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Gene: Dync2i2 MGI:1919070

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dynein 2 intermediate chain 2

Synonyms:

3200002I06Rik, Wdr34

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 Dync2i2 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 Dync2i2 (3 diseases)
Human diseases predicted to be associated with Dync2i2 (637 diseases)

The table below shows human diseases associated to Dync2i2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly...	ORPHA:474
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2i2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T...	OMIM:211960
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly	ORPHA:945
Gombo Syndrome	Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim...	ORPHA:93320
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Pelvis-Shoulder Dysplasia	Syndactyly, Short stature, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibul...	ORPHA:2839
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi...	ORPHA:1327
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Micromelia	ORPHA:63862
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Spina bifida	ORPHA:1104
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o...	ORPHA:3265
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia	ORPHA:141333
Caudal Duplication	Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ...	ORPHA:1120
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum	ORPHA:63260
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Hartsfield Syndrome	Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthal...	ORPHA:2117
Sirenomelia	Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia	ORPHA:3169
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Hyd...	ORPHA:1908
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Spina ...	ORPHA:3219
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Intrauterine growth retardation	OMIM:616570
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Postaxial polydactyly	OMIM:613094
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Spina bifida	ORPHA:2345
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth...	OMIM:613885
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ...	OMIM:300863
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad...	OMIM:136760
Congenital Vertical Talus	Myelomeningocele, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Craniotelencephalic Dysplasia	Microphthalmia, Hydrocephalus, Frontal encephalocele, Septo-optic dysplasia	ORPHA:1528
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb, Cryptorchidism	ORPHA:3434
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Preaxi...	ORPHA:65759
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Short stature, Spina bifida, Triceps aplasia, Patellar ...	OMIM:161200
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Microphthalmia	OMIM:164180
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly	OMIM:611638
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac...	OMIM:169550
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Intrauterine growth retardation	OMIM:616038
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f...	OMIM:613776
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality o...	ORPHA:163966
Bresek Syndrome	Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Growth delay, ...	ORPHA:85284
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the...	ORPHA:3412
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Talipes...	OMIM:614815
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:610023
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Syndactyly, Hydrocephalus, Polydactyly	OMIM:602501
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Trisomy 18	Short stature, Camptodactyly of finger, Spina bifida, Cryptorchidism, Postaxial hand polydactyly,...	ORPHA:3380
Isolated Hemihyperplasia	Cryptorchidism, Myelomeningocele	ORPHA:2128
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Mosaic Trisomy 9	Rocker bottom foot, Spina bifida, Micromelia, Elbow dislocation, Camptodactyly of finger, Cryptor...	ORPHA:99776
Cerebrocostomandibular Syndrome	Short stature, Spina bifida, Myelomeningocele, Meningocele, Clinodactyly of the 5th finger, Hydra...	ORPHA:1393
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, P...	OMIM:607361
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Intrauterine growth retardation, Aplasia/H...	ORPHA:1914
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Preaxial polyd...	OMIM:617927
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Spina bifida, Camptodactyly o...	ORPHA:2092
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane...	ORPHA:63259
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Bardet-Biedl Syndrome 4	Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele, Camptodactyly of finger	ORPHA:1759
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism	ORPHA:1926
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Long fingers, Cr...	OMIM:256520
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ...	OMIM:109400
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra...	OMIM:615665
Hydrolethalus	Anophthalmia, Micromelia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,...	ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Pierpont Syndrome	Short stature, Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease, Short finge...	OMIM:602342
Hydrolethalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra...	OMIM:304120
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Cryptorchidi...	ORPHA:261318
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism	OMIM:612918
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Bardet-Biedl Syndrome 16	Polydactyly, Short stature	OMIM:615993
