Autosomal Domit Primary Microcephaly 30
Disease ID: disease_node_19296
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| Dbxref | MIM:620183 |
|---|---|
| Subclassof | DOID_0070296 |
| Data Source | DOID |
| Doid Label | autosomal domit primary microcephaly 30 |
| Doid Description | A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19296 |
| Doid Id | DOID_0051041 |
| Label | Autosomal Domit Primary Microcephaly 30 |
- Outgoing r'ship
SUBCLASS_OFto/from Primary Autosomal Recessive Microcephaly(ID:disease_node_19277) (Disease)