Term Name: mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures
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.
Ontology: Human Disease [DOID:0070751]   ( DOID:0070751 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder