Disease #00033 (RTT (Rett Syndrome), OMIM:312750)

Official abbreviation	RTT
Name	Rett Syndrome
OMIM ID	312750
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	385
Phenotype entries for this disease	-
Associated with 3 genes	CDKL5, FOXG1, MECP2
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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385 entries on 4 pages. Showing entries 1 - 100.

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Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00003946	Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003947	Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003948	Wan M1, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003949	Huppke P1, Laccone F, Kr?mer N, Engel W, Hanefeld F.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003950	Huppke P1, Laccone F, Kr?mer N, Engel W, Hanefeld F.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003951	Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003952	Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003953	De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003954	De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003955	De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003956	De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003957	Bourdon V1, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P.(2001)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003958	Nielsen JB1, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N.(2001)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003959	Wan M1, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003960	Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003961	Watson P1, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J.(2001)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003962	Watson P1, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J.(2001)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003963	Maiwald R, B?nte A, Jung H, Bitter P, Storm Z, Laccone F, Herkenrath P.(2002)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003964	Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003965	Mnatzakanian GN1, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA.(2004)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003966	Ravn K, Nielsen JB, Schwartz M.(2005)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003967	Geerdink N1, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabre?ls FJ, Mullaart RA, Hamel BC.(2002)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003968	Adegbola AA1, Gonzales ML, Chess A, LaSalle JM, Cox GF.(2009)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003969	Freilinger M, Berndt A, Haas OA.(2009)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003970	Kim SJ1, Cook EH Jr.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003971	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003972	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003973	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003974	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003975	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003976	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003977	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003978	Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003979	Fendri-Kriaa N1, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R, Slama F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation.(2010)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003980	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003981	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003982	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003983	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003984	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003985	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003986	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003987	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003988	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003989	Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003990	Meloni I1, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003991	Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003992	Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003993	Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003994	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003995	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003996	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003997	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003998	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00003999	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004000	Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004001	Hampson K, Woods CG, Latif F, Webb T.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004002	Hampson K, Woods CG, Latif F, Webb T.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004003	Orrico A1, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004004	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004005	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004006	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004007	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004008	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004009	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004010	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004011	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004012	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004013	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004014	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004015	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004016	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004017	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004018	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004019	Nectoux J et al. (2006)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004020	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004021	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004022	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004023	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004024	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004025	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004026	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004027	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004028	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004029	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004030	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004031	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004032	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004033	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004034	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004035	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004036	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004037	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004038	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004039	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004040	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004041	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004042	Dragich J1, Houwink-Manville I, Schanen C.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004043	Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004044	Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang
00004045	Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)	-	-	RTT	-	MECP2	MECP2	1	1	Y Yang

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