ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULESIN THE SKIN

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 601039
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 

1
 (HPO:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0007503) Generalized ichthyosis 1 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
 (OMIM) Unusually large oval keratohyalin granules in granular cells. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Devriendt et al. (1996) described a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis. He was born to consanguineous Turkish parents. The histologic finding in the skin biopsy of unusually large oval keratohyalin granules in ...