" /> Trichothiodystrophy 4, nonphotosensitive - CISMeF





Preferred Label : Trichothiodystrophy 4, nonphotosensitive;

Symbol : TTD4;

CISMeF acronym : ABHS; TTDN1; TTD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ABHS; Trichothiodystrophy-neurocutaneous syndrome; Bids syndrome; Pollitt syndrome; Amish brittle hair brain syndrome; Hair-brain syndrome; TTDN1; Trichothiodystrophy, nonphotosensitive 1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the M-phase specific PLK1 interacting protein (MPLKIP, 609188.0001);

Prefixed ID : #234050;

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03/05/2025


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