microcephaly 14, primary, autosomal recessive
Findings
No curated finding names microcephaly 14, 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 SASS6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014623), read 2026-09-29. CC BY 4.0.
- 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.
- Aggressive behaviorHPOHP:0000718
- 4 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Poor speechHPOHP:0002465
- 4 of 4 reported patients
- Primary microcephalyHPOHP:0011451
- 4 of 4 reported patients · Congenital onset
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- SeizureHPO
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.
- SASS6HGNC:25403
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Moderate · G2P · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: microcephaly 14, primary, autosomal recessive
- Also called
- autosomal recessive primary microcephaly caused by mutation in SASS6SASS6 autosomal recessive primary microcephaly