Autosomal Domit Primary Microcephaly 28
Disease ID: disease_node_19298
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| Dbxref | MIM:619453 |
|---|---|
| Subclassof | DOID_0070296 |
| Data Source | DOID |
| Doid Label | autosomal domit primary microcephaly 28 |
| Doid Description | A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19298 |
| Doid Id | DOID_0051039 |
| Label | Autosomal Domit Primary Microcephaly 28 |
- Outgoing r'ship
SUBCLASS_OFto/from Primary Autosomal Recessive Microcephaly(ID:disease_node_19277) (Disease)