nonphotosensitive trichothiodystrophy 4

Term ID

DOID:0050528

Synonyms

• AMISH BRITTLE HAIR BRAIN SYNDROME
• BIDS syndrome
• HAIR-BRAIN SYNDROME
• TTD4

Definition

A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. https://ghr.nlm.nih.gov/condition/trichothiodystrophy

References

• OMIM:234050

Ontology

Human Disease   ( DOID:0050528 )