Disease #03823 (NEDSDV;MRD19 (eurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, MRD19)), OMIM:615075)

Official abbreviation NEDSDV;MRD19
Name eurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, MRD19)
OMIM ID 615075
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene CTNNB1
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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     
00080917 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - NEDSDV;MRD19 Mental retardation, autosomal dominant 19 (OMIM:615075) CTNNB1 CTNNB1 1 1 Daniel Trujillano
00081006 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - NEDSDV;MRD19 Mental retardation, autosomal dominant 19 (OMIM:615075) CTNNB1 CTNNB1 1 1 Daniel Trujillano
00380224 182575 - - F no Germany - - 0 - - NEDSDV;MRD19 Delayed speech and language development, Global developmental delay, Gait disturbance, Neurological speech impairment, Language impairment, Poor speech, Embryonal neoplasm, Teratoma, Neurodevelopmental delay, Abnormality of movement, Germ cell neoplasia CTNNB1 CTNNB1 1 1 Andreas Laner
Legend   How to query