Any neurodevelopmental disorder in which the cause of the disease is a mutation in the MYCBP2 gene. This condition is characterized by variable corpus callosum defects consistent with dysgenesis, and a broad spectrum of neurobehavioural deficits including developmental delay, intellectual disability, epilepsy, and autistic features.
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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