hyperphosphatasia with impaired intellectual development syndrome

Term ID

DOID:0070431

Synonyms

• HPMRS
• hyperphosphatasia with mental retardation syndrome
• Mabry disease
• Mabry syndrome

(all 4)

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. (2)

References

• MESH:C565495
• MIM:PS239300
• ORDO:247262
• SNOMEDCT_US_2023_03_01:33982008
• UMLS_CUI:C1855923

(all 5)

Ontology

Human Disease   ( DOID:0070431 )