Disease #00029

Official abbreviation HDBSCC
Name hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC)
OMIM ID 613730
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 4
Phenotype entries for this disease 0
Associated with 1 gene JAM3
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000235 - PubMed: Mochida 2010 8-generation family, 8 affecteds F yes United Arab Emirates Baluchistan - - - - HDBSCC - JAM3 JAM3 1 8 Nadia Nakawi
00000236 - - - F yes Turkey - - - - - HDBSCC - JAM3 JAM3 1 1 Nadia Nakawi
00000237 - - - M no Afghanistan - - - - - HDBSCC - JAM3 JAM3 1 2 Nadia Nakawi
00000238 - - - F yes Morocco - - - - - HDBSCC - JAM3 JAM3 1 1 Nadia Nakawi
Legend