DO_rare_slim has material basis in autosomal recessive disease neurodevelopmental disorder with seizures and gingival overgrowth A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles. disease_ontology MIM:619323 DOID:0070651 MIM:619323 syndrome autosomal recessive inheritance