microcephaly 28, primary, autosomal recessive
MONDO:0030339Mondo
Findings
No curated finding names microcephaly 28, 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.
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 8 of 8 reported patients · Congenital onset
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 4 of 8 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.
- RRP7AHGNC:24286
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: microcephaly 28, primary, autosomal recessive
- Also called
- MCPH28