mental retardation autosomal dominant type, 15

An 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.
Molecular pathology
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.

单词	mental retardation autosomal dominant type, 15
释义	mental retardation autosomal dominant type, 15 mental retardation autosomal dominant type, 15 An 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. Molecular pathology 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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