microcephaly with intellectual disability
MONDO:0100200Mondo
Findings
No curated finding names microcephaly with intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.
Definition from the Mondo Disease Ontology (MONDO:0100200), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MCPH1HGNC:6954
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: microcephaly with intellectual disability
- Also called
- microcephaly with neurodevelopmental phenotypes