microcephaly 4, primary, autosomal recessive
MONDO:0011437Mondo
Findings
No curated finding names microcephaly 4, 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
11 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.
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Low hanging columellaHPOHP:0009765
- 4 of 4 reported patients
- Primary microcephalyHPOHP:0011451
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Sloping foreheadHPOHP:0000340
- 4 of 4 reported patients
- SynophrysHPOHP:0000664
- 4 of 4 reported patients
- Thick eyebrowHPOHP:0000574
- 4 of 4 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 0 of 4 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.
- KNL1HGNC:24054
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018