Disease #00066

Official abbreviation RTT
Name Rett syndrome (RTT)
OMIM ID 312750
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 1391
Associated with 1 gene MECP2
Associated tissues -
Disease features -
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Individuals

19 entries on 1 page. Showing entries 1 - 19.
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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
00244436 - - - - - (Italy) - - 0 - - RTT - STXBP1 STXBP1 1 1 Silvia Russo
00244439 - - - - - (Italy) - - 0 - - RTT - GABRG2 GABRG2 1 1 Silvia Russo
00250299 - - - M no Italy - - 0 - - RTT - FOXG1 FOXG1 1 1 Alessandra Renieri
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