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También se han descrito diversas anomalías oftálmicas, cutáneas, musculoesqueléticas, gastrointestinales y cardiovasculares. La enfermedad es causada por mutaciones patogénicas del gen TAF1 (Xq13.1). La herencia está ligada al cromosoma X."],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/1162976004","http://purl.bioontology.org/ontology/SCTSPA/363070008","http://purl.bioontology.org/ontology/SCTSPA/224958001","http://purl.bioontology.org/ontology/SCTSPA/110359009","http://purl.bioontology.org/ontology/SCTSPA/363235000","http://purl.bioontology.org/ontology/SCTSPA/65094009"],"parents":[{"id":"http://purl.bioontology.org/ontology/SCTSPA/1162976004","prefLabel":"enfermedad hereditaria recesiva ligada al cromosoma X","synonym":["enfermedad hereditaria recesiva ligada al cromosoma X 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