A neurodevelopmental disorder caused by variation in the WDR5 gene. This disorder is characterised by speech and language delay, motor development delay and/or intellectual disability. Other phenotypic features commonly reported include hypotonia, epilepsy, and behavioural abnormalities.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
microcephaly and chorioretinopathy
MONDO:0000181
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
autosomal dominant primary microcephaly
MONDO:0007988
Prader-Willi syndrome
MONDO:0008300
Smith-Magenis syndrome
MONDO:0008434
microcephalic osteodysplastic primordial dwarfism type I
MONDO:0008871