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Cofs Syndrome	Microphthalmia, Short stature, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:1466
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Growth delay	OMIM:614082
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Postnatal growth retardation, Intrauterine growth retardation	OMIM:609054
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Moebius Syndrome	Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta...	OMIM:157900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Overlapping toe, Spina bifida, Abnormality of the hand, Optic nerve hypoplasia, Pre...	ORPHA:508498
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Hypoplastic ischia, Intrauterine growth retardation	OMIM:616910
Pierpont Syndrome	Cryptorchidism, Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphtha...	ORPHA:487825
Cloacal Exstrophy	Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal...	ORPHA:93929
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Humeroradial synostosis, Forearm un...	OMIM:251230
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B...	ORPHA:2211
Fanconi Anemia, Complementation Group R	Tethered cord, Absent thumb, Hydrocephalus, Growth delay, Microphthalmia, Radial dysplasia	OMIM:617244
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Phakomatosis Pigmentokeratotica	Hemiatrophy, Cryptorchidism, Spina bifida	ORPHA:2874
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Fanconi Anemia	Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly...	ORPHA:84
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Intrauterine growth retardation	ORPHA:858
Triploidy	Finger syndactyly, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine gr...	ORPHA:3376
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Diaphanospondylodysostosis	Narrow pelvis bone, Myelomeningocele	ORPHA:66637
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Postnatal growth retardation, Cryptorchidism, Short 5th finger, Polydactyly, Small pl...	ORPHA:397590
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:615524
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars...	OMIM:617102
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Orofaciodigital Syndrome Xvii	Short stature, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cent...	OMIM:617926
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Postnatal growth retardation, Upper limb asymmetry, Polydactyly, Clinodactyly of t...	ORPHA:231140
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe, Short stature, Cryptorchidism	OMIM:600118
Wildervanck Syndrome	Meningocele	ORPHA:3456
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Growth delay, Microphthalmia	OMIM:614424
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo...	OMIM:607597
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Ulnar deviation of ...	ORPHA:2876
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Spina bifida, Cryptorchid...	ORPHA:2308
Vater/Vacterl Association	Occipital encephalocele, Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Pos...	OMIM:192350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,...	ORPHA:93267
Gracile Bone Dysplasia	Short stature, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Bra...	OMIM:602361
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Hallermann-Streiff Syndrome	Spina bifida, Abnormality of the hand, Proportionate short stature, Cryptorchidism, Metaphyseal w...	OMIM:234100
Lumbar Syndrome	Cryptorchidism, Myelomeningocele, Spina bifida	ORPHA:83628
Septooptic Dysplasia	Optic disc hypoplasia, Short stature, Optic nerve hypoplasia, Polydactyly, Short finger	OMIM:182230
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation, Cryptorchidism	ORPHA:228390
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4t...	OMIM:618914
Nanophthalmos	Microphthalmia	ORPHA:35612
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:48431
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Short stature, Intrauterine growth retardation	ORPHA:195
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Broad thumb, Short clavicles	ORPHA:60015
Frontorhiny	Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum...	ORPHA:391474
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi...	OMIM:600145
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Cryptorchidism, Hydrocephalus, Short foot, H...	ORPHA:250989
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Hydrocephalus, Split hand, Absent toe, Absent ha...	ORPHA:974
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti...	OMIM:607323
Joubert Syndrome 10	Growth delay, Postaxial polydactyly	OMIM:300804
Waardenburg Syndrome, Type 1	Myelomeningocele, Hypoplastic iris stroma, Spina bifida	OMIM:193500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Syndromic 8	Microphthalmia, Split foot, Cryptorchidism	OMIM:601349
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Tethered cord, Short stature, Spinal dysraphism	OMIM:617660
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Cryptorchidism	OMIM:601794
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Short stature, Tapered finger, S...	OMIM:619148
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Cryptorchidism, Abnorma...	ORPHA:2879
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ...	OMIM:614219
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Sh...	OMIM:277170
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Meningocele, Umbilical...	ORPHA:2311
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Mild short stature, ...	OMIM:169400
Neu-Laxova Syndrome	Intrauterine growth retardation, Large hands, Spina bifida, Micromelia	ORPHA:2671
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hi...	OMIM:610758
