow diaphyses, Dense metaphys...	ORPHA:50811
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Abnormal rib morphology, Narrow chest, Bilateral single tr...	ORPHA:1703
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Hogue-Janssen Syndrome 2	Ventriculomegaly, Broad hallux, Postaxial polydactyly, Pectus excavatum, Abnormal hair whorl, Hyd...	OMIM:616362
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Short first metatarsal, Long eyel...	OMIM:613684
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Laurence-Moon Syndrome	Pigmentary retinopathy, Polydactyly, Abnormality of the hand	OMIM:245800
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Joubert Syndrome 28	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:617121
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus...	ORPHA:64755
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Cerebellar hypoplasia, Short finger	OMIM:300049
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Alopecia, Abnormal fingernail mo...	ORPHA:1647
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Abnormal rib morphology, ...	ORPHA:3404
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Hypoplastic toenails, Reduced bone mineral density, Dermatoglyphic ridg...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, Reduced bone mineral density, Dermatoglyphic ridg...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, Reduced bone mineral density, Dermatoglyphic ridg...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Reduced bone mineral density, Dermatoglyphic ridg...	ORPHA:881
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Congenital hip dislocation, Cerebellar vermis hypoplasia, Joint hypermo...	ORPHA:357058
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypogonadism, Y-sh...	OMIM:615996
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Hypoplastic ischia	OMIM:616910
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Cerebellar hypop...	ORPHA:3224
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Postaxial polydactyly	OMIM:614500
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Bell-shaped t...	ORPHA:2021
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Waardenburg Syndrome, Type 3	Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopigmente...	OMIM:148820
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,...	OMIM:123150
20P13 Microdeletion Syndrome	Finger syndactyly, Highly arched eyebrow, Synophrys, Polydactyly, Small nail, Clinodactyly, Brach...	ORPHA:313781
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry	ORPHA:231140
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Osteogenesis Imperfecta, Type Ix	Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs	OMIM:259440
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Testicu...	OMIM:601163
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Cryptorchidism, Widow's peak, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Th...	OMIM:614684
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe...	OMIM:608629
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A...	ORPHA:2963
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormal rib morphology, Abnormal fibula m...	ORPHA:3035
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydrocephalus, G...	ORPHA:220497
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Achondrogenesis, Type Ia	Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa...	OMIM:200600
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone, Stillbirth, Camptodac...	OMIM:619751
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly	OMIM:619092
Barber-Say Syndrome	Brachydactyly, Absent nipple, Sparse eyelashes, Redundant skin, Micrognathia, Sparse eyebrow, Cry...	OMIM:209885
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Hypohidrosis With Abnormal Palmar Dermal Ridges	Abnormal palmar dermal ridges, Decreased number of sweat glands	OMIM:241120
Blepharocheilodontic Syndrome 2	Distichiasis, Nail dysplasia, Cutaneous syndactyly	OMIM:617681
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Foot polydactyly	ORPHA:2155
Alkuraya-Kucinskas Syndrome	Cerebellar dysplasia, Ventriculomegaly, Overlapping fingers, Overlapping toe, Micrognathia, Hydro...	OMIM:617822
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Cardioacrofacial Dysplasia 1	Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum	OMIM:619142
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly...	OMIM:614424
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t...	OMIM:212780
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Bi...	OMIM:603194
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Postaxial polydactyly, Micrognathia, Synophrys, Low anterior hairline, Broad distal p...	OMIM:615761
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Micrognathia, Short thorax, Short foot, Narrow chest, Short palm	ORPHA:93299
Hypophosphatasia	Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology	ORPHA:436
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Syndactyly, Onion bulb formation, Myelin outfoldings	OMIM:615284
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Micrognathia, Short thorax, Abnormal rib morphology, Hip di...	ORPHA:2484
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Hirsutism, Cerebellar hypoplasia, Sparse hair, Clinodactyly, Cerebellar vermis atrophy	OMIM:618087
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia...	OMIM:615994
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,...	ORPHA:2772
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal eating behavior, Obsessive-compulsive trait, Cutaneous photosensi...	ORPHA:544254
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu...	OMIM:602875
Septooptic Dysplasia	Anterior pituitary hypoplasia, Polydactyly, Decreased response to growth hormone stimulation test...	OMIM:182230
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Isolated Klippel-Feil Syndrome	Spina bifida, Abnormal rib morphology, Low posterior hairline, Abnormal shoulder morphology, Cerv...	ORPHA:2345
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Joubert Syndrome 37	Decreased testicular size, Prominent metopic ridge, Cerebellar vermis hypoplasia, Postaxial polyd...	OMIM:619185
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal ...	ORPHA:909
Mohr Syndrome	Syndactyly, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly...	OMIM:252100
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Prematurely aged appearance, Abnormal fingertip mo...	ORPHA:90154
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, A...	ORPHA:1340
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa...	OMIM:618395
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Molar tooth sign on MRI, Short ...	OMIM:616300
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Distichiasis	ORPHA:1997
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Prematurely aged appea...	ORPHA:1318
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Coach Syndrome 3	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:619113
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Laron Syndrome	Prematurely aged appearance, Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, B...	ORPHA:633
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Abnormal hip ...	ORPHA:1486
Suleiman-El-Hattab Syndrome	Microretrognathia, Optic disc pallor, Thick eyebrow, Single transverse palmar crease, Highly arch...	OMIM:618950
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa ...	OMIM:300232
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Hand polydactyly, ...	ORPHA:2377
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
De Barsy Syndrome	Osteopenia, Dermal translucency, Congenital hip dislocation, Cerebellar vermis hypoplasia, Proger...	ORPHA:2962
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating...	OMIM:609441
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A...	ORPHA:1120
Senior-Loken Syndrome 9	Hypogonadism, Polydactyly, Hypoplasia of the femoral head, Osteopenia	OMIM:616629
Lenz-Majewski Hyperostotic Dwarfism	Redundant skin, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Hy...	ORPHA:2658
