A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac 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