Any neurodevelopmental disorder in which the cause of the disease is a variation in the CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism.
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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