mental retardation autosomal dominant type, 15
mental retardation autosomal dominant type, 15An autosomal dominant condition (OMIM:614608) characterised by multiple congenital anomalies, severe mental retardation and maladaptative behaviour appearing during the developmental period. MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger- or toenails, coarse facies, sparse scalp hair, thick eyebrows, long eyelashes, microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, and hirsutism.
Defects in SMARCB1, which encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex—which plays key roles in cell proliferation and differentiation—cause mental retardation autosomal dominant type 15.
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