microcephaly
MONDO:0001149Mondo
Findings
No curated finding names microcephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.
Definition from the Mondo Disease Ontology (MONDO:0001149), read 2026-09-29. CC BY 4.0.
Genes
9 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.
- LMNB1HGNC:6637
- Strong · Franklin by Genoox · Autosomal dominant · 2020
- LMNB2HGNC:6638
- Moderate · Franklin by Genoox · Autosomal dominant · 2020
- AKT3HGNC:393
- Limited · ClinGen · Autosomal dominant · 2021
- EOMESHGNC:3372
- Limited · PanelApp Australia · Autosomal recessive · 2025
- MSI1HGNC:7330
- Limited · G2P · Autosomal recessive · 2018
- NR2E1HGNC:7973
- Limited · Ambry Genetics · Autosomal dominant · 2024
- SPDL1HGNC:26010
- Limited · Ambry Genetics · Autosomal recessive · 2018
- TEDC1HGNC:20127
- Limited · Ambry Genetics · Autosomal recessive · 2025
- TTI1HGNC:29029
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- Narrower terms (10)
- Amish lethal microcephaly
- isolated congenital microcephaly
- isolated microcephaly
- microcephalic osteodysplastic primordial dwarfism
- microcephaly and chorioretinopathy
- microcephaly with intellectual disability
- microcephaly with lissencephaly and/or hydranencephaly
- microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
- microcephaly, seizures, and developmental delay
Other names
3 names
Resolves to: microcephaly
- Also called
- microcephalusmicrocephaly (disease)microencephaly