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Bell-shaped thorax, Thin ribs,...	OMIM:166210
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Oli...	ORPHA:457284
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Low posterior...	OMIM:300963
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Long toe, Sparse scalp hair, Arachnodactyly, Sparse eyelashes, Progeroid facial appea...	ORPHA:75496
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Prematurely aged appearance, Rocker bottom foo...	ORPHA:902
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyl...	OMIM:619721
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Coxa valga, Av...	ORPHA:1901
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Gapo Syndrome	Abnormal clavicle morphology, Alopecia, Prematurely aged appearance, Sparse eyelashes, Micrognath...	ORPHA:2067
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar...	OMIM:618150
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s...	OMIM:614099
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polydactyly, Talipes equinovarus	OMIM:613885
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Prematurely aged appearance, Micrognathia, Cryptorchidism, Reduced bone m...	ORPHA:2617
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydrocephalus, G...	ORPHA:220493
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Talipes equinovarus	OMIM:601389
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Hyperactivity, Single transverse palmar crease, ...	OMIM:123450
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Bilateral ta...	OMIM:618142
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Death in infancy, Postaxial polydactyly, Hydrocephalus, Optic atrophy, Hip dy...	OMIM:614576
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Progeroid facial appearance, Patchy alopecia, Cerebellar hypoplasia, Broad di...	OMIM:617763
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Limited elbow extension, Short metatarsal, Small ha...	OMIM:180870
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, Optic atrophy, Lo...	ORPHA:1252
Ritscher-Schinzel Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Missing ribs, Hy...	OMIM:220210
Bardet-Biedl Syndrome 6	Syndactyly, Pigmentary retinopathy, Postaxial polydactyly	OMIM:605231
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Abnormal rib morphology, Abnormal h...	ORPHA:2522
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Nail pits, Fine ha...	ORPHA:978
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mine...	OMIM:215140
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Chiari type I malfo...	ORPHA:3455
Aarskog-Scott Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Pectus excavatum, Cr...	ORPHA:915
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Redundant skin, Absent eyelashes, Cutaneous fin...	OMIM:200110
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat...	ORPHA:2876
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Transaldolase Deficiency	Premature skin wrinkling, Telangiectasia	ORPHA:101028
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Dysmenorrhea, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Clinodacty...	ORPHA:397590
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Polydactyly	OMIM:613464
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification of carpal bones, Blue i...	OMIM:614613
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Prematurely aged appe...	ORPHA:90153
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Alopecia, Arachnodactyly, Progeroid facial appearance, Hypoplasia of the pons...	ORPHA:412057
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger	ORPHA:2759
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha...	ORPHA:2994
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ...	OMIM:615222
Rapp-Hodgkin Syndrome	Syndactyly, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, 2-3 toe cu...	OMIM:129400
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Broad long bones, Short tubular bones of the hand, Short ...	OMIM:200610
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling	OMIM:617950
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hydrocephalus, Abnormal rib morphology, Sprengel anomaly, Cutaneous photosensitivity,...	ORPHA:2180
47,Xyy Syndrome	Male infertility, Cryptorchidism, Hydrocephalus, Abnormal brainstem morphology, Oligozoospermia, ...	ORPHA:8
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Prominent superficial veins, Prematurely aged appearance, Recurrent fractures, Mic...	OMIM:601812
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thick eyebrow, Cutis marmorata, Single transverse palmar crease, Highly arched eyebro...	OMIM:614701
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
17Q12 Microduplication Syndrome	Finger syndactyly, Synophrys, Toe syndactyly	ORPHA:261272
Larsen Syndrome	Finger syndactyly, Short nail, Large joint dislocations, Craniosynostosis, Cryptorchidism, Access...	ORPHA:503
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Widow's peak, Hand polydactyly, Broad thumb	OMIM:239710
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C...	OMIM:208500
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno...	ORPHA:1488
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Low anterior hairline, Hypoplasia of the brainstem, Dandy-Walk...	OMIM:605039
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar creas...	OMIM:305400
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail morphology...	ORPHA:1908
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs	ORPHA:1797
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Highly arched eyebrow, Cryptorchidism, Hypoplasia of the brainstem, Short 5th finge...	ORPHA:500159
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o...	OMIM:619562
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly, Thick eyebrow	OMIM:619736
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm	OMIM:244460
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,...	ORPHA:1452
Arthrogryposis, Distal, Type 3	Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p...	OMIM:114300
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Dysphagia, Triangular shaped dist...	ORPHA:73230
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Hyperactivity, Restlessness, Abnormality of the hand, Aggressive behavior, Cryptorchi...	ORPHA:369891
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Sp...	OMIM:600987
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ...	ORPHA:2332
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Joint stiffness, Abnormal thumb morphology, Pectus excav...	ORPHA:3242
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Small hand, Low anterior hairline, Thin eyebrow, Sparse hair...	ORPHA:1787
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Micrognathia, Osteoarthritis, Reduced bone mineral density, ...	ORPHA:740
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Brittle hair, Redundant skin, Joint hypermobility, Abnormality of hai...	OMIM:219200
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Cryptorchidism, Shor...	ORPHA:2256
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus...	OMIM:616546
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Hypoplastic toenails,...	ORPHA:261344
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Flat acetabular roof, Cone-sha...	OMIM:184260
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:600081
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Prematurely aged app...	ORPHA:2959
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
3C Syndrome	Finger syndactyly, Ventriculomegaly, Hypoplastic fingernail, Death in infancy, Micrognathia, Miss...	ORPHA:7
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin, Sparse lower eyelashes, Highly arched eyebrow, Abnor...	ORPHA:1807
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Death in infancy, Micrognathia, Jaundice, Low anterior hairline, Hypertrichos...	OMIM:608779
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi...	ORPHA:958
