ACCES syndrome
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.
MONDO:0003847
hereditary disease
is_a
UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome
exact
aplasia cutis congenita with ectrodactyly skeletal syndrome
exact
SPBC16H5.03c