neurodevelopmental disorder with variable motor and speech impairment

Term ID

DOID:0070756

Synonyms

• NEDMIAL

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. (2)

References

• ICD10CM:G11.8
• MIM:617804
• ORDO:647788
• SNOMEDCT_US_2026_03_01:1363573005

Ontology

Human Disease   ( DOID:0070756 )