neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Term ID

DOID:0070755

Synonyms

• NDMSCA

Definition

An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/30755616/

References

• MIM:617802

Ontology

Human Disease   ( DOID:0070755 )