mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures

Term ID

DOID:0070751

Synonyms

• NEMMLAS

Definition

An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12. https://pubmed.ncbi.nlm.nih.gov/28905505/

References

• MIM:617710
• ORDO:572798
• SNOMEDCT_US_2026_03_01:1260128008
• UMLS_CUI:C4540192

Ontology

Human Disease   ( DOID:0070751 )