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial p...	OMIM:616300
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature...	OMIM:146510
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Short stature, Postaxial polydactyly, Tapered finger, Postnatal growth retardati...	OMIM:613792
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/head morphology, ...	ORPHA:2788
Monosomy 18P	Microphthalmia, Short stature, Holoprosencephaly, Brachydactyly	ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Hydrocephalus	OMIM:613155
Nephronophthisis 15	Polydactyly	OMIM:614845
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hydrocephalus,...	OMIM:617866
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h...	OMIM:619879
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Myelomeningocele, Tethered c...	OMIM:620141
Acromelic Frontonasal Dysplasia	Encephalocele, Cryptorchidism, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial fo...	ORPHA:1827
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger	ORPHA:1438
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Growth delay, Microphthalmia, Intrauterine growth re...	OMIM:610756
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger	OMIM:616362
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly	OMIM:619694
Pagod Syndrome	Encephalocele, Short stature, Spina bifida, Meningocele, Abnormal testis morphology	ORPHA:991
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Congenital Rubella Syndrome	Short stature, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, In...	ORPHA:290
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Short stature	OMIM:300887
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum	OMIM:162200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over...	OMIM:618142
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fing...	OMIM:180849
Trisomy 13	Anophthalmia, Cryptorchidism, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:3378
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, Pos...	OMIM:264480
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Cryptorchidism, Elbow flexion contracture, Second metatarsal post...	OMIM:214150
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Proximal placement of thumb, Spina bifida	OMIM:304050
Joubert Syndrome 37	Short stature, Postaxial polydactyly, Cryptorchidism, Microphthalmia, Decreased testicular size	OMIM:619185
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger...	ORPHA:90652
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,...	ORPHA:268810
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Complete duplication of thu...	ORPHA:59315
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Laurence-Moon Syndrome	Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Growth delay, Short stature	OMIM:606744
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Sandestig-Stefanova Syndrome	Rocker bottom foot, Intrauterine growth retardation, Camptodactyly, Microphthalmia, Clinodactyly,...	OMIM:618804
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly...	ORPHA:139471
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Short stature, Cryptorchidism, 3-4 finger cutaneous syndactyly, Talipes equinovarus, ...	OMIM:612530
22Q11.2 Deletion Syndrome	Arachnodactyly, Short stature, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipita...	ORPHA:567
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short f...	OMIM:258860
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u...	ORPHA:163649
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Hip dislocation	ORPHA:2003
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease	OMIM:600251
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Short stature, Brachydactyly	OMIM:613819
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial...	OMIM:603671
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele, Short stature	ORPHA:2031
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Martsolf Syndrome 1	Short metacarpal, Short stature, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striat...	OMIM:212720
Holoprosencephaly	Encephalocele, Anophthalmia, Cryptorchidism, Hydrocephalus, Spinal cord tumor, Spinal dysraphism,...	ORPHA:2162
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Syringomyelia, Polydactyly	ORPHA:531151
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Cryptorchidism	OMIM:613730
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme...	OMIM:614091
Alg3-Cdg	Neural tube defect, Abnormal limb bone morphology, Metaphyseal chondrodysplasia	ORPHA:79321
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia	ORPHA:77298
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Short thumb, Cryptorchidism, Microphtha...	OMIM:244300
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Cryptorchidism, Ulnar bowing, Shortening of...	OMIM:619135
Split Cord Malformation	Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc...	ORPHA:573278
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly	ORPHA:261272
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly o...	OMIM:619721
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epi...	ORPHA:96334
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus	OMIM:613153
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho...	ORPHA:3103
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Short stature, Abnormality of the hand, Cryptorchidism, Bilateral microphthalmos, Cam...	ORPHA:369891
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Marden-Walker Syndrome	Arachnodactyly, Postnatal growth retardation, Cryptorchidism, Radioulnar synostosis, Talipes equi...	OMIM:248700
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Cryptorchidism, Nar...	ORPHA:193