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Thoracic hypoplasia, Decreased...	OMIM:616897
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi...	OMIM:617527
Short Syndrome	Alopecia, Excessive wrinkled skin, Joint hyperflexibility, Short palm, Sparse hair, Brachydactyly	ORPHA:3163
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
Waardenburg Syndrome Type 3	Camptodactyly of finger, White hair, Abnormal finger morphology, Cutaneous finger syndactyly, Abn...	ORPHA:896
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Limitation of joint ...	ORPHA:3255
Congenital Sialidosis Type 2	Hydrocephalus, Optic atrophy, Telangiectasia, Polydactyly, Generalized hypertrichosis, Umbilical ...	ORPHA:93400
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Prominent superficial veins, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow...	OMIM:614438
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Brit...	OMIM:608612
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ...	OMIM:615673
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Scapular winging, Congenital hip dislocation, Redundant skin, Prog...	OMIM:278250
Kinsship Syndrome	Osteopenia, Death in infancy, Ventriculomegaly, Single transverse palmar crease, Coxa valga, Micr...	OMIM:619297
Endove Syndrome, Limb-Brain Type	Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Hypoplasia of the brainst...	OMIM:619218
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Sparse scalp hair, Proximal placement of thumb, Sparse eyebrow, Spotty h...	OMIM:615789
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Palmar hyperlinea...	OMIM:617337
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Brachydactyly, Micrognathia, Thin ribs	OMIM:618265
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Congenital hip dislocation, Redundant skin, Thick hair, Generalized joint la...	ORPHA:357074
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Silver-Russell Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Short distal phalanx of the 5t...	OMIM:180860
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femo...	OMIM:600920
Ogden Syndrome	Congenital hip dislocation, Redundant neck skin, Redundant skin, Micrognathia, Clinodactyly of th...	OMIM:300855
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Elbow contracture, Small hand, Antecubital pterygium, Mela...	OMIM:616489
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Hyperactivity, Sandal gap, Craniosynostosis, Aplasia/Hypopla...	ORPHA:254346
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Sclerosteosis 1	Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly...	OMIM:269500
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of ce...	OMIM:213300
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Cutis marmorata, Slow-growing hair, Progeroid facial appearance, Optic nerve hypopl...	OMIM:300953
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metaca...	OMIM:169400
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Hypopla...	ORPHA:246
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Holzgreve Syndrome	Hand polydactyly, Abnormal rib morphology, Abnormal morphology of ulna, Abnormal metacarpal morph...	ORPHA:2167
Curry-Jones Syndrome	Ventriculomegaly, Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Pre...	OMIM:601707
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Alopecia totalis, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Ring Chromosome 12 Syndrome	Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, Dystrophic toenail, Symphalangism of ...	ORPHA:1439
Xylt1-Cdg	Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ...	ORPHA:370930
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Avascular necrosis of the capital fe...	ORPHA:77258
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Optic atrophy,...	OMIM:614800
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Adams-Oliver Syndrome 6	Hypoplastic toenails, Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Chiari type I malforma...	OMIM:101200
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Brittle hair, Micrognathia, Aplasia/Hypoplasia of the cerebellum, S...	ORPHA:2710
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, Pectus carinatum, C...	OMIM:224690
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Hip...	OMIM:619762
Trichothiodystrophy	Osteopenia, Ridged nail, Multiple joint contractures, Brittle hair, Thoracic kyphosis, Tiger tail...	ORPHA:33364
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hy...	OMIM:608091
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Monosomy 9Q22.3	Hyperactivity, Ovarian fibroma, Palmar pits, Pectus excavatum, Hydrocephalus, Abnormal rib morpho...	ORPHA:77301
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial...	OMIM:603671
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Highly arched eyebrow, Bilateral...	ORPHA:2754
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Dermal translucency, Redundant neck skin, Prematurely aged appearance, ...	ORPHA:90348
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Cockayne Syndrome B	Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Square p...	OMIM:133540
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs	OMIM:604919
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Hydrocephalus, Knee flexion contracture, Ventriculomegaly	OMIM:603387
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Tapered finger, Hypop...	ORPHA:544488
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Facial palsy, Limitation of joint mobility, Abnormal rib morphology, P...	ORPHA:3068
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Sparse eyelashes, ...	ORPHA:178303
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia ...	OMIM:216360
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad hallux, Short femoral neck...	OMIM:618019
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint	ORPHA:2234
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Joubert Syndrome 8	Occipital encephalocele, Ataxia, Oculomotor apraxia, Hypertonia, Molar tooth sign on MRI	OMIM:612291
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Abnormal t...	OMIM:302960
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Cerebellar dysplasia	ORPHA:457240
Three M Syndrome 2	Scapular winging, Short thorax, Thin ribs, Pectus carinatum, Slender long bone, Short 5th finger,...	OMIM:612921
Basal Cell Nevus Syndrome 1	Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephal...	OMIM:109400
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Small nail	OMIM:615631
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ...	OMIM:210710
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Supernumerary nipple, Cryptorchidi...	ORPHA:217346
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Molar tooth sign on MRI	ORPHA:2318
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Alo...	OMIM:614008
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Highly arc...	ORPHA:1001
Recon Progeroid Syndrome	Joint laxity, Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Hyperconv...	OMIM:620370
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Severe Congenital Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ...	ORPHA:171430
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Upper limb asymmetry, Ovarian neoplasm, Reduced bone mineral density, Excess...	ORPHA:137608
Trisomy 13	Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology,...	ORPHA:3378
Cockayne Syndrome	Cerebellar atrophy, Reduced subcutaneous adipose tissue, Dry hair, Optic disc pallor, Peripheral ...	ORPHA:191
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Synophrys, Palmoplantar hyper...	ORPHA:3253
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Absent toenail, A...	ORPHA:158687
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Abnormal hair pattern, Cryptorchidism, Small hand, Coarse hair,...	ORPHA:1786
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Absent toe, Sp...	ORPHA:974
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial syno...	OMIM:251230
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Sparse eyebrow, Cryptorchidism, Short palm	ORPHA:73246
