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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.
- Identifiers
- MONDO:0859262 OMIM:619959
- Causal genes
- UBA2
- Part of
- Hereditary disease
- Also known as
- aplasia cutis congenita with ectrodactyly skeletal syndrome · UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome
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