|
3461
|
|
|
WD repeat domain 43 |
NET12, UTP5 |
|
|
3462
|
|
|
Mitogen-activated protein kinase 8 interacting protein 3 |
JIP-3, JIP3, JSAP1, NEDBA, SYD2, syd |
Camptodactyly of fingers, Cerebellar hypoplasia, Cerebral atrophy, Developmental delay, Dysarthria, Hypoplasia of corpus callosum, Mental retardation, Microstomia, Hypotonia, Nystagmus, Sclerocystic ovaries, Polycystic ovary syndrome, Scoliosis, Strabismus |
|
3463
|
|
|
Golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
- |
|
|
3464
|
|
|
Myosin phosphatase Rho interacting protein |
M-RIP, MRIP, RHOIP3, RIP3, p116Rip |
|
|
3465
|
|
|
Nucleoporin 205 |
C7orf14, NPHS13 |
|
|
3466
|
|
|
Stabilin 1 |
CLEVER-1, FEEL-1, FEEL1, FELE-1, FEX1, HRFT, SCARH2, STAB-1 |
|
|
3467
|
|
|
RTF1 homolog, Paf1/RNA polymerase II complex component |
GTL7, KIAA0252 |
|
|
3468
|
|
|
Solute carrier family 35 member D1 |
SHNKND, UGTREL7 |
|
|
3469
|
|
|
Filamin B |
ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP |
Abnormal spinal segmentation, Accessory carpal bones, Aortic aneurysm, Atelosteogenesis, Atrial septal defect, Boomerang dysplasia, Brachydactyly, Breast cancer, Bronchomalacia, Camptodactyly of fingers, Cardiovascular abnormalities, Carpal synostosis, Cataract, Congenital cerebral hernia, Congenital clubfoot, Congenital dislocation of knee, Congenital omphalocele, Congenital pectus carinatum, Congenital pectus excavatum, Craniosynostosis, Cryptorchidism, Dental enamel hypoplasia, Developmental delay, Dwarfism, Eating disorders, Epiphyseal dysplasia, Frontal bossing, Hearing loss, High palate, Hydrops fetalis, Hypodontia, Hypoplasia of spine, Hypoplasia of the maxilla, Isolated somatotropin deficiency, Larsen syndrome, Laryngostenosis, Malrotation of colon, Mental retardation, Micrognathism, Micromelia, Multiple renal cysts, Platybasia, Proptosis, Pulmonary hypoplasia, Renal cyst, Retinal dysplasia, Rhizomelia, Scoliosis, Short femur, Short-limb dwarfism, Somatotropin deficiency, Spina bifida occulta, Spinal cord compression, Spondylocarpotarsal synostosis syndrome, Spondylolysis, Syndactyly of fingers, Talipes equinovalgus, Tarsal coalition, Thoracic hypoplasia, Tracheal stenosis, Tracheomalacia, Ventricular septal defectView all (47 more) |
|
3470
|
|
|
Tubulin tyrosine ligase like 12 |
dJ526I14.2 |
|