Down Syndrome	Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Prematurely aged appearance...	ORPHA:870
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Hypoplastic th...	ORPHA:1692
Adnp Syndrome	Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger morphology, Compulsiv...	ORPHA:404448
Methylcobalamin Deficiency Type Cble	Syndactyly, Hydrocephalus, Osteoporosis, Hypoplasia of the brainstem, Clinodactyly, Ventriculomegaly	ORPHA:2169
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A...	OMIM:616914
Slc35A2-Cdg	Cerebellar atrophy, Abnormal midbrain morphology, Spastic tetraparesis, Inability to walk, Atroph...	ORPHA:356961
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Highly arche...	OMIM:617751
Cockayne Syndrome A	Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Square p...	OMIM:216400
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hip dysplasia, Polydactyly, Craniosynostosis	ORPHA:531151
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Hypoplastic toenails, Dystrophic toenail, Absent toenail	OMIM:616028
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Abnormality of the elbow, Hip dislocation, Short middle phalanx of f...	ORPHA:1005
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell...	OMIM:114290
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Foot polydactyly	ORPHA:3004
2Q31.1 Microdeletion Syndrome	Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, ...	ORPHA:251014
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Highly arched eyebrow, Micrognathia, Cryptorchidism, Low anterior hairline...	ORPHA:404440
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Syndactyly, Hypoplasia of the pons, Pectus carinatum, Ventriculomegaly	OMIM:616430
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Micrognathia, Knee flexio...	OMIM:151050
Oliver Syndrome	Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Elbow flexi...	ORPHA:2920
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Hyperactivity, Pectus excavatum, Cryptorchidism, Broad palm, Hypoplastic nipples, Cli...	OMIM:618505
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Curly eyelashes, Osteoporosis,...	ORPHA:1517
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili...	OMIM:611717
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal diaphysis morphology, Overtub...	ORPHA:85184
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Low posterior hairline, Abnormal hip bone morphology,...	ORPHA:1323
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Highly arched eyebrow, Pectus excavatum, Long fingers, Synophrys, Cryp...	OMIM:618316
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Faci...	OMIM:607323
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Cerebellar hypoplasia, Nai...	ORPHA:3322
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus...	ORPHA:2311
Choanal Atresia	Cyanosis, Craniosynostosis, Polydactyly, Choking episodes, Tracheomalacia	ORPHA:137914
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m...	ORPHA:221120
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Chiari t...	OMIM:182212
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Tapered finger, Cryptorchidism, Sy...	OMIM:613792
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b...	ORPHA:83
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor w...	OMIM:225400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Cryptorchidism, Postaxial hand polydactyly, Pig...	ORPHA:110
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy	ORPHA:276183
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Seckel Syndrome	Sparse scalp hair, Sandal gap, Prematurely aged appearance, Craniosynostosis, Micrognathia, Cone-...	ORPHA:808
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Inability to walk, Oculomotor apraxia, Ataxia	OMIM:617563
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Hypogonadism	OMIM:615989
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, Nail ...	ORPHA:139471
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Preaxial polydactyly, Stereotypical hand wringing, Abnormal t...	ORPHA:163681
X Small Rings	Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Osteoporosis, 2-3 ...	ORPHA:96201
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Micrognathia	OMIM:601076
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian morphology, Narrow che...	ORPHA:95699
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc...	ORPHA:783
Mend Syndrome	Microretrognathia, Hyperactivity, Redundant neck skin, Overlapping toe, Broad hallux, Micrognathi...	OMIM:300960
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Aganglionic megacolon, Sparse eyebrow, Ventriculomegaly	ORPHA:66629
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Elbow flexion contract...	ORPHA:1145
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Hyperactivity, Multiple joint contractures, Arachnodactyly, Toe...	ORPHA:464306
Triploidy	Finger syndactyly, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, N...	ORPHA:3376
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoul...	OMIM:274000
Hamamy Syndrome	Osteopenia, Micrognathia, Sparse hair, Clinodactyly of the 5th finger, Abnormal number of hair wh...	OMIM:611174
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology	ORPHA:1300
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel...	OMIM:610188
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Thick hair, Tapered finger, Abnormal eyelash morph...	ORPHA:193
Incontinentia Pigmenti	Abnormal hand morphology, Abnormal toenail morphology, Spina bifida occulta, Abnormality of the n...	ORPHA:464
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hyperactivity, Overlapping toe, Single transverse palmar crease, Tapered finger, M...	OMIM:619148
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Postaxial polydactyly, Aggressive behavior, Cryptorchidism, Synophrys	OMIM:615824
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Missing ribs, Micrognathia, Split h...	OMIM:200980
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Crypto...	OMIM:176270
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Ta...	ORPHA:435938
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Sparse eyelashes, Optic nerve hypo...	OMIM:605627
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Preaxial polyd...	OMIM:243605
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi...	OMIM:613848
Lymphangiectasia, Intestinal	Prominent floating ribs	OMIM:152800
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Proximal placement of thumb, Micrognathia, Cryptorchidism, Cereb...	OMIM:217980
Kbg Syndrome	Vertebral fusion, Syndactyly, Single transverse palmar crease, Cryptorchidism, Synophrys, Low ant...	OMIM:148050
Geroderma Osteodysplastica	Prematurely aged appearance, Recurrent fractures, Redundant skin, Osteoporosis, Hip dislocation, ...	ORPHA:2078
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ...	OMIM:271640
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Occipital encephalocele, Posta...	OMIM:619879
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Pectus carinatum, Ge...	ORPHA:582
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele	OMIM:612285
Gracile Bone Dysplasia	Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull...	OMIM:602361
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:241530
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis	OMIM:227260
Ataxia-Telangiectasia	Hypopigmentation of hair, Telangiectasia of the skin, Prematurely aged appearance, Polycystic ova...	ORPHA:100
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Short palm, Neonatal dea...	OMIM:269860
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin...	OMIM:606851
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Frontometaphyseal Dysplasia 1	Carpal synostosis, Scapular winging, Bowing of the long bones, Arachnodactyly, Interphalangeal jo...	OMIM:305620
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal me...	ORPHA:2050
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Pectus excavatum, Cryptorch...	ORPHA:2834
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, 2-3 finger syndactyly	ORPHA:1338
