Disease #00569 (DBS (Donnai-Barrow syndrome (DBS)), OMIM:222448)

Official abbreviation DBS
Name Donnai-Barrow syndrome (DBS)
OMIM ID 222448
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene LRP2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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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     
00131892 - - - M no Italy - >69y - - - DBS - - LRP2 2 1 Franca Anglani
00131950 Case 2 - - M ? Italy African - - - - DBS Hypertelorism (HP:0000316), Broad forehead (HP:0000337), Parietal bossing (HP:0000242), Cryptorchidism (HP:0000028), Low-molecular-weight proteinuria (HP:0003126), Hypercalciuria (HP:0002150), Severe Myopia (HP:0011003), Retinal detachment (HP:0000541) - LRP2 1 1 Mauro Longoni
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