Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms – is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.
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