DO_rare_slim autosomal recessive intellectual developmental disorder hyperphosphatasia with impaired intellectual development syndrome MIM:PS239300 DOID:0070431 An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. HPMRS MIM:PS239300 UMLS_CUI:C1855923 MESH:C565495 SNOMEDCT_US_2025_09_01:33982008 UMLS_CUI:C1855923 Mabry disease Mabry syndrome ORDO:247262 disease_ontology ORDO:247262 hyperphosphatasia with mental retardation syndrome