Sabinas brittle hair syndrome

Term ID

DOID:0111874

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. https://pubmed.ncbi.nlm.nih.gov/7325159/

References

• MESH:C536320
• OMIM:211390
• ORDO:3123

Ontology

Human Disease   ( DOID:0111874 )