Autoszomális recesszív
Caused by loss of function of both copies of MCPH1 (microcephalin), which regulates the division of brain-forming cells and how chromosomes condense.
Tünetek és jelek
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.
Mit változtat a diagnózis
Developmental, educational and speech support, with treatment of seizures if they occur. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
microcephaly with neurodevelopmental phenotypes
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- microcephaly 1, primary, autosomal recessive
MONDO:0100200Források: [1][2][3]
