Term Name: neurodevelopmental disorder with progressive spasticity and brain abnormalities
Synonyms: NEDPSB
Definition: An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21.
Ontology: Human Disease [DOID:0070816]   ( DOID:0070816 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder