C192092Level 6
Xia-Gibbs Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.
**Synonyms:** - XIGIS
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