microcephaly 22, primary, autosomal recessive
MONDO:0054805Mondo
Findings
No curated finding names microcephaly 22, 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
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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
- Limb hypertoniaHPOHP:0002509
- 1 of 2 reported patients
- Moderate global developmental delayHPOHP:0011343
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
- Small for gestational ageHPOHP:0001518
- 1 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.
- NCAPD3HGNC:28952
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020