intellectual disability, autosomal recessive 57
Findings
No curated finding names intellectual disability, autosomal recessive 57 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 MBOAT7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014962), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
17 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.
- Global developmental delayHPOHP:0001263
- 16 of 16 reported patients
- HypertoniaHPOHP:0001276
- 16 of 16 reported patients
- Intellectual disabilityHPOHP:0001249
- 16 of 16 reported patients
- Generalized hypotoniaHPOHP:0001290
- 15 of 16 reported patients · Infantile onset
- Delayed ability to walkHPOHP:0031936
- 13 of 16 reported patients
- SeizureHPOHP:0001250
- 10 of 16 reported patients
- Absent speechHPO
Show the remaining 5
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 16 reported patients
- Focal-onset seizureHPOHP:0007359
- 1 of 16 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 16 reported patients
- Axial hypotoniaHPOHP:0008936
- HyperreflexiaHPOHP:0001347
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.
- MBOAT7HGNC:15505
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal recessive 57
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7intellectual developmental disorder, autosomal recessive 57intellectual disability, autosomal recessive type 57MBOAT7 autosomal recessive non-syndromic intellectual disabilitymental retardation, autosomal recessive 57mental retardation, autosomal recessive type 57MRT57