DEAF1-associated neurodevelopmental disorder
A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.
MONDO:0100038
complex neurodevelopmental disorder
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MONDO:0100500
Mendelian neurodevelopmental disorder
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