autosomal recessive primary microcephaly
Findings
No curated finding names autosomal recessive primary microcephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Definition from the Mondo Disease Ontology (MONDO:0016660), read 2026-09-29. CC BY 4.0.
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.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Gray matter heterotopiaHPOHP:0002282
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Sloping foreheadHPOHP:0000340
- Very frequent (80% to 99% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Very frequent (80% to 99% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Very frequent (80% to 99% of cases)
- Abnormal cortical bone morphologyHPOHP:0003103
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
Show the remaining 5
- Hypoplasia of the frontal lobesHPOHP:0007333
- Frequent (30% to 79% of cases)
- PachygyriaHPOHP:0001302
- Frequent (30% to 79% of cases)
- Unilateral renal agenesisHPOHP:0000122
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Frequent (30% to 79% of cases)
Genes
24 genes
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.
- ASPMHGNC:19048
- Definitive · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- CDK5RAP2HGNC:18672
- Definitive · ClinGen · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- KIF14HGNC:19181
- Definitive · Illumina · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- STILHGNC:10879
- Definitive · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (29)
- microcephalic primordial dwarfism due to ZNF335 deficiency
- microcephaly 1, primary, autosomal recessive
- microcephaly 11, primary, autosomal recessive
- microcephaly 12, primary, autosomal recessive
- microcephaly 13, primary, autosomal recessive
- microcephaly 14, primary, autosomal recessive
- microcephaly 15, primary, autosomal recessive
- microcephaly 16, primary, autosomal recessive
- microcephaly 17, primary, autosomal recessive
- microcephaly 19, primary, autosomal recessive
- microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- microcephaly 20, primary, autosomal recessive
- microcephaly 21, primary, autosomal recessive
- microcephaly 22, primary, autosomal recessive
- microcephaly 23, primary, autosomal recessive
Other names
5 names
Resolves to: autosomal recessive primary microcephaly
- Also called
- MCPHmicrocephalia veramicrocephaly veramicrocephaly, primary autosomal recessivemicrocephaly, primary, autosomal recessive