Disease #00065

Official abbreviation -
Name Rett syndrome, congenital variant
OMIM ID 613454
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 19
Phenotype entries for this disease 32
Associated with 1 gene FOXG1
Associated tissues -
Disease features -
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Individuals

19 entries on 1 page. Showing entries 1 - 19.
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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 - Trujillano et al., submitted 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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