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HNRNPC-related neurodevelopmental disorder

MONDO:0800457

Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.

0 clinical trials for this condition and its sub-types, 0 tagged with HNRNPC-related neurodevelopmental disorder itself.

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↑ Mendelian neurodevelopmental disorder (208)

Sub-types of HNRNPC-related neurodevelopmental disorder

Intellectual developmental disorder, autosomal dominant 74 0 trials

Including sub-types (0) Tagged with HNRNPC-related neurodevelopmental disorder (0)

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