" /> Sabinas brittle hair syndrome - CISMeF





Preferred Label : Sabinas brittle hair syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brittle hair and mental deficit;

Description : The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal (Howell et al., 1980).;

Inheritance : Autosomal recessive;

Prefixed ID : %211390;

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29/07/2025


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