Term Name: neurodevelopmental disorder with microcephaly, ataxia, and seizures
Synonyms: NEDMAS
Definition: An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13.
Ontology: Human Disease [DOID:0070754]   ( DOID:0070754 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder