Disease #00748

Official abbreviation TTD
Name trichothiodystrophy (TTD)
OMIM ID -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 4 genes ERCC2, ERCC3, GTF2H5, MPLKIP
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00049514 - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - 1 - - TTD brittle hair, ichtyosis GTF2E2 GTF2E2 1 1 Johan den Dunnen
00181520 R_2696 - - M no Poland white >00y04m 0 - - TTD - - GTF2H5 2 1 Rafał Płoski
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