Autosomal recessive
Caused by loss of function of both copies of MCPH1 (microcephalin), which regulates the division of brain-forming cells and how chromosomes condense.
Signs and symptoms
A small head from birth with mild to moderate intellectual disability is typical, and brain structure is usually normal. Less often there is short stature, seizures or behavioural differences.
What a diagnosis changes
Developmental, educational and speech support, with treatment of seizures if they occur. Carrier testing of relatives and genetic counselling are available.
Genes analysed
Also known as
microcephaly with neurodevelopmental phenotypes
Includes 1 related subtype ↓Hide subtypes ↑
- microcephaly 1, primary, autosomal recessive
MONDO:0100200Sources: [1][2][3]
