DO_rare_slim has material basis in autosomal recessive intellectual developmental disorder neurodevelopmental disorder with progressive spasticity and brain abnormalities MIM:621102 UMLS_CUI:C6012700 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. DOID:0070816 NEDPSB UMLS_CUI:C6012700 disease_ontology MIM:621102 autosomal recessive inheritance