Disease #02286 (RP12 (retinitis pigmentosa, with/without PPRPE, type 12 (RP12)), OMIM:600105)

Official abbreviation RP12
Name retinitis pigmentosa, with/without PPRPE, type 12 (RP12)
OMIM ID 600105
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene CRB1
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
Legend  

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     
00037912 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 1 Frans Cremers
00037913 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 3 Frans Cremers
00037914 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 3 Frans Cremers
00037915 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 3 Frans Cremers
00037916 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 1 Frans Cremers
00037917 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 1 1 Frans Cremers
00037918 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 1 Frans Cremers
00037919 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 1 Frans Cremers
00037920 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 2 2 Frans Cremers
00037921 - PubMed: den Hollander 2004 - ? ? ? (unknown) ? - 0 - - RP12 Night blindness, loss of peripheral vision, strabismus CRB1 CRB1 1 1 Frans Cremers
00037941 - PubMed: Booij 2005 - ? no Netherlands Dutch - 0 - - RP12 ? CRB1 CRB1 2 1 Frans Cremers
Legend