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Ventriculomegaly, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocatio...	OMIM:300968
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Op...	ORPHA:87
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the e...	ORPHA:3015
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Cerebellar vermis hypoplasia, Micrognathia, Self-injurious behavior, Tali...	ORPHA:314679
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Flexion contracture, Knee flexion contracture, Intercrural pterygium...	OMIM:265000
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Micrognathia, Femoral bowing, Short long bone, Narrow ch...	OMIM:617022
Microphthalmia, Lenz Type	Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finger, Cryptorchidism, Optic d...	ORPHA:568
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br...	OMIM:619306
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Preaxial polydact...	OMIM:617925
Craniometadiaphyseal Dysplasia	Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Absent paranasal sinuse...	OMIM:269300
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Death in infancy, Multiple rib fractures, Femur fracture, Hy...	OMIM:612301
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Holoprosencephaly, Neo...	OMIM:146510
Craniofrontonasal Syndrome	Ridged nail, Sprengel anomaly, Clinodactyly of the 5th finger, Joint laxity, Split nail, Broad ha...	OMIM:304110
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Cubitus valgus	OMIM:104350
Mucopolysaccharidosis, Type Iva	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of ...	OMIM:253000
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha...	ORPHA:363618
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, 2-5 finger syndactyly, Microretrognathia, Multiple joint contractures, Optic ...	ORPHA:468631
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, S...	ORPHA:2463
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplas...	OMIM:276820
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Highly arched eyebrow, Thick hair, Prea...	ORPHA:261318
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Synophrys, Hypoplastic vertebral bodies, Coarse hair, Opposit...	OMIM:252940
Constricting Bands, Congenital	Abnormal rib cage morphology, Hand polydactyly, Talipes equinovarus, Syndactyly	OMIM:217100
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Sparse scalp hair, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion co...	OMIM:620029
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Sparse scalp hair, Overlapping toe, Single transverse palmar crease, Aggressiv...	ORPHA:464738
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Opt...	ORPHA:667
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low anterior hairline, Prominent fingertip pads, Self-mutilation, Prematurely aged appearance, Ta...	OMIM:619950
Pyknoachondrogenesis	Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
Hurler Syndrome	Death in infancy, Abnormal clavicle morphology, Camptodactyly of finger, Hydrocephalus, Limitatio...	ORPHA:93473
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Micrognathia, Thin ribs	OMIM:617952
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Compulsive beh...	OMIM:615873
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Abnormal fingernail morphology, Micrognathia,...	ORPHA:989
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum	ORPHA:63260
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered finger, Metatarsus...	ORPHA:2215
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Joint stiffness, Epiphyseal deformities of tubular bo...	OMIM:253010
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cerebellar hyp...	OMIM:616038
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Progeroid facial appearance, Joint stiffness, Decreased fibular diameter,...	OMIM:619127
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia, Missing ribs, Cryptorchidism,...	ORPHA:3301
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Sparse axillary hair, Aplasia/Hypoplasia of the p...	OMIM:613803
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Prominent sternum, ...	ORPHA:254528
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact...	ORPHA:69085
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Short femur, Recurrent fractures, M...	OMIM:618188
Ablepharon Macrostomia Syndrome	Absent eyebrow, Toe syndactyly, Redundant skin, Camptodactyly of finger, Abnormal hair pattern, A...	ORPHA:920
Japanese Encephalitis	Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunction, Abnormal mi...	ORPHA:79139
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Short thumb...	OMIM:263750
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Metaphyseal sclerosis, Enlargement of the costochondral junction, Metaphyse...	OMIM:260400
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crease, Rock...	OMIM:272950
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Bilateral cryptorchidism, L...	OMIM:617746
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Split ...	ORPHA:2008
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellu...	ORPHA:818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Hypopla...	OMIM:613150
Lhermitte-Duclos Disease	Hydrocephalus, Enlarged cerebellum, Ataxia	ORPHA:65285
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c...	ORPHA:79474
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Syndactyly, Optic disc pallor, Cerebellar vermis hypoplasia, Sparse eye...	OMIM:619869
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Pancreatic cysts, Hydrocephalus, Myelomeningoc...	OMIM:311200
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol...	ORPHA:666
Focal Dermal Hypoplasia	Ridged nail, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, Foo...	OMIM:305600
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Legius Syndrome	Hyperactivity, Neurofibroma, Ovarian neoplasm, Diaphyseal dysplasia, Chiari type I malformation, ...	ORPHA:137605
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumera...	ORPHA:1071
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydac...	OMIM:209900
Focal Dermal Hypoplasia	Finger syndactyly, Alopecia, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatog...	ORPHA:2092
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Kagami-Ogata Syndrome	Long clavicles, Coxa valga, Micrognathia, Long fingers, Thin ribs, Bell-shaped thorax, Limb under...	OMIM:608149
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Nail dysplasia, Short phalanx of fing...	OMIM:600092
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs	OMIM:619698
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Synophrys, Flexion contracture, Reduced bone mineral density, Coars...	ORPHA:581
Hallermann-Streiff Syndrome	Micrognathia, Metaphyseal widening, Sparse hair, Hyperactivity, Spina bifida, Sparse eyebrow, Cry...	OMIM:234100
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia	ORPHA:3000
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly	OMIM:616307
Kid Syndrome	Cerebellar vermis hypoplasia, Sparse eyelashes, Progeroid facial appearance, Equinus calcaneus, C...	ORPHA:477
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Aplasia/Hypoplasia of the sternum...	OMIM:219000
Acquired Partial Lipodystrophy	Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Micrognathia, Squared iliac bone...	OMIM:611209
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Flaring of lower rib cage, Hypoplasia of the odontoid process, Metaphyseal...	OMIM:250250
Noonan Syndrome With Multiple Lentigines	Scapular winging, Pectus excavatum, Cryptorchidism, Pectus carinatum, Excessive wrinkled skin, Sp...	ORPHA:500
Au-Kline Syndrome	Overlapping toe, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Coxa valga, ...	OMIM:616580
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, Pectus carinatum, Wrist flexion contr...	ORPHA:800
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Prune Belly Syndrome	Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus	ORPHA:2970
