Disease #06865 (SHUVER (Shukla-Vernon syndrome), OMIM:301029)

Official abbreviation SHUVER
Name Shukla-Vernon syndrome
OMIM ID 301029
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene BCORL1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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     
00399568 - - - M no China - - - - - SHUVER Exotropia,Scoliosis BCORL1 BCORL1 1 1 Yang Zhang
00436188 257851 - - M no Germany - - - - - SHUVER Delayed speech and language development, Specific learning disability, EEG abnormality, Attention deficit hyperactivity disorder, Delayed fine motor development, Neurodevelopmental delay, Severe temper tantrums BCORL1 BCORL1 1 1 Andreas Laner
Legend   How to query