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott...	ORPHA:1692
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Tapered finger	OMIM:619480
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Testicular ne...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Testicular ne...	ORPHA:363958
Oculofaciocardiodental Syndrome	Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2...	ORPHA:2712
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Neurocutaneous Melanocytosis	Meningocele, Syringomyelia	ORPHA:2481
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist...	ORPHA:404440
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Hydrocephalus, ...	ORPHA:564
Temtamy Syndrome	Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:218340
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Cryptorchidism, Hip dysplasia, Prominent fingertip pads, Overlapping fingers, Mi...	OMIM:618494
Joubert Syndrome 23	Polydactyly	OMIM:616490
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Cryptorchidism, Small hand, Short foot, Severe intrauterine growth ...	OMIM:241410
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Holoprosencephaly, Clinodactyl...	ORPHA:1587
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Short stature, Proximal placement of thumb	OMIM:617883
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Bilateral single transverse palmar creases, Short stature, Synostosis of carpal b...	ORPHA:3191
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Micro...	OMIM:609053
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Hydrocephalus, Growth delay, Hip dysplasia, Intrauterine growth retardation	OMIM:614576
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:93400
Joubert Syndrome 2	Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia	OMIM:608091
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Short stature, Postaxial polydactyly, Rh...	ORPHA:397715
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly	OMIM:147250
Baraitser-Winter Syndrome 1	Short stature, Postnatal growth retardation, Cryptorchidism, Duplication of phalanx of hallux, Mi...	OMIM:243310
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Stromme Syndrome	Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Microphthalmia	OMIM:243605
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Anenceph...	OMIM:236680
Mend Syndrome	Broad hallux, Overlapping toe, Short stature, Long fingers, Hydrocephalus, Cryptorchidism, 2-3 to...	ORPHA:401973
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly...	ORPHA:474
Joubert Syndrome 27	Polydactyly	OMIM:617120
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Mend Syndrome	Broad hallux, Overlapping toe, Short stature, Long fingers, Hydrocephalus, Cryptorchidism, 2-3 to...	OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb	OMIM:614643
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Cryptorchidism, Upper limb asymmetry, Umbilical hernia, Microphthalmia	ORPHA:2505
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Micr...	ORPHA:2166
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Trisomy 8Q	Camptodactyly of finger, Cryptorchidism, Myelomeningocele, Deep palmar crease, Brachydactyly	ORPHA:1752
Walker-Warburg Syndrome	Anophthalmia, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Microphthalmia	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Abnormally large globe	OMIM:615249
Warburg Micro Syndrome 2	Overlapping toe, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Clinodactyly of th...	OMIM:614225
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Meckel Syndrome, Type 1	Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of finger, Postaxial...	OMIM:249000
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Postaxial polydactyly, Intrauterine growth retardation	OMIM:615824
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Lathosterolosis	Toe syndactyly, Postaxial hand polydactyly, Meningocele, Postaxial foot polydactyly, Intrauterine...	ORPHA:46059
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Bilateral cryptorchidism, Intrauterine growth retardation	OMIM:613451
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Microphthalmia, Intrauterine growth ...	ORPHA:494344
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postnatal growth reta...	OMIM:605627
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Broad hallux, Single transverse palmar crease	OMIM:614105
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p...	OMIM:302960
Lateral Meningocele Syndrome	Tethered cord, Short stature, Cryptorchidism, Hydrocephalus, Meningocele, Dural ectasia, Syringom...	OMIM:130720
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Short stature, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly,...	OMIM:257850
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph...	OMIM:184705
Microphthalmia, Lenz Type	Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Abnormal shoulder morp...	ORPHA:568
Fanconi Anemia, Complementation Group F	Short stature, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger sy...	OMIM:603467
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Bilateral cryptorchidism, Central Y-shaped meta...	ORPHA:2754
Lateral Meningocele Syndrome	Cryptorchidism, Meningocele, Dural ectasia, Syringomyelia, Umbilical hernia	ORPHA:2789
Jacobsen Syndrome	Cryptorchidism, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Clinodactyly of the 5th fin...	OMIM:147791
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky...	OMIM:276820
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Stevenson-Carey Syndrome	Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microphthalmia, Hydrocephalus, Buphthalmos	OMIM:613150
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o...	ORPHA:3186
