Disease #00066 (RTT (Rett syndrome (RTT)), OMIM:312750)

Official abbreviation RTT
Name Rett syndrome (RTT)
OMIM ID 312750
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 42
Phenotype entries for this disease 1405
Associated with 1 gene MECP2
Associated tissues -
Disease features -
Remarks -
Date created 2012-10-31 15:08:39 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

42 entries on 1 page. Showing entries 1 - 42.
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00000241 - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000244 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000248 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000249 - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - RTT - FOXG1 ARSA, FOXG1 3 1 RettBASE
00000250 - PubMed: Van der Aa 2011 Rett syndrome - classical F - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000251 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000259 - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000263 - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - RTT - FOXG1 FOXG1 1 1 RettBASE
00000264 Case 1 PubMed: Ariani 2008 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - RTT see paper; ... FOXG1 FOXG1 1 1 Johan den Dunnen
00000265 Pat1 PubMed: Philippe 2010 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - RTT see paper; ..., severe RTT-like neurodevelopmental disorder FOXG1 FOXG1 1 1 Johan den Dunnen
00000266 Case 2 PubMed: Ariani 2008 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - RTT see paper; ... FOXG1 FOXG1 1 1 Johan den Dunnen
00000267 Pat2 PubMed: Philippe 2010 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - RTT see paper; ..., classical clinical RTT presentation. FOXG1 FOXG1 1 1 Johan den Dunnen
00024234 - PubMed: Gilissen 2014 - - - - - 16y - - - 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 - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079637 - PubMed: Olson 2015 - F - United States - - - - - 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 - - - - - 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 - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079640 - PubMed: Gungor 2015 - F - Turkey white - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079641 - PubMed: Bhanushali 2016 - F - India Indian - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079643 - PubMed: Grozeva 2015 - M - United Kingdom (Great Britain) - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079644 - PubMed: Grozeva 2015 - F - United Kingdom (Great Britain) - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079645 - PubMed: Grozeva 2015 - M - United Kingdom (Great Britain) - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079646 - PubMed: Grozeva 2015 - M - United Kingdom (Great Britain) - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079655 - PubMed: Trump - F - United Kingdom (Great Britain) - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00079658 - PubMed: Trump - F - United Kingdom (Great Britain) - - - - - RTT - MECP2 MECP2 1 1 Henk van Kranen
00080901 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - RTT Rett syndrome (OMIM:312750) MECP2 MECP2 1 1 Daniel Trujillano
00080966 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - RTT Rett syndrome (OMIM:312750) MECP2 MECP2 1 1 Daniel Trujillano
00092254 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - - - - RTT, methionine adenosyltransferase deficiency high methionine, ID, epilepsy, autism, ataxia, developmental regression, cerebral folate deficiency (Rett Syndrome) MAT1A, MECP2 - - 1 Johan den Dunnen
00244436 - - - - - (Italy) - - - - - RTT - STXBP1 STXBP1 1 1 Silvia Russo
00244439 - - - - - (Italy) - - - - - RTT - GABRG2 GABRG2 1 1 Silvia Russo
00250299 - - - M no Italy - - - - - RTT - FOXG1 FOXG1 1 1 Alessandra Renieri
00274244 #2239 PubMed: Croci 2020, Journal: Croci 2020 - F no Italy - - - - - RTT Intellectual disability-profound postnatal microcephaly short stature short foot scoliosis bruxism apnea seizures MECP2 MECP2 1 1 Ilaria Meloni
00274245 #2204 - - F no Italy - - - - - RTT postnatal microcephaly short stature intellectual disability-profound gait ataxia MECP2 MECP2 1 1 Ilaria Meloni
00274246 #2271 - - F no Italy - - - - - RTT Intellectual disability-profound gait ataxia intermittent hyperventilation MECP2 MECP2 1 1 Ilaria Meloni
00274247 #304 - - F - Italy - - - - - RTT postnatal microcephaly short stature short foot gait ataxia seizures scoliosis intellectual disability-profound autistic behaviour constipation bruxism gastroesophageal reflux apnea Intermittent hyperventilation MECP2 MECP2 1 1 Ilaria Meloni
00288326 2237/17 - - M no Switzerland - >05y - re - RTT Gastroesophageal reflux Constipation Intellectual disability, severe Poor eye contact Tongue thrusting FOXG1 FOXG1 1 1 Ilaria Meloni
00288333 156 - - F no Italy white >33y - - - RTT Constipation Intellectual disability, severe Motor delay Seizures Dystonia Apraxia Poor eye contact Developmental regression Bruxism Drooling EEG abnormality CDKL5, FOXG1, MECP2 FOXG1 1 1 Ilaria Meloni
00324959 - - - F - - - 27y - - - RTT - - SLC35F1 1 1 Cristina Gervasini
00328886 172067 - - F ? Germany - - - - - RTT (+) Microcephaly,(+) Behavioral abnormality,(+) Muscular hypotonia,(+) Global developmental delay,(+) Motor delay,(+) Pulmonic stenosis,(+) Rigidity,(+) Delayed gross motor development,(+) Myotonia,(+) Abnormality of the musculature,(+) Muscle stiffness,(+) Abnormal muscle tone,(+) Aplasia/Hypoplasia of the cerebrum,(+) Muscular hypotonia of the trunk,(+) Abnormal central motor function,(+) Abnormal muscle physiology,(+) Abnormal social behavior,(+) Neurodevelopmental delay,(+) Abnormal pulmonary valve physiology,(+) Decreased head circumference MECP2 MECP2 1 1 Andreas Laner
00380815 ? PubMed: Nair 2018 - ? - Lebanon - - - - - RTT DD; regression (Neurological) - MECP2 1 1 LOVD
00464350 - - - - - - - - - - - RTT - MECP2 MECP2 1 1 Min Peng
00464351 - - - - - - - - - - - RTT - MECP2 MECP2 1 1 Min Peng
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