Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated alkaline phosphatase
Very frequent (80-99%)HP:0003155
Epilepsy
Very frequent (80-99%)HP:0001250
Hypotonia, early
Very frequent (80-99%)HP:0008947
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Shortening of all outermost bones of the fingers
Very frequent (80-99%)HP:0006118
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Funny looking face
Frequent (30-79%)HP:0001999
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Growth failure
Frequent (30-79%)HP:0001510
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Inverted V-shaped upper lip
Frequent (30-79%)HP:0010804
Mental-retardation
Frequent (30-79%)HP:0001249
Wide palpebral fissure
Frequent (30-79%)HP:0000637
2 vessel cord
Occasional (5-29%)HP:0001195
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Abnormal parietal bone morphology
Occasional (5-29%)HP:0002696
Accessory nipples
Occasional (5-29%)HP:0002558
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Anteriorly displaced anus
Occasional (5-29%)HP:0001545
ASD
Occasional (5-29%)HP:0000729
Ataxia
Occasional (5-29%)HP:0001251
Bulbous nose
Occasional (5-29%)HP:0000414
Cerebral hypomyelination
Occasional (5-29%)HP:0006808
Coarse face
Occasional (5-29%)HP:0000280
Convex bridge of nose
Occasional (5-29%)HP:0000426
Curvature of digit
Occasional (5-29%)HP:0030084
Decreased amniotic fluid index
Occasional (5-29%)HP:0001562
Decreased head circumference
Occasional (5-29%)HP:0040195
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Quick Facts
- SNOMED CT
- 33982008
- UMLS CUI
- C1855923
- Fully Specified Name
- Hyperphosphatasemia with intellectual disability (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.