MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MORM SYNDROME
Number of Symptoms 0
OrphanetNr:
OMIM Id: 610156
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hampshire et al. (2006) reported a consanguineous Pakistani kindred in which 14 individuals were affected with an autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital nonprogressive retinal dystrophy, and micropenis in males. The authors suggested ...
Molecular genetics OMIM In affected members of a family with MORM syndrome, Jacoby et al. (2009) identified a homozygous mutation (Q627X; 613037.0001) in the INPP5E gene. In vitro functional expression studies showed that the mutant protein had impaired localization in cilia ...