Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hyperphosphatasia with intellectual disability syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated circulating alkaline phosphatase concentration, Low muscle tone (hypotonia), Short distal phalanx of finger, and Intellectual disability and others; and very common findings: Hypertelorism, Downturned corners of mouth, Broad nasal tip, and Wide nasal bridge. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Cerebral cortical atrophy, Seizure, Severe intellectual disability
Head and neck	5	Tented upper lip vermilion, Thin upper lip vermilion, Cleft palate
Muscles	3	Cerebral cortical atrophy, Low muscle tone (hypotonia), Generalized hypotonia
Arms and legs	3	Short distal phalanx of finger, Tapered finger, Short toe
Skin	2	Small nail, Hyperconvex nail
Ears	2	Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment)
Digestive system	2	Constipation, Feeding difficulties
Lab test results	1	Elevated circulating alkaline phosphatase concentration
Kidneys and urinary system	1	Abnormal renal morphology
Heart and blood vessels	1	Abnormal heart morphology
Bones and joints	1	Delayed ossification of carpal bones

Age of onset: infancy.

Kisho

hyperphosphatasia with intellectual disability syndrome 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

hyperphosphatasia with intellectual disability syndrome 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team