Disease #00075 (MKS-3 (Meckel syndrome, type 3 (MKS-3)), OMIM:607361)

Official abbreviation MKS-3
Name Meckel syndrome, type 3 (MKS-3)
OMIM ID 607361
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene TMEM67
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00092243 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother/father unknown M - United States - - 0 - - MKS-3 mild IDD, adolescent-onset dementia, vertical gaze palsy, ataxia, ADHD, cerebellar atrophy at age 8y (molar tooth sign at age 22y, after diagnosis established), hepatosplenomegaly,progressive hepatic fibrosis, portal hypertension,; lysosomal storage disease phenotype TMEM67 TMEM67 1 1 Johan den Dunnen
Legend   How to query