Autozomálně recesivní
Caused by loss of function of both copies of MCPH1 (microcephalin), which regulates the division of brain-forming cells and how chromosomes condense.
Příznaky a projevy
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.
Co se diagnózou změní
Developmental, educational and speech support, with treatment of seizures if they occur. Carrier testing of relatives and genetic counselling are available.
Analyzované geny
Známé také jako
microcephaly with neurodevelopmental phenotypes
Zahrnuje 1 příbuzný podtyp ↓Skrýt podtypy ↑
- microcephaly 1, primary, autosomal recessive
MONDO:0100200Zdroje: [1][2][3]
