ACCES syndrome

MONDO:0859262

A rare congenital disease caused by a mutation in the UBA2 gene, charcterized by scalp defects, digital and skeletal anomalies, early growth deficiency, and neurodevelopmental delay. Ectrodactyly presents in some cases.

Also known as: UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome, aplasia cutis congenita with ectrodactyly skeletal syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with ACCES syndrome itself.

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↑ Hereditary disease (18187)

Including sub-types (0) Tagged with ACCES syndrome (0)

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