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi...	ORPHA:794
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Tibial bowing, Thin ribs, Slender long bone	OMIM:259420
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Aganglionic megacolon, Postaxial ha...	OMIM:174300
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse ey...	OMIM:613610
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Postaxial polydactyly, Highly arched eyebrow, Trichiasis, Micrognat...	OMIM:618460
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Communicating hydrocephalus, Cerebellar atrophy, Thickened ribs, Optic ...	ORPHA:309282
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Ocu...	OMIM:619476
Retinitis Pigmentosa 74	Pigmentary retinopathy, Polydactyly	OMIM:616562
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Molar tooth sign on MRI, Dandy-Walker malformation, Syndac...	OMIM:249000
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger...	OMIM:268305
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Joint laxity, Syndactyly, Arachnodac...	OMIM:610168
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Micrognat...	OMIM:615948
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Arterial Tortuosity Syndrome	Arachnodactyly, Long palm, Craniosynostosis, Rocker bottom foot, Coxa valga, Avascular necrosis o...	ORPHA:3342
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia...	ORPHA:2769
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Abnormal midbrain morphology, Tapered finger, Hypoplasia of the ...	ORPHA:444072
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial b...	ORPHA:96334
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo...	ORPHA:2907
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Flexion contracture, Low...	OMIM:180849
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Thick hair, Onychauxis, Low anterior hairl...	ORPHA:769
Aicardi Syndrome	Cerebellar vermis hypoplasia, Block vertebrae, Proximal placement of thumb, Spina bifida, Missing...	OMIM:304050
Multiple Pterygium Syndrome, X-Linked	Micrognathia, Short finger, Thin ribs	OMIM:312150
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Sparse lateral eyebrow	ORPHA:314655
Occipital Horn Syndrome	Joint laxity, Short humerus, Orthostatic hypotension, Redundant skin, Pelvic bone exostoses, Coxa...	OMIM:304150
Culler-Jones Syndrome	Cryptorchidism, Hypogonadism, Postaxial polydactyly	OMIM:615849
3Mc Syndrome 3	Highly arched eyebrow, Cryptorchidism, Preaxial polydactyly, Radioulnar synostosis, Clinodactyly	OMIM:248340
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Joint stiffness, Hypoplasia of the odontoid process, Metaphyseal widening, ...	OMIM:253200
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Dandy-Walker malformation, Fi...	OMIM:256520
Arterial Tortuosity Syndrome	Joint laxity, Arachnodactyly, Progeroid facial appearance, Micrognathia, Pectus excavatum, Flexio...	OMIM:208050
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Bloom Syndrome	Syndactyly, Decreased fertility in females, Cryptorchidism, Spotty hypopigmentation, Azoospermia,...	OMIM:210900
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Broad eyebrow, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Cr...	OMIM:616975
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Widow'...	OMIM:227330
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decre...	ORPHA:95494
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Short phalan...	OMIM:263650
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Sparse scalp hair, Orthostatic hypotension, Decreased adipos...	OMIM:606721
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Slow-growing hair, Decreased ...	ORPHA:1896
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Congenital contracture, Wrist flexion contracture, Elbow ankylos...	OMIM:208150
Orofaciodigital Syndrome Type 1	Finger syndactyly, Alopecia, Brittle hair, Tarsal synostosis, Micrognathia, Pancreatic cysts, Pre...	ORPHA:2750
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Trisomy 18	Microretrognathia, Camptodactyly of finger, Spina bifida, Cryptorchidism, Postaxial hand polydact...	ORPHA:3380
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M...	ORPHA:68
Mucopolysaccharidosis Type 6	Broad ribs, Abnormal metaphysis morphology, Epiphyseal dysplasia, Genu valgum	ORPHA:583
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B...	OMIM:300373
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypertrichosis, Short long bone, Dysgenesis of the ...	OMIM:619479
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Sparse eyebrow, Unilateral brac...	ORPHA:1521
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Narrow pelvis b...	ORPHA:96061
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Low anterior hai...	OMIM:614976
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Small nail	OMIM:614520
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Micrognathia, Flexion contracture, Increased susceptibility to fract...	ORPHA:435628
Multiple Pterygium Syndrome, Lethal Type	Micrognathia, Short finger, Thin ribs	OMIM:253290
Autosomal Recessive Robinow Syndrome	Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single transverse palma...	ORPHA:1507
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Pectus excavatum, Finger syndactyly, Asymmetry of the thorax, Genu varum	ORPHA:1969
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchidism, Limit...	ORPHA:2990
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Short tibia, Adactyly, Broad first metatarsal, Posta...	ORPHA:2751
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Ventriculomegaly, Overlapping toe, Proximal placement of thumb, Tapered finge...	ORPHA:487796
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Abnormal repetitive mannerisms, Joint laxity, Fac...	OMIM:619325
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal rib morphology, Missing ribs	ORPHA:1834
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ...	OMIM:243910
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Impulsivity, Abnormality of hair texture, Micrognathi...	ORPHA:73223
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Aicardi Syndrome	Block vertebrae, Missing ribs, Optic disc coloboma, Small hand, Rib fusion, Optic atrophy, Hip dy...	ORPHA:50
Charge Syndrome	Aplasia/Hypoplasia of the cerebellum, Highly arched eyebrow, Facial palsy, Aqueductal stenosis, C...	ORPHA:138
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Micrognathia, Proximal upper li...	ORPHA:280365
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Redund...	OMIM:216340
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora...	OMIM:610915
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Short eyelashes, Na...	OMIM:612731
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem...	ORPHA:480880
Pseudoxanthoma Elasticum	Telangiectasia of the skin, Abnormal thorax morphology, Lack of skin elasticity, Excessive wrinkl...	ORPHA:758
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Cryptorchidism, Abnormal r...	ORPHA:887
Cole-Carpenter Syndrome 2	Pectus excavatum, Microretrognathia, Narrow iliac wing, Thin ribs	OMIM:616294
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Ventriculomegaly, Toe syndactyly, Optic nerve aplasia, Anterior pituitary hypo...	ORPHA:264200
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Decreased skull...	ORPHA:1662
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Abnormal to...	ORPHA:268261
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Hydrocephalus, Clubbing, Abnormal sperm motility	ORPHA:244
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Spina bifida, Missing ...	ORPHA:2308
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Abnormal rib morphology, Short foot, Thickened cortex of long bones, Broad femoral ne...	ORPHA:488434
Pallister-Hall Syndrome	Gonadotropin deficiency, Holoprosencephaly, Paroxysmal bursts of laughter, Microretrognathia, Mes...	ORPHA:672
Scleromyxedema	Aged leonine appearance, Abnormality of the hand, Dysphagia, Generalized abnormality of skin, Abn...	ORPHA:167635
