MECP2 list of mutations graph of mutations Rare variants CDKL5 list of mutations graph of mutations Rare variants FOXG1 list of mutations graph of mutations Rare variants Search by Mutated Gene: MECP2:     CDKL5:     FOXG1:     Unknown:    Survival    Mutation Type    Nucleotide Change    AA Change    Phenotype Category

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Code	Internal Code	Phenotype Category	Clinical Score	Mutated Gene	Mutation Type	Nucleotide Change	AA Change	Additional Info	Biological Sample Available	Reference
1	1, Proband 2, father 3, mother	classic Rett	20	MECP2	late truncating	1159-1199del	P387fs		Leucocytes in DMSO medium  1 B   DNA  1    2    3	De Bona et al, 2000
2	4, 5, mother 6, Father	classic Rett	-	MECP2	early truncating	808C>T	R270X		Lymphoblastoid Cell Line  4 B    4   DNA  4    5    6	De Bona et al., 2000
3	8, proband 7, Mother	classic Rett	30	MECP2	early truncating	763C>T	R255X		DNA  8    7	De Bona et al. 2000
4	10, proband 9, mother 11, Unaffected sister 12, Unaffected sister 13, Father	classic Rett	-	MECP2	missense	398G>T	R133L		Lymphoblastoid Cell Line  10   DNA  10    9    11    12    13	De Bona et al, 2000
5	16, proband 14, mother 15, Father 23, Unaffected brother	classic Rett	-	MECP2	early truncating	806-807delG	G269fsX288		DNA  16    14    15    23	De Bona et al, 2000
6	17, proband 18, Mother 19, Father	classic Rett	-	MECP2	missense	917G>A	R306H		DNA  17    18    19
7	20, proband 22, Mother 21, Father 33, Brother	classic Rett	-	MECP2	early truncating	423C>G	Y141X		DNA  20    22    21    33
8	26, proband 25, Father 24, Mother 27, Sister	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  26    25    24    27
9	28, proband 30, Mother 29, Father 31, Sister	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  28    30    29    31
10	32, proband 35, Mother 34, Father	PSV	15	MECP2	late truncating	1159_1202del	L386Xfs		DNA  32    35    34	Zappella et al, 2001 Zappella et al, 1998
11	172, proband 173, mother	PSV	19	MECP2	missense	397C>T	R133C		DNA  172    173
12	39, Proband 37, Mother 36, Father	classic Rett	33	MECP2	early truncating	808C>T	R270X		Leucocytes in DMSO medium  39   DNA  39    37    36
13	40, proband 41, Mother 42, Father	classic Rett	-	MECP2	early truncating	431delA	K144fs		DNA  40    41    42
14	178, proband 177, mother 179, father	PSV	19	MECP2	missense	473C>T	T158M		DNA  178    177    179	Zappella et al, 2001
15	43, Proband 44, Father 45, Mother	classic Rett	20	MECP2	late truncating	1152_1193del	P385Xfs		Leucocytes in DMSO medium  43 B   Lymphoblastoid Cell Line  43   DNA  44    45    43    43B
16	185, proband 186, mother 187, father	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  185    186    187
17	46, proband 47, Father 48, Mother	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  46    47    48
18	51,	classic Rett	30	MECP2	early truncating	808C>T	R270X		Lymphoblastoid Cell Line  51    51   DNA  51
19	52, proband 53, Mother 54, Father 55, brother	classic Rett	23	MECP2	early truncating	880C>T	R294X		DNA  52    53    54    55
20	188, proband 189, mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  188    189
21	203, proband 204, father 197, mother 521, sister 487, maternal grandmother 486, paternal grandmother	forme fruste	22	MECP2	missense	397C>T	R133C		Lymphoblastoid Cell Line  203    204    197   DNA  203    204    197    521    487    486
22	57, proband 58, Father 59, Brother 60, Mother	classic Rett	-	MECP2	missense	674C>G	P225R		DNA  57    58    59    60
23	61, proband 62, Mother 63, Father 68, Brother 69, Brother	classic Rett	20	MECP2	early truncating	880C>T	R294X		DNA  61    62    63    68    69
24	64, proband 65, sister 66, Mother 67, Father	PSV	20	MECP2	missense	472A>G	T158A		DNA  64    65    66    67	Zappella et al, 2001
25	70, proband 78, Mother	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  70    78
26	72, proband 75, mother 76, Father 77, Brother	classic Rett	-	MECP2	early truncating	880C>T	R294X		DNA  72    75    76    77
27	212, mother 213, father 211, proband	forme fruste	13	MECP2	early truncating	808C>T	R270X		DNA  212    213    211
28	71, proband 73, Father 74, Mother	classic Rett	22	MECP2	early truncating	880C>T	R294X		DNA  71    73    74
29	216, proband 215, mother 214, father	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  216    215    214
30	85, proband 429, Father 250, Mother	classic Rett	30	MECP2	late truncating	1116del86	H371fs		DNA  85    429    250
31	87, proband 88, Mother	classic Rett	24	MECP2	early truncating	763C>T	R255X		DNA  87    88
32	223, proband 224, mother 225, father	forme fruste	16	MECP2	missense	455C>G	P152R		DNA  223    224    225
