Disease #06021 (CAKUTHED (Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay), OMIM:617641)

Official abbreviation CAKUTHED
Name Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
OMIM ID 617641
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PBX1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


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     
00433666 - - - - - - - - - - - CAKUTHED intellectual disability, autism, outer ear abnormality - PBX1 1 1 Marketa Wayhelova
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.