2. Biology Dictionary
  3. Autosomal recessive mental retardation-42

Autosomal recessive mental retardation-42

Definition:

Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy. Homozygous mutation in PGAP1 has been identified.

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