Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly
Disease ID: disease_node_20557
Connections displayed (default: 10).
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| Dbxref | GARD:10995, MIM:613668, ORDO:402364 |
|---|---|
| Subclassof | DOID_936, DOID_0050737 |
| Data Source | DOID |
| Synonyms | postnatal progressive microcephaly, seizures, and brain atrophy |
| Doid Label | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| Doid Description | A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20557 |
| Doid Id | DOID_0111262 |
| Label | Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly |
- Outgoing r'ship
SUBCLASS_OFto/from Brain Diseases(ID:disease_node_1682) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)