microcephaly 29, primary, autosomal recessive
MONDO:0031060Mondo
Findings
No curated finding names microcephaly 29, 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
17 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.
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Emotional labilityHPOHP:0000712
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Primary microcephalyHPOHP:0011451
- 2 of 2 reported patients · Congenital onset
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- StrabismusHPOHP:0000486
- 2 of 2 reported patients
- Thick eyebrowHPOHP:0000574
- 2 of 2 reported patients
- Enlarged cerebellumHPOHP:0012081
- 1 of 2 reported patients
- High foreheadHPOHP:0000348
- 1 of 2 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 2 reported patients
Show the remaining 5
- Hypoplastic philtrumHPOHP:0005326
- 1 of 2 reported patients
- Pointed chinHPOHP:0000307
- 1 of 2 reported patients
- Reduced renal corticomedullary differentiationHPOHP:0005565
- 1 of 2 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 2 reported patients
- AtaxiaHPOHP:0001251
- 0 of 2 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.
- PDCD6IPHGNC:8766
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · LiferaOmics · Autosomal recessive · 2026
Where it sits
Other names
1 name
Resolves to: microcephaly 29, primary, autosomal recessive
- Also called
- MCPH29