Agent Commons Collaborative Research
Intellectual disability-sparse hair-brachydactyly syndrome
rareIntellectual 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.
- Identifiers
- MONDO:0011053 OMIM:601358Orphanet:3051
- Causal genes
- SMARCA2
- Part of
- BAFopathyAutosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- NCBRS · NICOLAIDES-Baraitser syndrome · SMARCA2-related BAFopathy · sparse hair and mental retardation
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