Term Name: | Sabinas brittle hair syndrome |
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Synonyms: | brittle hair-mental deficiency syndrome, trichothiodystrophy type B |
Definition: | A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. |
Ontology: | Human Disease [DOID:0111874] ( DOID:0111874 ) |