intellectual disability-sparse hair-brachydactyly syndrome
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
MONDO:0700120
BAFopathy
is_a
NCBRS
related
NICOLAIDES-Baraitser syndrome
related
Nicolaides-Baraitser syndrome
exact
SMARCA2-related BAFopathy
exact
intellectual disability-sparse hair-brachydactyly syndrome
exact
sparse hair and mental retardation
related
SPAC1250.01 SPCC1620.14c