Disease #05385

Official abbreviation CSS-1;MRD-12
Name Coffin-Siris syndrome, type 1 (CSS-1, mental retardation, autosomal dominant, type 12 (MRD-12))
OMIM ID 135900
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ARID1B
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080903 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - CSS-1;MRD-12 Mental retardation, autosomal dominant 12 (OMIM:614562) ARID1B ARID1B 1 1 Daniel Trujillano
00080976 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - CSS-1;MRD-12 Mental retardation, autosomal dominant 12 (OMIM:614562) ARID1B ARID1B 1 1 Daniel Trujillano
Legend