Hypomyelinating Leukodystrophy 22
Disease ID: disease_node_19931
Connections displayed (default: 10).
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| Dbxref | MIM:619328 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050736 |
| Data Source | DOID |
| Synonyms | HLD22 |
| Doid Label | hypomyelinating leukodystrophy 22 |
| Doid Description | A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19931 |
| Doid Id | DOID_0070402 |
| Label | Hypomyelinating Leukodystrophy 22 |
- Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)