|
541
|
|
|
Radical S-adenosyl methionine domain containing 2 |
SAND, cig33, cig5, vig1 |
|
|
542
|
|
|
RAS like family 10 member B |
RRP17, VTS58635 |
|
|
543
|
|
|
RALBP1 associated Eps domain containing 2 |
POB1 |
|
|
544
|
|
|
RFT1 glycolipid translocator homolog |
CDG1N, SLC76A1 |
Arthrogryposis multiplex congenita, Blood coagulation disorders, Cerebellar atrophy, Cerebral cortical atrophy, Congenital disorder of glycosylation, Crohn disease, Development disorder, Developmental delay, Dwarfism, Hearing loss, Mental retardation, Microcephaly, Micrognathism, Schizophrenia, Strabismus, West syndromeView all (1 more) |
|
545
|
|
|
Ripply transcriptional repressor 1 |
- |
|
|
546
|
|
|
RAB11B, member RAS oncogene family |
H-YPT3, NDAGSCW |
Clinodactyly, Congenital clubfoot, Developmental delay, Hyperopia, Mental retardation, Microcephaly, Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, Nystagmus, Optic atrophy, Stereotyped behavior, Strabismus |
|
547
|
|
|
Receptor accessory protein 6 |
C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB1, TB2L1, Yip2f |
Capsular cataract, Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Keratoconus, Mental retardation, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Retinitis pigmentosa, Rod-cone dystrophyView all (1 more) |
|
548
|
|
|
Ribosomal protein L23 |
L23, rpL17, uL14 |
|
|
549
|
|
|
RAB28, member RAS oncogene family |
CORD18 |
|
|
550
|
|
|
RecQ like helicase 4 |
RECQ4 |
Absent eyebrow, Acquired kyphoscoliosis, Agenesis of corpus callosum, Alopecia, Anemia, Annular pancreas, B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); tel-aml1 (etv6-runx1), Baller-gerold syndrome, Blepharophimosis, Carcinoma, Carpal synostosis, Cataract, Congenital cataract, Congenital clubfoot, Developmental dysplasia of the hip, Congenital epicanthus, Rib fusion, Congenital heart defects, Congenital hypoplasia of radius, Congenital kyphoscoliosis, Coronal craniosynostosis, Cryptorchidism, Dwarfism, Dysmorphic features, Frontal bossing, Glaucoma, Hearing loss, Heart septal defects, High grade surface osteosarcoma, High palate, Hydrocephalus, Hydronephrosis, Hypogonadism, Hypoplasia of teeth, Hypoplasia of thumb, Hypotrichosis, Imperforate anus, Lymphoma, Malabsorption syndrome, Malignant histiocytoma, Malocclusion, Mental retardation, Microcornea, Microdontia, Micrognathism, Microphthalmos, Microstomia, Midface capillary hemangioma, Multicystic renal dysplasia, Multiple congenital anomalies, Myelodysplasia, Myelodysplastic syndrome, Myopia, Nail dystrophy, Neutropenia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Osteopenia, Osteoporosis, Osteosarcoma, Palmoplantar keratoderma, Poikiloderma, Polymicrogyria, Proptosis, Rapadilino syndrome, Rothmund-thomson syndrome, Sagittal craniosynostosis, Scoliosis, Severe combined immunodeficiency disease, Skeletal dysplasia, Spina bifida occulta, Strabismus, Synostotic posterior plagiocephaly, Thumb aplasia, Vesicoureteral refluxView all (61 more) |
