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Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.
Features include always present findings: Tented upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Low muscle tone (hypotonia), and Short nose and others; and very common findings: Inability to walk, Seizure, and Large earlobe. 26 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Bilateral tonic-clonic seizure, Inability to walk, Seizure |
Head and neck | 4 | Tented upper lip vermilion, Thin upper lip vermilion, Cleft palate |
Muscles | 2 | Low muscle tone (hypotonia), Delayed gross motor development |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Arms and legs | 1 | Shortening of all distal phalanges of the fingers |
Growth and development | 1 | Growth delay |
PGAP3 function has not been fully characterized.
Hyperphosphatasia with intellectual disability syndrome 4 is caused by mutations in the PGAP3 gene on chromosome 17.
Genetic testing for PGAP3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features, 3 very common features, 6 common features.
No clinical trials have been registered for hyperphosphatasia with intellectual disability syndrome 4.
6 publications have been identified in PubMed for hyperphosphatasia with intellectual disability syndrome 4. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Other (17%).
Beşen Ş (2026). [PMID: 41622609](https://pubmed.ncbi.nlm.nih.gov/41622609/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Salmaninejad A (2026). [PMID: 41866703](https://pubmed.ncbi.nlm.nih.gov/41866703/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Zambiasi A (2025). [PMID: 40514788](https://pubmed.ncbi.nlm.nih.gov/40514788/). *Prenat Diagn*. [Case Report / Case Series]
Thompson MD (2024). [PMID: 38927651](https://pubmed.ncbi.nlm.nih.gov/38927651/). *Genes (Basel)*. [Other]
Mukai T (2024). [PMID: 38967264](https://pubmed.ncbi.nlm.nih.gov/38967264/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Thompson MD (2024). [PMID: 38790248](https://pubmed.ncbi.nlm.nih.gov/38790248/). *Genes (Basel)*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
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