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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
primary autosomal recessive microcephaly 1
Summary
- Synonym
-
- MCPH1
- Definition
- A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
- Super Class
- primary autosomal recessive microcephaly
External Links
- Disease Ontology
- DOID:0070285
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14521 | Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial | |
| P21912 | Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial |
