Pontocerebellar hypoplasia with infantile spinal muscular atrophy: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The disorder is lethal with death usually occurring within the first year. The brain progressively degenerates. More detailed information about the symptoms, causes, and treatments of Pontocerebellar hypoplasia with infantile spinal muscular atrophy is available below.
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