NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance


Engelsk navn: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance


Definisjon

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.

Fra Orphanet

ORPHA: 600663
Klassifiseringsnivå: Disorder
ICD-10: G96.8

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Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
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