A neurodevelopmental disorder caused by variation in the DIP2C gene. This disorder is characterised by developmental delay primarily affect expressive language and speech articulation. Other variable and non-specific phenotypic features include behavioural abnormalities, variable facial anomalies, hypotonia, and structural cardiac anomalies.
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