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

Orpha code: 600663OMIM code:

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

600663

OMIM code

ICD10 code

ICD11 code

*Soruce

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No additional description.

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

Description of the disease *

Extended description of the disease