Fanconi Anemia, Complementation Group D2	Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Hydrocephalus...	OMIM:227646
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Incontinentia Pigmenti	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal hand morphology, Absent hand,...	ORPHA:464
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Decreased testicular size	ORPHA:335
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Mi...	ORPHA:3301
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Postnatal growth retardation, Decreased testicula...	OMIM:614222
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Growth delay, Camptodactyly of finger	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly	OMIM:253800
Orofaciodigital Syndrome I	Syndactyly, Short stature, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial de...	OMIM:311200
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia, Abnormality of the palmar creases	OMIM:618652
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum...	ORPHA:306542
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Growth delay, Bilateral talipes equinovarus, Micropht...	OMIM:614083
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal s...	ORPHA:35173
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Cryptorchidism, Hip dislocation, Growth delay, ...	OMIM:613884
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cryptorchidism, Growth delay, Camptodactyly, Microphthalmia, Absent...	OMIM:614230
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Refsum Disease	Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe	ORPHA:773
Monosomy 9Q22.3	Palmar pits, Hydrocephalus, Polydactyly, Microphthalmia, Umbilical hernia	ORPHA:77301
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia, Short stature	OMIM:617306
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,...	ORPHA:464738
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b...	OMIM:272950
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm	ORPHA:268249
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Short stature, Abnormal toe morphology...	ORPHA:404448
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cryptorchidism, Microphthalmia, In...	ORPHA:2728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Cryptorchid...	OMIM:236670
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Deep pa...	OMIM:616580
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Severe postnatal growth...	ORPHA:2399
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Micro...	ORPHA:284160
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism	ORPHA:363741
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Warburg Micro Syndrome 4	Short stature, Cryptorchidism, Severe postnatal growth retardation, Microphthalmia, Decreased tes...	OMIM:615663
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine...	OMIM:620098
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Cryptorchidism, Hip dysplasia, Microph...	OMIM:300895
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Fanconi Anemia, Complementation Group E	Short stature, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalmia, Complete...	OMIM:600901
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Postaxial han...	OMIM:610829
Fanconi Anemia, Complementation Group C	Short stature, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalmia, Complete...	OMIM:227645
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia	ORPHA:251038
Galloway-Mowat Syndrome 1	Short stature, Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microp...	OMIM:251300
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Cryptorchidism	OMIM:613001
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Fanconi Anemia, Complementation Group A	Short stature, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalmia, Complete...	OMIM:227650
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the ulna, Aplas...	OMIM:268300
Myhre Syndrome	Overlapping toe, Short stature, Cryptorchidism, Short toe, 2-3 toe syndactyly, Cone-shaped epiphy...	OMIM:139210
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, Camptodactyly, ...	OMIM:247200
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Overlapping toe, Short stature	OMIM:618571
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop...	OMIM:610828
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida	ORPHA:322
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr...	ORPHA:2886
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Galloway-Mowat Syndrome 3	Short stature, Arachnodactyly, Hip dislocation, Camptodactyly, Microphthalmia, Intrauterine growt...	OMIM:617729
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Cryptorchidism	ORPHA:2470
Oculo-Palato-Cerebral Syndrome	Short stature, Small hand, Short foot, Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Micro Syndrome	Short stature, Cryptorchidism, Delayed puberty, Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly...	OMIM:601812
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
3Mc Syndrome 3	Short stature, Cryptorchidism, Preaxial polydactyly, Growth delay, Radioulnar synostosis, Clinoda...	OMIM:248340
Pallister-Hall Syndrome	Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Short stature, Cryptorchidism, Umbilical...	ORPHA:672
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mosaic Variegated Aneuploidy Syndrome	Short stature, Growth delay, Abnormality of the upper limb, Holoprosencephaly, Clinodactyly of th...	ORPHA:1052
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod...	ORPHA:457284
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Microphthalmia, Syndromic 5	Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	OMIM:610125
