" /> Trichothiodystrophy 1, photosensitive - CISMeF





Preferred Label : Trichothiodystrophy 1, photosensitive;

Symbol : TTD1;

CISMeF acronym : TTDP; TTD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pibids syndrome; Ichthyosis, congenital, with trichothiodystrophy; Tay syndrome; Trichothiodystrophy with congenital ichthyosis; TTDP; Ichthyosiform erythroderma with hair abnormality and mental and growth retardation; Trichothiodystrophy, photosensitive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision repair, complementing defective, in Chinese hamster, 2 gene (ERCC2, 126340.0001);

Neoplasia : Basal cell carcinoma; Squamous cell carcinoma;

Prefixed ID : #601675;

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03/05/2025


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