Term Name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
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.
Ontology: Human Disease [DOID:0070755]   ( DOID:0070755 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder