951
|
|
|
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
CDG1S, CXorf45, DEE36, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W |
Curated: Congenital disorder of glycosylation, Developmental and epileptic encephalopathy, Epilepsy, Focal glomerulosclerosis, Intellectual developmental disorder, Intellectual developmental disorder, x-linked, Neurodevelopmental disorder, X-linked intellectual disability, Scoliosis, genetic developmental and epileptic encephalopathy
Unreviewed: Attention Deficit Hyperactivity Disorder, Autism, Brachycephaly, Brain atrophy, Brain disease, Cataract-microcornea syndrome, Cerebral Atrophy, Cerebral cortical atrophy, Developmental Delay, Developmental disability, Endocrine system disease, Epileptic encephalopathy, Facial paralysis, Glomerulosclerosis, Glycogen storage disease, Horizontal nystagmus, Hypersensitivity, Impaired Cognition, Infantile Spasms, Leiomyoma, Lung carcinoma, Macrocephaly, Meckel Diverticulum, Mental retardation, Mental Retardation, X-Linked, Microcephaly, Micrognathism, Movement disorder, Neurodevelopmental Disorders, Neurosensory Hearing impairment, Non-Syndromic Intellectual Disability, X-Linked, Nonobstructive azoospermia, Nystagmus, Obesity, Optic Atrophy, Osteopenia, Osteoporosis, Seizure, Syndactyly Of The Toes, Visual disorder, West Syndrome
|