Disease #00065 (Rett syndrome (Rett syndrome, congenital variant), OMIM:613454)

Official abbreviation Rett syndrome
Name Rett syndrome, congenital variant
OMIM ID 613454
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 33
Phenotype entries for this disease 36
Associated with 1 gene FOXG1
Associated tissues -
Disease features -
Remarks -
Date created 2012-10-31 14:44:58 +01:00 (CET)
Date last edited 2022-05-30 12:45:18 +02:00 (CEST)


Individuals

33 entries on 1 page. Showing entries 1 - 33.
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     
00000242 - PubMed: Le Guen 2011 - M - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000247 - PubMed: Bahi-Buisson 2010 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000253 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000255 - PubMed: Van der Aa 2011 - M - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000256 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000257 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000258 - PubMed: Mencarelli 2010 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000260 - PubMed: Le Guen 2011 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00000268 - PubMed: Bahi-Buisson 2010 - F - - - - - - - Rett syndrome - FOXG1 FOXG1 1 1 RettBASE
00059262 - - - F - United States - - - - - Rett syndrome - - - - 1 Henk van Kranen
00064618 - PubMed: Olson 2015 - F - United States - - - - - Rett syndrome - CDKL5, FOXG1, MECP2, MEF2C, NTNG1, TCF4 MECP2 1 1 Henk van Kranen
00081041 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - Rett syndrome Rett syndrome, congenital variant (OMIM:613454) FOXG1 FOXG1 1 1 Daniel Trujillano
00114879 19377263-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114885 19377268-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114887 - - - F - Greece - - - - - Rett syndrome Rett syndrome CDKL5 CDKL5 1 1 Marianna Kouskou
00114917 19377294-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114927 19377299-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114928 19377300-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114929 19377301-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114933 19377305-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114946 19377317-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome - CDKL5 - - 1 Lucy Raymond
00114948 19377319-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome - CDKL5 - - 1 Lucy Raymond
00114949 19377320-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome - CDKL5 - - 1 Lucy Raymond
00114956 19377327-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114960 19377331-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114961 19377332-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, atypical; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114962 19377333-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114973 19377344-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00391789 161P - - F no Spain - - - - - Rett syndrome - - FOXG1 1 1 Alejandro Brea-Fernández
00410464 patient PubMed: Politano 2022 - F no Italy - - - - - Rett syndrome Microcephaly Hypotonia Gait disturbance Intellectual disability Absent speech Aggressive behavior Partial agenesis of the corpus callosum Absent septum pellucidum NEUROD2 NEUROD2 1 1 Edoardo Errichiello
00432295 199556 - - F no Germany - - - - - Rett syndrome Delayed speech and language development, Delayed gross motor development, Impaired social interactions, Axial hypotonia, Abnormal intestine morphology, Chronic diarrhea, Delayed fine motor development FOXG1 FOXG1 1 1 Andreas Laner
00434057 - - - - - - - - - - - Rett syndrome intellectual disability, developmental delay - MECP2 1 1 Marketa Wayhelova
00442049 270268 - - F no Germany - - - - - Rett syndrome Autistic behavior, Delayed speech and language development, Neurodevelopmental delay MECP2 MECP2 1 1 Andreas Laner
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.