|
2671
|
|
|
ADAM metallopeptidase with thrombospondin type 1 motif 19 |
CVDP2 |
|
|
2672
|
|
|
ASXL transcriptional regulator 1 |
BOPS, MDS |
Accessory nipple, Agenesis of corpus callosum, Atrial septal defect, Bohring-opitz syndrome, Cerebral cortical atrophy, Congenital camptodactyly, Dislocated radial head, Congenital malrotation of intestine, Dandy-walker syndrome, Developmental delay, Dwarfism, Dysmorphic features, Eosinophilia, Gastroesophageal reflux disease, Glabellar hemangioma, High palate, Hydronephrosis, Hypertrichosis, Hypoplasia of corpus callosum, Mental retardation, Intestinal volvulus, Leukemia, Non-hodgkin lymphoma, Mastocytosis, Microcephaly, Micrognathism, Microtia, Movement disorders, Multicystic renal dysplasia, Multiple congenital anomalies, Myelodysplasia, Myelodysplastic syndrome, Myeloid leukemia, Myelomonocytic leukemia, Myopia, Nephroblastoma, Neuronal heterotopia, Patent foramen ovale, Phakomatosis pigmentovascularis, Posteriorly rotated ear, Promyelocytic leukemia, Proptosis, Retinal diseases, Scoliosis, Sleep apnea, Spade-like hand, Spastic quadriplegia, Strabismus, Syndactyly, Synophrys, Systemic mastocytosis, Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease, Systemic mastocytosis with associated hematologic neoplasm, Talipes, Trigonocephaly, Ventricular septal defect, Vesicoureteral reflux, Wilms tumorView all (43 more) |
|
2673
|
|
|
Synaptopodin 2 |
- |
|
|
2674
|
|
|
DiGeorge syndrome chromosome region |
CATCH22, DGS, VCF |
|
|
2675
|
|
|
Citramalyl-CoA lyase |
CLB |
|
|
2676
|
|
|
Pre T cell antigen receptor alpha |
IMD126, PT-ALPHA, PTA |
|
|
2677
|
|
|
RNA polymerase III subunit H |
C25, RPC22.9, RPC8 |
46, xx gonadal dysgenesis, 46,xx gonadal dysgenesis, Arachnoid cyst, Cerebellar-retinal degeneration, Developmental delay, Frontal bossing, Gonadal dysgenesis, Movement disorders, Optic atrophy, Sensorineural hearing loss |
|
2678
|
|
|
Deoxyguanosine kinase |
MTDPS3, NCPH, NCPH1, PEOB4, dGK |
Cataract, Cerebral atrophy, Cerebral cortical atrophy, Cholestasis, Cruveilhier-baumgarten syndrome, Dementia, Deoxyguanosine kinase deficiency, Dysphagia, Epileptic encephalopathy, Fatty liver, Hearing loss, Hyperbilirubinemia, Hypoalbuminemia, Hypoglycemia, Impaired cognition, Limb-girdle muscle atrophy, Liver failure, Mental depression, Microcephaly, Micronodular cirrhosis, Mitochondrial dna depletion syndrome, hepatocerebral, Mitochondrial dna depletion syndrome, Mitochondrial myopathy, Multiple mitochondrial dna deletion syndrome, Nystagmus, Optic atrophy, Peripheral axonal neuropathy, Polyneuropathy, Portal hypertension, Progressive external ophthalmoplegia, Progressive external ophthalmoplegia with mitochondrial dna deletions, Ptosis, StrabismusView all (18 more) |
|
2679
|
|
|
7-dehydrocholesterol reductase |
SLOS |
7-dehydrocholesterol reductase deficiency, Abnormal dermatoglyphic pattern, Allanson pantzar mcleod syndrome, Ambiguous genitalia, Aortic coarctation, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Brachydactyly, Cataract, Choanal atresia, Cholestatic liver disease, Congenital clubfoot, Congenital coloboma of iris, Congenital diaphragmatic hernia, Congenital epicanthus, Congenital gallbladder anomaly, Congenital hypoplasia of penis, Congenital malrotation of intestine, Congenital microcephaly, Cryptorchidism, Cutis marmorata, Dandy-walker syndrome, Developmental delay, Dwarfism, Dysmorphic features, Eczema, Foot polydactyly, Gastroesophageal reflux disease, Gastroschisis, Glaucoma, Hearing loss, Hirschsprung disease, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hypertrophy of clitoris, Hypocholesterolemia, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Hypoplasia of thumb, Hypospadias, Impaired cognition, Liver cirrhosis, Liver fibrosis, Macrostomia, Mental retardation, Mesomelia, Metabolic bone disorder, Microcephaly, Microglossia, Micrognathism, Micromelia, Movement disorders, Multicystic renal dysplasia, Multiple congenital anomalies, Nephritis, Nystagmus, Optic atrophy, Osteopenia, Otitis media, Partial or complete agenesis of corpus callosum, Patent ductus arteriosus, Penis agenesis, Periventricular nodular heterotopia, Postaxial hand polydactyly, Postaxial polydactyly of hands, Posteriorly rotated ear, Precocious puberty, Proptosis, Ptosis, Pulmonary hypoplasia, Pulmonary stenosis, Renal agenesis, Renal aplasia, Renal cyst, Renal hypoplasia, Rhizomelia, Sclerocornea, Scoliosis, Smith-lemli-opitz syndrome, Strabismus, Syndactyly, Syndactyly of fingers, Syndactyly of the toes, Tracheal stenosis, Ventricular septal defectView all (72 more) |
|
2680
|
|
|
24-dehydrocholesterol reductase |
DCE, Nbla03646, SELADIN1, seladin-1 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alzheimer disease, Ambiguous genitalia, Arthrogryposis multiplex congenita, Autism spectrum disorder, Congenital epicanthus, Congenital malrotation of intestine, Desmosterolosis, Developmental delay, Dwarfism, Frontal bossing, Hydrocephalus, Macrocephaly, Mental retardation, Microcephaly, Micrognathism, Micromelia, Microstomia, Nystagmus, Osteopetrosis, Pachygyria, Partial agenesis of corpus callosum, Patent ductus arteriosus, Polymicrogyria, Posteriorly rotated ear, Pulmonary venous return anomaly, Q fever, Renal agenesis, Rhizomelia, Senile dementia, Status epilepticus, Strabismus, Submucosal cleft palate, TalipesView all (20 more) |
