nonphotosensitive trichothiodystrophy 5

Term ID

DOID:0111868

Synonyms

• TTD5

Definition

A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (2)

References

• MESH:D054463
• NCI:C156433
• OMIM:300953

Ontology

Human Disease   ( DOID:0111868 )