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GRIN1-related complex neurodevelopmental disorder

MONDO:1060123

A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria.

Also known as: GRIN1-related developmental and epileptic encephalopathy, GRIN1-related neurodevelopmental disorder

24 clinical trials for this condition and its sub-types.

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Sub-types

Developmental and epileptic encephalopathy 101 (0) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (0) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Human disease (14) Hereditary neurological disease (5) Complex neurodevelopmental disorder (3) Disease of genetic or genomic mechanism (2) GRIN-related complex neurodevelopmental disorder (2) Disease by body system or component (0)
Trials to join now! 12 Not yet recruiting 5 Not yet finished but already full! 2 Completed 5
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