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Short stature, Unilateral microphthalmos, Adducted thumb	OMIM:618874
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Flexion contracture of finger, Meningocele, Palmoplantar keratoderma	ORPHA:1010
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:100300
Dubowitz Syndrome	Syndactyly, Short stature, Single transverse palmar crease, Postnatal growth retardation, Cryptor...	OMIM:223370
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the...	ORPHA:364577
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, Short stature, Cryptorchidism, 2-3 toe cutaneous syndacty...	OMIM:300166
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly	OMIM:616449
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short stature, Short thumb, Cryptorchidism, Small hand, Short foot, T...	OMIM:268400
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-3 toe syndact...	OMIM:614099
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Cryptorchidism, Ivory epiphyses of the phalan...	OMIM:133540
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Cryptorchidism, Polydactyly, Acrome...	ORPHA:464306
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Post...	ORPHA:93325
Momo Syndrome	Short stature, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital p...	ORPHA:2563
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Severe short stature, Camptodactyly of finger, Optic nerve hypoplasia, Cry...	ORPHA:468631
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:174300
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Short stature, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal ...	OMIM:201180
Khan-Khan-Katsanis Syndrome	Tethered cord, Short stature, Postaxial polydactyly, Buphthalmos, Intrauterine growth retardation...	OMIM:618460
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cat Eye Syndrome	Absent radius, Umbilical hernia, Microphthalmia, Short stature	OMIM:115470
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hi...	OMIM:300968
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c...	ORPHA:508488
Fraser Syndrome	Encephalocele, Finger syndactyly, Toe syndactyly, Anophthalmia, Cryptorchidism, Myelomeningocele,...	ORPHA:2052
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse...	ORPHA:1236
Culler-Jones Syndrome	Cryptorchidism, Short stature, Postaxial polydactyly	OMIM:615849
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Growth delay, Polydactyly, Hol...	ORPHA:95494
Charge Syndrome	Anophthalmia, Short stature, Aqueductal stenosis, Cryptorchidism, Abnormal tibia morphology, Post...	ORPHA:138
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Bilateral cryptorchidism, Cr...	OMIM:614976
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Tapered finger	ORPHA:65286
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Long fingers	OMIM:156610
Witteveen-Kolk Syndrome	Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Short stature, Tapered finger, Cryptorchidism, Small hand, Genu valgum,...	OMIM:615873
Oculodentodigital Dysplasia	4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx...	OMIM:164200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Broad hallux, Single transverse palmar crease, Short stature, Hydrocele testis, M...	OMIM:620186
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Cr...	OMIM:229850
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Microphthalmia, Cryptorchidism	ORPHA:861
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Kinsship Syndrome	Short stature, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, ...	OMIM:619297
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Cryptorchidism, Myelomeningocele, H...	OMIM:219000
Fryns Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Cryptorchidism, Short distal phalanx of finger	ORPHA:2059
Marfan Syndrome	Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Meningocele, Increased axial length ...	ORPHA:558
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease	OMIM:619053
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Tapered finger, Long fingers, Cryptorchidism, 2-3 toe syndactyly, Short palm, Clin...	OMIM:616734
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Fontaine Progeroid Syndrome	Syndactyly, Short stature, Cryptorchidism, Hydrocephalus, Deep palmar crease, Absent distal phala...	OMIM:612289
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Cryptorchidism, Small hand, Severe postnatal growth retardation, Hip dysplasia, M...	OMIM:620005
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Abnormal mitochondrial shape, Growth delay, Polydactyly	ORPHA:17
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Short stature, Cryptorchidism, Hip dysplasia, Clinodactyly of the 5th finger, Microph...	OMIM:616975
Kenny-Caffey Syndrome, Type 2	Severe short stature, Short stature, Microphthalmia, Thickened cortex of long bones, Abnormality ...	OMIM:127000
Arima Syndrome	Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Growth delay	OMIM:243910
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Cryptorchidism, Bilateral microphthalmos, Neon...	OMIM:601186
Hallermann-Streiff Syndrome	Proportionate short stature, Cryptorchidism, Small hand, Short foot, Clinodactyly of the 5th fing...	ORPHA:2108
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh...	OMIM:608670
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Postaxial polydactyly, Cryptorchidism, Growth delay, Hip dysplasia, Branc...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Postaxial polydactyly, Cryptorchidism, Growth delay, Hip dysplasia, Branc...	ORPHA:352665
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Choanal Atresia	Polydactyly	ORPHA:137914
Rabson-Mendenhall Syndrome	Severe postnatal growth retardation, Polydactyly, Short stature, Intrauterine growth retardation	ORPHA:769
