Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.
Comprehensive, easy-to-understand information about this condition
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intellectual disability, autosomal dominant 22
MONDO:0012869
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
MONDO:0013266
intellectual disability, autosomal dominant 33
MONDO:0014580
intellectual disability, autosomal dominant 41
MONDO:0014842
intellectual disability, autosomal dominant 43
MONDO:0014858
intellectual disability, autosomal dominant 58
MONDO:0020847