mental retardation autosomal dominant type, 12
mental retardation autosomal dominant type, 12A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech. Other common findings include short stature; abnormal head shape and low-set, abnormally shaped ears; downslanting palpebral fissures; a bulbous nasal tip; a thin upper lip; dental defects; and brachydactyly or single palmar creases.
Defects in ARID1B, which encodes a protein belonging to the neural progenitors-specific chromatin remodelling (npBAF) and the neuron-specific chromatin remodelling (nBAF) complexes, cause mental retardation autosomal dominant type 12.
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