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Browse result for Hypomyelination and congenital cataract
※ introduction Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter[1] and is characterized by congenital cataract (or cataracts that begin in the first two months of life), psychomotor development delays, and moderate intellectual disabilities. It is a type of leukoencephalopathy.[2]
Reference
Wiki: Hypomyelination and congenital cataract
Reference
Wiki: Hypomyelination and congenital cataract
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD12362 | Q9BYI3 | 84668 | HYCC1 | Hyccin | Homo sapiens |
