microcephaly 6, primary, autosomal recessive
Findings
No curated finding names microcephaly 6, 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 CENPJ gene.
Definition from the Mondo Disease Ontology (MONDO:0012029), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Bifid nasal tipHPOHP:0000456
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- MicrotiaHPOHP:0008551
- 2 of 2 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- SeizureHPOHP:0001250
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.
- CPAPHGNC:17272
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: microcephaly 6, primary, autosomal recessive
- Also called
- autosomal recessive primary microcephaly caused by mutation in CENPJCENPJ autosomal recessive primary microcephaly