DISEASES

Disease-gene associations mined from literature

Human genes for nonphotosensitive trichothiodystrophy

Nonphotosensitive trichothiodystrophy [DOID:0050528]

An autosomal recessive disease that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.

Synonyms:  nonphotosensitive trichothiodystrophy,  DOID:0050528,  nonphotosensitive trichothiodystrophies,  AMISH BRITTLE HAIR BRAIN SYNDROME,  BIDS SYNDROME ...

Linkouts:  OMIM