Warburg Micro Syndrome 3 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Mental diseases
Aliases & Descriptions for Warburg Micro Syndrome 3:
warburg micro syndrome 3:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases, Mental diseases
UniProtKB/Swiss-Prot:68 Warburg micro syndrome 3: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
MalaCards based summary: Warburg Micro Syndrome 3, also known as micro syndrome 3, is related to warburg micro syndrome 1, and has symptoms including seizures, seizures and scrotal hypoplasia. An important gene associated with Warburg Micro Syndrome 3 is RAB18 (RAB18, Member RAS Oncogene Family).
Description from OMIM:50 614222
Diseases in the Warburg Micro Syndrome family:
Diseases related to Warburg Micro Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Warburg Micro Syndrome 3:(show all 32)
UMLS symptoms related to Warburg Micro Syndrome 3:seizures
UniProtKB/Swiss-Prot genetic disease variations for Warburg Micro Syndrome 3:68
Clinvar genetic disease variations for Warburg Micro Syndrome 3:5
Search GEO for disease gene expression data for Warburg Micro Syndrome 3.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet