Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Disease ID: disease_node_16443
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| Dbxref | GARD:13425, MIM:616657, ORDO:447997, UMLS_CUI:C4225254 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | SPATCCM |
| Doid Label | spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
| Doid Description | An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. |
| Disease Node Id | disease_node_16443 |
| Doid Id | DOID_0070537 |
| Label | Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)