Disease #00066

Official abbreviation RTT
Name Rett syndrome (RTT)
OMIM ID 312750
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 16
Phenotype entries for this disease 1391
Associated with 1 gene MECP2
Associated tissues -
Disease features -
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Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00024234 - PubMed: Gilissen 2014 - - - - - 16y 0 - - ID, RTT , severe ID, epilepsy, cerebral atrophy without structural defects, short stature, head circumference -2 SD, hypotonic appearance, mild upslanting palpebral fissures, prominent philtrum; 16y-sudden unexplained death MECP2 MECP2 1 1 Johan den Dunnen
00079636 - PubMed: Olson 2015 no classical or atypical Rett F - United States - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079637 - PubMed: Olson 2015 - F - United States - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079638 - Poster Genetic Retrait Rolduc 2105, Jones, Basehore, MvGee, Kubiak, Butler, King, Lee, Friez. Greenwood Genetic Center no classical Rett F - United States - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079639 - Poster Genetic Retrait Rolduc 2105, Jones, Basehore, MvGee, Kubiak, Butler, King, Lee, Friez. Greenwood Genetic Center autism F - United States - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079640 - PubMed: Gungor 2015 - F - Turkey caucasian - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079641 - PubMed: Bhanushali 2016 - F - India Indian - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079643 - PubMed: Grozeva 2015 - M - United Kingdom (Great Britain) - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079644 - PubMed: Grozeva 2015 - F - United Kingdom (Great Britain) - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079645 - PubMed: Grozeva 2015 - M - United Kingdom (Great Britain) - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079646 - PubMed: Grozeva 2015 - M - United Kingdom (Great Britain) - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079655 - PubMed: Trump - F - United Kingdom (Great Britain) - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079658 - PubMed: Trump - F - United Kingdom (Great Britain) - - 0 - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00080901 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - RTT Rett syndrome (OMIM:312750) MECP2 MECP2 1 1 Daniel Trujillano
00080966 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - RTT Rett syndrome (OMIM:312750) MECP2 MECP2 1 1 Daniel Trujillano
00092254 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - RTT, Hepatic methionine adenosyltransferase deficiency high methionine, ID, epilepsy, autism, ataxia, developmental regression, cerebral folate deficiency (Rett Syndrome) MAT1A, MECP2 - 0 1 Johan den Dunnen
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