Search Ontology:
Human Disease
hyperphosphatasia with impaired intellectual development syndrome
- Term ID
- DOID:0070431
- Synonyms
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- 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. (2)
- References