MORM syndrome
Findings
No curated finding names MORM syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.
Definition from the Mondo Disease Ontology (MONDO:0012423), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- Childhood-onset truncal obesityHPOHP:0008915
- 14 of 14 reported patients · Childhood onset
- Delayed speech and language developmentHPOHP:0000750
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- Male
- Very frequent (80% to 99% of cases)
- Truncal obesityHPOHP:0001956
- Childhood onset
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
Show the remaining 8
- Retinal atrophyHPOHP:0001105
- Frequent (30% to 79% of cases)
- Retinal dystrophyHPOHP:0000556
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 0 of 14 reported patients
- SpasticityHPOHP:0001257
- 0 of 14 reported patients
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.
- INPP5EHGNC:21474
- Definitive · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2026
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: MORM syndrome
- Also called
- intellectual disability-truncal obesity-retinal dystrophy-micropenis syndromemental retardation-truncal obesity-retinal dystrophy-micropenis syndromemental retardation, truncal obesity, retinal dystrophy, and micropenis