microcephaly 6 with or without short stature
Findings
No curated finding names microcephaly 6 with or without short stature yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.
Definition from the Mondo Disease Ontology (MONDO:0700054), read 2026-09-29. CC BY 4.0.
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.
- CPAPHGNC:17272
- Definitive · ClinGen · Autosomal recessive · 2022
Where it sits
- Narrower terms (2)