intellectual disability, autosomal recessive 42
Findings
No curated finding names intellectual disability, autosomal recessive 42 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014348), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
56 features
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.
- Abnormality of the dentitionHPOHP:0000164
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 2 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 2 of 2 reported patients
- Delayed ability to sitHPOHP:0025336
Show the remaining 44
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- Enamel hypoplasiaHPOHP:0006297
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Highly arched eyebrowHPOHP:0002553
- 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.
- PGAP1HGNC:25712
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, autosomal recessive 42
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1intellectual disability, autosomal recessive type 42mental retardation, autosomal recessive type 42neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalitiesPGAP1 autosomal recessive non-syndromic intellectual disability