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor...	ORPHA:1974
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Cutis marmorata, Single...	OMIM:303600
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Hydrocephalus, Optic atrophy, Dry skin, Urticaria, Cutaneous photose...	ORPHA:220295
Classical Ehlers-Danlos Syndrome	Osteopenia, Striae distensae, Orthostatic hypotension, Prematurely aged appearance, Phalangeal di...	ORPHA:287
Degcags Syndrome	Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature ...	OMIM:619488
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Redundan...	OMIM:613177
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt...	OMIM:227650
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Synophrys, Schwannoma,...	ORPHA:96123
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ectodermal dysplasia, Scaling skin, Periungual erythema, Atrichia, Death in childhood, Neonatal d...	OMIM:308205
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Slow-growing scalp...	OMIM:601345
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Optic neuropathy, Broad ischia, Optic atrophy, Diaphys...	OMIM:619727
Spondylocostal Dysostosis 4, Autosomal Recessive	Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax	OMIM:613686
Mullegama-Klein-Martinez Syndrome	Facial palsy, Curly eyelashes, Micrognathia, Low anterior hairline, Polydactyly, Attention defici...	OMIM:301022
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Chiari type I malformation, Compulsive behaviors, Abnormal repetitive mannerisms, J...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Chiari type I malformation, Compulsive behaviors, Abnormal repetitive mannerisms, J...	ORPHA:353277
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Clinodactyly of the 5th finger, Sh...	ORPHA:52
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Clinodactyly of the 5th finger, Dandy-Walker malformation, Vertebral ...	ORPHA:373
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs, Micrognathia	OMIM:614857
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cryptorchidism, Pigmentary retinopathy, Camptodactyly, Absent palma...	OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Micrognathia, Meningoencephalo...	OMIM:236670
Fraser Syndrome 3	Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth	OMIM:617667
Xfe Progeroid Syndrome	Prematurely aged appearance, Optic atrophy, Death in adolescence, Cutaneous photosensitivity, Dry...	OMIM:610965
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, Camptodactyly, ...	OMIM:247200
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Cryptorchidism, Mesomelia, Long eyelashes, Camptodactyly, Clinodactyly, Short phalanx...	OMIM:616894
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Progeroid facial appearance, Decreased nerve conduction velocity, Optic atrop...	OMIM:610651
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Progeroid facial appearance, Sparse...	OMIM:256040
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, Postaxial foot ...	ORPHA:2473
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Streak ovary, Joint stiffness, Micrognathia, Cryptorchidism, Colpocephaly, Chiari mal...	OMIM:618820
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ...	ORPHA:98889
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Decreased response to growth hormone stimulation te...	ORPHA:96182
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiec...	OMIM:615919
Doors Syndrome	Adrenal hyperplasia, Abnormal finger morphology, Low anterior hairline, Absent fingernail, Tripha...	ORPHA:79500
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, A...	ORPHA:2211
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Werner Syndrome	Prematurely aged appearance, Progeroid facial appearance, Osteoporosis, Reduced bone mineral dens...	OMIM:277700
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Micrognathia, Red...	ORPHA:1556
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop...	OMIM:617063
Hartsfield Syndrome	Syndactyly, Craniosynostosis, Alobar holoprosencephaly, Cryptorchidism, Lobar holoprosencephaly, ...	OMIM:615465
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmentation, Tripha...	ORPHA:84
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Po...	ORPHA:453504
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology	ORPHA:1163
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Po...	ORPHA:352665
Weill-Marchesani Syndrome 1	Broad palm, Broad phalanges of the hand, Broad ribs, Broad metacarpals, Broad metatarsal, Brachyd...	OMIM:277600
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Absen...	ORPHA:284160
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Thin ribs	ORPHA:169189
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm...	ORPHA:79345
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Proximal 16P11.2 Microdeletion Syndrome	Hand polydactyly, Rib fusion, Micrognathia	ORPHA:261197
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Cerebral arteriovenous malformation	ORPHA:137667
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, Fragile nail...	OMIM:150230
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Profu...	ORPHA:1708
Inhalational Anthrax	Abnormal sweat gland morphology	ORPHA:247257
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Erythema, Abnormal rib morpholog...	ORPHA:2908
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Micrognat...	ORPHA:97360
Myhre Syndrome	Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Short palm, Large iliac wi...	ORPHA:2588
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Patellar aplasia, Ab...	ORPHA:2554
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, ...	ORPHA:642
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Short palm, Clinodactyly of the 5th finger...	ORPHA:3107
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han...	OMIM:236700
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Sparse axillary hair, Sparse pubic hair, 3-4 finger cutaneous syndactyly, 2-3 ...	OMIM:181270
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ...	OMIM:610682
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Long eyelashes, Rhizomelia, 2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:615877
Lethal Congenital Contracture Syndrome 5	Thin ribs	OMIM:615368
Duplication Of The Pituitary Gland	Encephalocele, Lower limb spasticity, Agenesis of corpus callosum, Abnormal midbrain morphology	ORPHA:314621
Mucopolysaccharidosis, Type Iiib	Thickened ribs	OMIM:252920
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Nail-biting, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Aggr...	OMIM:620330
Mucopolysaccharidosis, Type Iiia	Thickened ribs	OMIM:252900
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino...	OMIM:620025
Weill-Marchesani Syndrome 2	Short metacarpal, Short metatarsal, Broad palm, Elbow flexion contracture, Short finger, Broad ph...	OMIM:608328
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Aggressive behavior, Flexion contracture, Polydactyly	ORPHA:17
Williams Syndrome	Osteopenia, Redundant skin, Micrognathia, Hypoplastic toenails, Compulsive behaviors, Clinodactyl...	ORPHA:904
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Micrognathia, Pectus excavatum, Long fi...	OMIM:213980
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Ventriculomegaly, Multiple joint cont...	ORPHA:99646
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi...	ORPHA:1587
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs	ORPHA:1394
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ...	OMIM:614941
Cog1-Cdg	Osteopenia, Cerebellar vermis hypoplasia, Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Poste...	ORPHA:263508
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse...	OMIM:149730
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Death in...	ORPHA:534
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Monosomy 9P	Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the tarsal bones, C...	ORPHA:261112
Dubowitz Syndrome	Syndactyly, Sparse scalp hair, Hyperactivity, Single transverse palmar crease, Micrognathia, Cryp...	OMIM:223370
