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Features include always present findings: Profound intellectual disability and Global developmental delay; and very common findings: Seizure, Low muscle tone (hypotonia), and Severe global developmental delay. 40 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 15 | Hyporeflexia, Brain shrinkage (cerebral atrophy), Absent speech |
Muscles | 6 | Brain shrinkage (cerebral atrophy), Severe muscular hypotonia, Generalized hypotonia |
Bones and joints | 3 | Joint hypermobility, Hyperextensibility of the finger joints, Hypermobility of toe joints |
Growth and development | 2 | Intrauterine growth retardation, Growth delay |
Head and neck | 2 | Abnormal facial shape, Thin upper lip vermilion |
Arms and legs | 2 | Hyperextensibility of the finger joints, Hypermobility of toe joints |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Digestive system | 1 | Feeding difficulties |
Age of onset: at birth.
PIGG function has not been fully characterized.
Intellectual disability, autosomal recessive 53 is associated with mutations in the PIGG gene on chromosome 4.
Genetic testing for PIGG is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual disability, autosomal recessive 53 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 3 very common features, 13 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for intellectual disability, autosomal recessive 53.
8 publications have been identified in PubMed for intellectual disability, autosomal recessive 53. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (38%), and Diagnostic / Biomarker (13%).
Yavas C (2026). [PMID: 41604004](https://pubmed.ncbi.nlm.nih.gov/41604004/). *Mol Biol Rep*. [Case Report / Case Series]
Dudic A (2026). [PMID: 40824224](https://pubmed.ncbi.nlm.nih.gov/40824224/). *J Pediatr Orthop*. [Case Report / Case Series]
Trilla P (2026). [PMID: 41758270](https://pubmed.ncbi.nlm.nih.gov/41758270/). *Cell Mol Neurobiol*. [Case Report / Case Series]
Xu X (2025). [PMID: 41121497](https://pubmed.ncbi.nlm.nih.gov/41121497/). *J Int Med Res*. [Case Report / Case Series]
Sandal S (2024). [PMID: 37804371](https://pubmed.ncbi.nlm.nih.gov/37804371/). *Indian J Pediatr*. [Diagnostic / Biomarker]
Dahawi M (2024). [PMID: 39574152](https://pubmed.ncbi.nlm.nih.gov/39574152/). *Hum Genomics*. [Review / Meta-Analysis]
Wang J (2024). [PMID: 39344621](https://pubmed.ncbi.nlm.nih.gov/39344621/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Aguirre AS (2024). [PMID: 39548419](https://pubmed.ncbi.nlm.nih.gov/39548419/). *BMC Pediatr*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center