microcephaly 21, primary, autosomal recessive
MONDO:0054804Mondo
Findings
No curated finding names microcephaly 21, 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
7 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
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.
- NCAPD2HGNC:24305
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019