childhood hypophosphatasia
Findings
No curated finding names childhood hypophosphatasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.
Definition from the Mondo Disease Ontology (MONDO:1010168), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bowdler spursHPOHP:6000873
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALPLHGNC:438
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: childhood hypophosphatasia
- Also called
- hypophosphatasia of childhoodpediatric hypophosphatasia