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Short stature, Single transverse palmar crease	OMIM:309801
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Trichothiodystrophy	Cryptorchidism, Bilateral microphthalmos, Clubbing, Umbilical hernia, Intrauterine growth retarda...	ORPHA:33364
Monosomy 9P	Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly...	ORPHA:261112
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Ab...	OMIM:214800
Atelis Syndrome 2	Microphthalmia, Clinodactyly, Single transverse palmar crease	OMIM:620185
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit...	ORPHA:353277
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Postnatal growth reta...	OMIM:113620
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta...	OMIM:610168
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Short stature, Tapered finger, Abnormal toe morphology, Cryptorchidism, Polydactyl...	ORPHA:268261
Knobloch Syndrome 1	Occipital encephalocele, Phthisis bulbi, Macular hypoplasia, Occipital meningocele, Spina bifida ...	OMIM:267750
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia	OMIM:601552
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature...	OMIM:619539
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Cryptorchidism, Postaxial hand polydactyly, Preaxial polyd...	OMIM:615948
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati...	ORPHA:857
Degcags Syndrome	Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cryptorchidism, Genu valgum, ...	OMIM:619488
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Short stature, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinod...	OMIM:613610
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Oculocerebrorenal Syndrome Of Lowe	Short stature, Cryptorchidism, Hip dislocation, Genu valgum, Buphthalmos, Azoospermia, Abnormal e...	ORPHA:534
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Wrist swelling, Cryptorchidism, Postnatal growth retardat...	OMIM:309000
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma...	OMIM:612474
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Cryptorchidism, Hydrocephalus, Postaxial hand polyd...	OMIM:312870
Histiocytoid Cardiomyopathy	Microphthalmia, Hydrocephalus, Congenital aphakia	ORPHA:137675
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Aicardi Syndrome	Microphthalmia, Hip dysplasia, Small hand, Delayed puberty	ORPHA:50
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Osteoporosis-Pseudoglioma Syndrome	Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia	OMIM:259770
Okamoto Syndrome	Tethered cord, Abnormally large globe, Severe postnatal growth retardation, Hip dysplasia, Syring...	ORPHA:2729
Papillorenal Syndrome	Microphthalmia, Short stature	OMIM:120330
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Severe short stature, Hydrocephalus, Growth delay, Microphthalmia, Abnormal testis ...	ORPHA:2556
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
Renpenning Syndrome 1	Short stature, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the p...	OMIM:309500
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Hypoplastic pelvis	OMIM:273395
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Short stature	ORPHA:137605
Holoprosencephaly 1	Microphthalmia, Ethmocephaly, Short stature, Alobar holoprosencephaly	OMIM:236100
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short lo...	OMIM:617088
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Short stature	OMIM:301022
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Short stature	OMIM:308300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:2250
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hydrocephalus, Hypoplasia of the retina	OMIM:253280
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Holoprosencephaly	ORPHA:141099
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first...	OMIM:619534
Cockayne Syndrome	Severe short stature, Postnatal growth retardation, Cryptorchidism, Growth delay, Abnormal epiphy...	ORPHA:191
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis	OMIM:612731
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly, Short stature	OMIM:619869
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Short stature, Postaxial polydactyly,...	ORPHA:480880
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ...	OMIM:164210
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cryptorchidism...	OMIM:309800
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Cockayne Syndrome Type 3	Microphthalmia, Mild postnatal growth retardation	ORPHA:90324
Holoprosencephaly 2	Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly	OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, S...	ORPHA:261537
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Short stature, Ta...	ORPHA:2152
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cryptorchidism	OMIM:603457
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, S...	ORPHA:261552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:175780
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Norrie Disease	Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Delayed puberty, Micropht...	ORPHA:649
Mowat-Wilson Syndrome	Microphthalmia, Short stature, Cryptorchidism	OMIM:235730
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos	OMIM:154500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	ORPHA:93271

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 Dync2i2

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 Dync2i2.

No publications found that use IMPC mice or data for Dync2i2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dync2i2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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