|
3451
|
|
|
Ankyrin repeat and LEM domain containing 2 |
KIAA0692, LEMD7, Lem4, MCPH16 |
Agenesis of corpus callosum, Cryptorchidism, Developmental delay, Dwarfism, Glaucoma, Mental retardation, Microcephaly, Micrognathism, Neuronal heterotopia, Pachygyria, Ptosis, Renal aplasia, Spastic quadriplegia, Vesicoureteral reflux |
|
3452
|
|
|
Defective in cullin neddylation 1 domain containing 4 |
DCNL4 |
|
|
3453
|
|
|
Leucine rich repeats and calponin homology domain containing 1 |
CHDC1, NP81 |
|
|
3454
|
|
|
Zinc finger CCCH-type containing 3 |
SMICL, ZC3HDC3 |
|
|
3455
|
|
|
Melan-A |
MART-1, MART1 |
|
|
3456
|
|
|
FERM domain containing 4B |
6030440G05Rik, GRSP1 |
|
|
3457
|
|
|
GRAM domain containing 4 |
DIP |
|
|
3458
|
|
|
Capicua transcriptional repressor |
MRD45 |
Anaplastic oligodendroglioma, Spinocerebellar ataxia, Attention deficit hyperactivity disorder, Autism spectrum disorder, Breast cancer, Developmental delay, Developmental regression, Glioma, Mental retardation, Minimal brain dysfunction, Non-syndromic intellectual disability, Oligodendroglioma, Sarcoma |
|
3459
|
|
|
Neurochondrin |
NEDIES |
|
|
3460
|
|
|
Filamin A |
ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD |
Accessory carpal bones, Acquired kyphoscoliosis, Acrosteolysis, Anodontia, Aortic aneurysm, Aortic valve insufficiency, Arachnodactyly, Bicuspid aortic valve, Blood coagulation disorders, Brachydactyly, Breast cancer, Mammary neoplasms, Breast carcinoma, Cardiac valvular dysplasia , x-linked, Cataract, Cerebellar hypoplasia, Chondrodystrophic myotonia, Clinodactyly, Congenital cerebral hernia, Congenital clubfoot, Congenital coloboma of iris, Congenital diaphragmatic hernia, Dislocated radial head, Developmental dysplasia of the hip, Congenital epicanthus, Congenital exomphalos, Short clavicles, Pulmonary hypoplasia, Congenital kyphoscoliosis, Congenital malrotation of intestine, Congenital omphalocele, Congenital pectus excavatum, Congestive heart failure, Cor pulmonale, Craniosynostosis, Cryptorchidism, Developmental delay, Dwarfism, Dyschondroplasias, Ehlers-danlos syndrome, Ehlers-danlos syndrome, x-linked, Elbow flexion contracture, Epilepsy, Epileptic encephalopathy, Fg syndrome, Fg syndrome phenotypic spectrum, Fibroma, Flexion contracture of wrist, Frontal bossing, Frontometaphyseal dysplasia, Gastroesophageal reflux disease, Glaucoma, Glaucoma, congenital, Glossoptosis, Hearing loss, Heart septal defects, Heterotopia, High palate, Hydrocephalus, Hydronephrosis, Hypodontia, Hypoplasia of thumb, Hypospadias, Hypotrichosis, Impaired cognition, Intestinal pseudoobstruction, Intestinal pseudoobstruction, neuronal, x-linked, Lipoatrophy, Lipodystrophy, Macrothrombocytopenia, Macrotia, Malabsorption syndrome, Malformation of cortical development, Cystosarcoma phyllodes, Marfan syndrome, Melnick-needles syndrome, Meningomyelocele, Mental retardation, Micrognathism, Microstomia, Mitral valve prolapse, Motor delay, Multiple epiphyseal dysplasia, Nail diseases, Nail dysplasia, Nail dystrophy, Hypotonia, Neuronal heterotopia, Neuronal intestinal pseudoobstruction, Oligodontia, Osteochondrodysplasia, Osteosclerosis, Otitis media, Oto-palato-digital syndrome, Patent ductus arteriosus, Periventricular heterotopia, x-linked, Periventricular nodular heterotopia, Phyllodes tumor, Pierre-robin syndrome, Posteriorly rotated ear, Proptosis, Ptosis, Pulmonary arterial hypertension, Periventricular heterotopia, Radial polydactyly, Respiratory failure, Schwartz-jampel syndrome, Scoliosis, Skeletal dysplasia, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Spondylolysis, Strabismus, Stroke, Syndactyly, Syndactyly of the toes, Tarsal coalition, Terminal osseous dysplasia and pigmentary defects, Thoracic aortic aneurysm and aortic dissection, Tracheal stenosis, Tricuspid valve insufficiency, Tricuspid valve prolapse, Postaxial hand polydactyly, Van buchem disease, Vertical talus, Vesicoureteral refluxView all (111 more) |
