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Article

Motor phenotypes associated with genetic neurodevelopmental disorders.

Annals of clinical and translational neurology - 1 Dec 2024

Santana Almansa Alexandra, Snyder LeeAnne Green, Chung Wendy K, Bain Jennifer M, Srivastava Siddharth

Abstract excerpt

OBJECTIVE: There is a growing number of monogenic disorders implicated in neurodevelopmental disorders (NDDs), including autism spectrum disorder and intellectual disability. Motor impairment is frequently seen in these disorders, although not clearly defined. We aimed to characterize the motor phenotype of genetic NDDs. METHODS: We analyzed data from Simons Searchlight, collecting information on patients with...

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Identifiers

PMID: 39487960
DOI: 10.1002/acn3.52231
PMCID: PMC11651173

Genes

CP
HNRNPH2
CTNNB1
GRIN1
GRIN2B
SCN2A

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