Disease #04117 (TBRS (Tatton-Brown-Rahman syndrome (TBRS)), OMIM:615879)

Official abbreviation TBRS
Name Tatton-Brown-Rahman syndrome (TBRS)
OMIM ID 615879
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 11
Phenotype entries for this disease 1
Associated with 1 gene DNMT3A
Associated tissues -
Disease features tall stature, distinctive facial appearance, intellectual disability
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

11 entries on 1 page. Showing entries 1 - 11.
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     
00103209 26866722-P1 PubMed: Okamoto 2016, Journal: Okamoto 2016 2 generation family, 1 affected (1M), unaffected non-carrier parents M no Japan - - - - - TBRS overgrowth syndrome with intellectual disability; birth 42w, weight 3980 g, length of 52.3 cm, OFC 36.2 cm; 5y height was 121.2 cm, weight 24.3kg, OFC 56.5cm; developmental delay since early infancy (HP:0001263), delayed motor development (HP:0001270), early eruption of permanent teeth (HP:0006337), heavy horizontal eyebrows (HP:0000574, HP:0011228), narrow down-slanting palpebral fissures Narrow palpebral fissures (HP:0000494, HP:0000581), epicanthal folds (HP:0000286), low set ears (HP:0000369), high palate (HP:0000218) DNMT3A DNMT3A 1 1 Lynn Boekhoudt
00231357 Patient 1 - - M no Spain white - - - - TBRS - - DNMT3A 1 1 Jair Antonio Tenorio
00231367 Patient 2 - - M no Spain white - - - - TBRS - - DNMT3A 1 1 Jair Antonio Tenorio
00231370 Patient 3 - - F no Spain white - - - - TBRS - - DNMT3A 1 1 Jair Antonio Tenorio
00231373 Patient 4 - - F no Spain white - - - - TBRS - - DNMT3A 1 1 Jair Antonio Tenorio
00231374 Patient 5 - - F no Spain white - - - - TBRS - DNMT3A DNMT3A 1 1 Jair Antonio Tenorio
00231375 Patient 6 - - M no Spain - - - - - TBRS - - DNMT3A 1 1 Jair Antonio Tenorio
00245882 Patient 7 - - F no Spain white - - - - TBRS - - DNMT3A 1 1 Jair Antonio Tenorio
00435098 - - - M no Spain white - - - - TBRS - DNMT3A DNMT3A 1 1 Javier Porta
00435101 - - - - - - - - - - - TBRS - DNMT3A DNMT3A 1 1 Javier Porta
00435102 - - - M - - - - - - - TBRS - DNMT3A DNMT3A 1 1 Javier Porta
Legend   How to query  


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