Severe microcephalyGene: TAF13
Reported in two independent consanguineous families, each with two children affected by mild intellectual disability and microcephaly.
15 Aug 2017, 2:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mental retardation, autosomal recessive 60 617432
This gene has been classified as Amber List (Moderate Evidence).
TAF13 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other,Literature
TAF13 was created by ellenmcdonagh