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Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities

Summary

Excerpted from the GeneReview: GNAI1-Related Neurodevelopmental Disorder
GNAI1-related neurodevelopmental disorder (GNAI1-NDD) is characterized by mild-to-profound developmental delay and intellectual disability, hypotonia, neurobehavioral and/or psychiatric manifestations, and epilepsy. The neurobehavioral and/or psychiatric manifestations include features of autism spectrum disorder such as stereotypic behaviors (hand flapping, head banging, hand wringing, repetitive noises, teeth grinding, mouthing behaviors), sensory sensitivities, and poor eye contact. Temper tantrums, anxiety, agitation, aggression, and attention-deficit/hyperactivity disorder are also reported. Seizure onset typically occurs within the first six months of life; seizure types include absence, generalized tonic-clonic, and focal-onset impaired awareness. Additional common features include scoliosis, hip dysplasia, feeding difficulties or obesity with insatiable appetite, constipation, and strabismus.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Emily Bonkowski
Esmat Fathi
Heather C Mefford
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Genes See tests for all associated and related genes

  • Also known as: Gi, HG1B, NEDHISB, GNAI1
    Summary: G protein subunit alpha i1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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