| Metadata | |
|---|---|
| ID | DOID:0070431 |
| Name | hyperphosphatasia with impaired intellectual development 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. https://medlineplus.gov/genetics/condition/mabry-syndrome/, https://pubmed.ncbi.nlm.nih.gov/26219719/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:33982008 |
| Subsets |
DO_rare_slim |
| Synonyms |
HPMRS [EXACT] hyperphosphatasia with mental retardation syndrome [EXACT] Mabry disease [EXACT] Mabry syndrome [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |