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Repository for lectin-assisted multimodality data
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MIRAGE
primary autosomal recessive microcephaly 5
Summary
- Synonym
-
- MCPH5
- Definition
- A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
- Super Class
- primary autosomal recessive microcephaly
External Links
- Disease Ontology
- DOID:0070280
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IZT6 | Abnormal spindle-like microcephaly-associated protein |
