Disease #00006 (ML III (Mucolipidosis III alpha/beta), OMIM:252600)

Official abbreviation ML III
Name Mucolipidosis III alpha/beta
OMIM ID 252600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene GNPTAB
Associated tissues -
Disease features -
Remarks -


Individuals

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

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Consanguinity     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000092 - M Afghanistan yes - ML III - GNPTAB GNPTAB 1 1 Variome.ir
Legend   How to query