Sabinas brittle hair syndrome (DOID:0111874)
Alliance: disease page
Synonyms: brittle hair-mental deficiency syndrome; trichothiodystrophy type B
Alt IDs: OMIM:211390, MESH:C536320, ORDO:3123
Definition: A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.