Term Name: nonphotosensitive trichothiodystrophy 5
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.
Ontology: Human Disease [DOID:0111868]   ( DOID:0111868 )

Relationships
is a type of: nonphotosensitive trichothiodystrophy X-linked dominant disease