microcephaly 3, primary, autosomal recessive
Findings
No curated finding names microcephaly 3, 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 CDK5RAP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011488), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Mixed hearing impairmentHPOHP:0000410
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Partial agenesis of the corpus callosumHPOHP:0001338
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 2 of 2 reported patients
- Prominent noseHPO
Show the remaining 1
- Sensorineural hearing impairmentHPOHP:0000407
- 0 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.
- CDK5RAP2HGNC:18672
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: microcephaly 3, primary, autosomal recessive
- Also called
- autosomal recessive primary microcephaly caused by mutation in CDK5RAP2CDK5RAP2 autosomal recessive primary microcephaly