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Kagami-Ogata Syndrome	Micrognathia, Coxa valga, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254519
Lacrimoauriculodentodigital Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Sparse hair, Phocomelia, Wrist flexion c...	OMIM:268300
Myotubular Myopathy With Abnormal Genital Development	Thin ribs	OMIM:300219
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Absent nipple, Thoracolumbar kyphoscoliosis, Craniosynostosis, ...	ORPHA:1299
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Bilobate ga...	OMIM:261540
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, Broad ribs, Bro...	OMIM:301066
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Preaxial hand po...	OMIM:107480
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Short ribs, Missing ribs, Thin ribs	OMIM:271520
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Vascular Ehlers-Danlos Syndrome	Alopecia, Congenital hip dislocation, Prematurely aged appearance, Redundant skin, Telangiectasia...	ORPHA:286
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse...	OMIM:224900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Flaring of rib cage	OMIM:612852
Myhre Syndrome	Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short long bone, Short fin...	OMIM:139210
Phace Syndrome	Dandy-Walker malformation, Cerebellar hypoplasia, Cerebral arteriovenous malformation	ORPHA:42775
Mucopolysaccharidosis, Type Iiic	Thickened ribs	OMIM:252930
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Foot joint contracture, Progeroid facial appearance, Cryptor...	ORPHA:90321
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Ch...	ORPHA:261537
Proteus Syndrome	Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of the wrist, Abnormality...	ORPHA:744
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Progeroid facial appearance	OMIM:300578
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Parkes Weber Syndrome	Myelopathy, Cerebral arteriovenous malformation	ORPHA:90307
Fraser Syndrome 2	Hypoplasia of the thymus, Low anterior hairline, Cutaneous syndactyly	OMIM:617666
Complete Androgen Insensitivity Syndrome	Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor...	ORPHA:99429
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Highly arched eyebrow, Cryptorchidism, Short toe, Widow's peak, Clinodactyly o...	ORPHA:1519
Fryns Syndrome	Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo...	OMIM:229850
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Micrognath...	ORPHA:280
Cockayne Syndrome Type 2	Cryptorchidism, Flexion contracture, Progeroid facial appearance	ORPHA:90322
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal stenosis...	OMIM:619534
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Preaxial h...	ORPHA:2753
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Ch...	ORPHA:261552
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Gm1-Gangliosidosis, Type I	Hypoplastic vertebral bodies, Thickened ribs	OMIM:230500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Myoclonus, Cerebellar hypoplasi...	OMIM:253280
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:214800
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Microphthalmia, Syndromic 1	Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Aggre...	OMIM:309800
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Ab...	ORPHA:2152
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidis...	ORPHA:1772
Okamoto Syndrome	Redundant neck skin, Extension of hair growth on temples to lateral eyebrow, Hip dysplasia, Polyd...	ORPHA:2729
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Pseudoepiphyses of the metacarpals, Single transverse palmar crea...	OMIM:194190
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Craniosynostosis, Narrow chest	ORPHA:2136
Pontine Tegmental Cap Dysplasia	Rib fusion	OMIM:614688
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Noonan Syndrome 1	Male infertility, Woolly hair, Cryptorchidism, Synovitis, Low posterior hairline, Hypogonadism, R...	OMIM:163950
Cystinosis, Nephropathic	Male infertility, Hypopigmentation of hair, Retinal pigment epithelial mottling, Metaphyseal wide...	OMIM:219800
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle	OMIM:227645
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Acquired Generalized Lipodystrophy	Progeroid facial appearance, Generalized hirsutism, Unicameral bone cyst, Polycystic ovaries	ORPHA:79086
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Pagod Syndrome	Encephalocele, Death in infancy, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnorma...	ORPHA:991
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Cerebral arteriovenous malformation	OMIM:175050
Microphthalmia, Syndromic 3	Vertebral hypoplasia, Rib fusion, Supernumerary ribs, Missing ribs	OMIM:206900
Cardiac Diverticulum	Aplasia/Hypoplasia of the sternum	ORPHA:1686
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Wilson Disease	Poor motor coordination, Tremor, Hypoesthesia, Rigidity, Hand tremor, Face of the giant panda sig...	OMIM:277900
Fanconi Anemia, Complementation Group D2	Prolonged G2 phase of cell cycle	OMIM:227646
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus	OMIM:244400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Micrognathia, Abnormal thorax...	ORPHA:798
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dandy...	ORPHA:434179
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, C...	ORPHA:83617
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct...	ORPHA:90797
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f...	ORPHA:251510
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Fraser Syndrome	Encephalocele, Finger syndactyly, Death in infancy, Toe syndactyly, Abnormal hair pattern, Crypto...	ORPHA:2052
Cystic Fibrosis	Male infertility, Clubbing of fingers	OMIM:219700
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Rib fusion, Short foot, Hip dysplasia, Foot polydactyl...	ORPHA:1606
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Carpal synosto...	OMIM:157800
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Progeroid facial appearance, Micrognathia, Flexion contracture, ...	OMIM:614098
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cerebral arteriovenous malformation	OMIM:610655
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger	OMIM:118450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic...	ORPHA:293987
Coccidioidomycosis	Abnormal long bone morphology, Broad ribs, Broad metatarsal, Abnormal metacarpal morphology	ORPHA:228123
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Sparse hair, Dry...	OMIM:612132
Zttk Syndrome	Cervical ribs, Rib fusion, Short foot, Small hand	OMIM:617140
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl...	OMIM:607872
Mucopolysaccharidosis Type 2, Severe Form	Hip dysplasia, Thickened ribs, Diaphyseal thickening, Camptodactyly of finger	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Hip dysplasia, Thickened ribs, Diaphyseal thickening, Camptodactyly of finger	ORPHA:217093
Juvenile Polyposis Syndrome	Cerebral arteriovenous malformation	ORPHA:2929
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Prominent floating ribs, Micrognathia	ORPHA:2785
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cerebral arteriovenous malformation	OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cerebral arteriovenous malformation	OMIM:187300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Absent thumb, Rib fusion, Slender long bone, Cervical ribs	ORPHA:500150

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 En1

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 En1.

No publications found that use IMPC mice or data for En1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
En1^{tm418804(Ifitm2_intron_L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
En1^{tm435344(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
En1^{tm418804(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	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

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