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Disease Ontology Browser
neurodevelopmental disorder with variable motor and speech impairment (DOID:0070756)
Alliance: disease page
Synonyms: NEDMIAL
Alt IDs: OMIM:617804, ICD10CM:G11.8, ORDO:647788
Definition: An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
06/09/2026
MGI 6.24 		The Jackson Laboratory