Intellectual disability-sparse hair-brachydactyly syndrome

MONDO:0011053

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

Also known as: Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy, intellectual disability-sparse hair-brachydactyly syndrome, NBs, NCBRS, NICOLAIDES-Baraitser syndrome, sparse hair and intellectual disability, sparse hair and mental retardation

0 clinical trials for this condition and its sub-types, 0 tagged with Intellectual disability-sparse hair-brachydactyly syndrome itself.

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↑ Congenital nervous system disorder (284) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Autosomal dominant syndromic intellectual disability (15) ↑ BAFopathy (0)

Including sub-types (0) Tagged with Intellectual disability-sparse hair-brachydactyly syndrome (0)

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