Term Name: hyperphosphatasia with impaired intellectual development syndrome
Synonyms: HPMRS, hyperphosphatasia with mental retardation syndrome, Mabry disease, Mabry syndrome
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.
Ontology: Human Disease [DOID:0070431]   ( DOID:0070431 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder
has subtype: hyperphosphatasia with impaired intellectual development syndrome 1 hyperphosphatasia with impaired intellectual development syndrome 2 hyperphosphatasia with impaired intellectual development syndrome 3 hyperphosphatasia with impaired intellectual development syndrome 4 hyperphosphatasia with impaired intellectual development syndrome 5 hyperphosphatasia with impaired intellectual development syndrome 6