Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Disease ID: disease_node_16367
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618273 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050888 |
| Data Source | DOID |
| Synonyms | MCCCHCM |
| Doid Label | mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
| Doid Description | A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. |
| Has Phenotype | HP_0012758 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16367 |
| Doid Id | DOID_0111403 |
| Label | Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease)