microcephaly 24, primary, autosomal recessive
MONDO:0032583Mondo
Findings
No curated finding names microcephaly 24, primary, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 3 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.
- NUP37HGNC:29929
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Limited · LiferaOmics · Autosomal recessive · 2026