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

Official abbreviation -
Name Rett syndrome, congenital variant
OMIM ID 613454
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 28
Phenotype entries for this disease 32
Associated with 1 gene FOXG1
Associated tissues -
Disease features -
Remarks -


Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00000242 - PubMed: Le Guen 2011 - M - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000247 - PubMed: Bahi-Buisson 2010 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000253 - PubMed: Mencarelli 2010 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000255 - PubMed: Van der Aa 2011 - M - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000256 - PubMed: Mencarelli 2010 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000257 - PubMed: Mencarelli 2010 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000258 - PubMed: Mencarelli 2010 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000260 - PubMed: Le Guen 2011 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00000268 - PubMed: Bahi-Buisson 2010 - F - - - - 0 - - Rett syndrome, congenital variant - FOXG1 FOXG1 1 1 RettBASE
00059262 - - - F - United States - - 0 - - Rett syndrome, congenital variant - - - 0 1 Henk van Kranen
00064618 - PubMed: Olson 2015 - F - United States - - 0 - - Rett syndrome, congenital variant - CDKL5, FOXG1, MECP2, MEF2C, NTNG1, TCF4 MECP2 1 1 Henk van Kranen
00081041 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - Rett syndrome, congenital variant Rett syndrome, congenital variant (OMIM:613454) FOXG1 FOXG1 1 1 Daniel Trujillano
00114879 19377263-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114885 19377268-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114887 - - - F - Greece - - 0 - - Rett syndrome, congenital variant Rett syndrome CDKL5 CDKL5 1 1 Marianna Kouskou
00114917 19377294-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114927 19377299-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114928 19377300-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114929 19377301-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114933 19377305-Pat? PubMed: Tarpey 2009 - F - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114946 19377317-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant - CDKL5 - 0 1 Lucy Raymond
00114948 19377319-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant - CDKL5 - 0 1 Lucy Raymond
00114949 19377320-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant - CDKL5 - 0 1 Lucy Raymond
00114956 19377327-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114960 19377331-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114961 19377332-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome, atypical; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114962 19377333-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
00114973 19377344-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome, congenital variant Rett syndrome, variant, infantile spasms; Rett syndrome? CDKL5 CDKL5 1 1 Lucy Raymond
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