Autosomal Domit Primary Microcephaly 29
Disease ID: disease_node_19297
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| Dbxref | MIM:620047 |
|---|---|
| Subclassof | DOID_0070296 |
| Data Source | DOID |
| Doid Label | autosomal domit primary microcephaly 29 |
| Doid Description | A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19297 |
| Doid Id | DOID_0051040 |
| Label | Autosomal Domit Primary Microcephaly 29 |
- Outgoing r'ship
SUBCLASS_OFto/from Primary Autosomal Recessive Microcephaly(ID:disease_node_19277) (Disease)