Search Ontology:
Human Disease
primary autosomal recessive microcephaly 31
- Term ID
- DOID:0051074
- Synonyms
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- Definition
- A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14. https://pubmed.ncbi.nlm.nih.gov/40210435/
- References
- Ontology
- Human Disease ( DOID:0051074 )
Other Pages
Genes Involved
Zebrafish Models