microcephaly 11, primary, autosomal recessive
Findings
No curated finding names microcephaly 11, primary, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014173), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
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.
- PHC1HGNC:3182
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: microcephaly 11, primary, autosomal recessive
- Also called
- autosomal recessive primary microcephaly caused by mutation in PHC1PHC1 autosomal recessive primary microcephaly