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primary autosomal recessive microcephaly
Summary
- Synonym
-
- MCPH
- Definition
- A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
- Super Class
- autosomal recessive disease primary microcephaly
External Links
- Disease Ontology
- DOID:0070296
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12235 | Bub1 | BUB1, mitotic checkpoint serine/threonine kinase | |
| 16906 | Lmnb1 | lamin B1 | |
| 16907 | Lmnb2 | lamin B2 | |
| 18571 | Pdcd6ip | programmed cell death 6 interacting protein | |
| 78658 | Ncapd3 | non-SMC condensin II complex, subunit D3 | |
| 215387 | Ncaph | non-SMC condensin I complex, subunit H |
