neurodevelopmental disorder with microcephaly, ataxia, and seizures

Term ID

DOID:0070754

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. https://pubmed.ncbi.nlm.nih.gov/34570399/

References

• MIM:617709

Ontology

Human Disease   ( DOID:0070754 )