hyperphosphatasia with impaired intellectual development syndrome (DOID:0070431)
Alliance: disease page
Synonyms: HPMRS; hyperphosphatasia with mental retardation syndrome; Mabry disease; Mabry syndrome
Alt IDs: MESH:C565495, OMIM:PS239300, ORDO:247262, UMLS_CUI:C1855923
Definition: 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.