33	191, proband 190, mother	classic Rett	36	MECP2	gene deletion				DNA  191    190
34	402, proband 400, Mother 401, Father	classic Rett	-	MECP2	missense	397C>T	R133C		DNA  402    400    401
35	234, 233, father 232, mother	classic Rett	27	MECP2	early truncating	763C>T	R255X		Lymphoblastoid Cell Line  234 B    234 B   DNA  234    233    232
36	414, proband 424, Father 425, Mother	classic Rett	-	MECP2	early truncating	387del2	G129fs		DNA  414    424    425
37	417, proband 418, Father 419, Mother	classic Rett	27	MECP2	missense	473C>T	T158M		DNA  417    418    419
38	243, proband 242, father 241, mother	classic Rett	-	MECP2	late truncating	1148del47	L383fs		DNA  243    242    241
39	421, proband 422, mother 423, father	classic Rett	-	MECP2	late truncating	1161del6_1180del26	P387fs		DNA  421    422    423
40	386, proband 432, mother 434, father	high functioning PSV	6	MECP2	late truncating	1357C>T	R453X		DNA  386    432    432    434	Zappella et al, 2003
41	244, proband 245, mother 246, father 522, abortive material	classic Rett	27	MECP2	missense	473C>T	T158M		DNA  244    245    246    522
42	435, proband 436, mother	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  435    436
43	624, proband 625, mother 626, father	classic Rett	35	MECP2	early truncating	502C>T	R168X		DNA  624    625    626
44	465, proband 503, father 504, mother	classic Rett	26	MECP2	missense	802C>T	R268W		Lymphoblastoid Cell Line  465   DNA  465    503    504
45	476, proband 474, father 475, mother 602, amniocites (unaffected sister)	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  476    474    475    602
46	262, 257, father 258, mother	classic Rett	-	MECP2	early truncating	808C>T	R270X		Leucocytes in DMSO medium  262   Lymphoblastoid Cell Line  262 b    262b   DNA  262    257    258
47	637, proband 635, father 636, mother	classic Rett	21	MECP2	early truncating	502C>T	R168X		Lymphoblastoid Cell Line  637   DNA  637    635    636
48	477, proband 478, mother 479, father	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  477    478    479
49	642, 643, mother 644, father	classic Rett	35	MECP2	missense	455C>G	P152R		Leucocytes in DMSO medium  642   Lymphoblastoid Cell Line  642 B    642 B   DNA  642    643    644
50	645, 646, mother	classic Rett	31	MECP2	early truncating	763C>T	R255X		Leucocytes in DMSO medium  645   DNA  645    646
51	656, proband 657, father 658, mother	classic Rett	26	MECP2	early truncating	808C>T	R270X		DNA  656    657    658
52	672, proband 673, father 674, mother	PSV	-	MECP2	missense	916C>T	R306C		Leucocytes in DMSO medium  672 B    673 B    674 B   DNA  672    673    674
53	101, proband	classic Rett	32	MECP2	early truncating	763C>T	R255X		DNA  101
54	106, proband 105, mother	classic Rett	27	MECP2	late truncating	1163del6	P388fs		DNA  106    105
55	109, proband 110, father 111, mother	PSV	7	MECP2	late truncating	1159del44	P387fs		DNA  109    110    111	Zappella et al, 2001 Zappella et al, 1998
56	112, father 113, mother 115, proband	classic Rett	-	MECP2	late truncating	1165del69ins21	P389_P411del23ins7		Leucocytes in DMSO medium  112    113   Lymphoblastoid Cell Line  115   DNA  115    112    113
57	280, proband 281, mother 282, father	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  280    281    282
58	117, proband 116, father 118, mother	classic Rett	27	MECP2	early truncating	808C>T	R270X		DNA  117    116    118
59	284, 291, mother 292, father	classic Rett	20	MECP2	late truncating	1163del35	P388fs		Leucocytes in DMSO medium  284   DNA  284    291    292
60	119, proband 121, father 120, mother	PSV	8	MECP2	missense	916C>T	R306C		DNA  119    121    120	Zappella et al, 2001
61	122, mother 124, Proband 125, father	classic Rett	-	MECP2	early truncating	42ins8	E14fs		Leucocytes in DMSO medium  122   Lymphoblastoid Cell Line  124   DNA  124    122    125
62	293, proband 294, mother 295, father	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  293    294    295
63	138, proband 139, affected sister (PSV) 137, mother (carrier) 666, sister	classic Rett	27	MECP2	late truncating	1157del32	L386fs		Leucocytes in DMSO medium  138    139   Lymphoblastoid Cell Line  138    139    137   DNA  138    139    137    666	Zappella et al, 2001
64	143, Proand 142, mother	classic Rett	30	MECP2	early truncating	808C>T	R270X		Fibroblast  143   DNA  143    142
65	144, proband 145, father 146, mother	classic Rett	29	MECP2	missense	917G>A	R306H		DNA  144    145    146
66	149, proband 147, mother 148, father	classic Rett	30	MECP2	early truncating	750_751insC	P251fs		DNA  149    147    148
67	169, proband 167, father 168, mother	PSV	5	MECP2	late truncating	1157del41	L386fs		DNA  169    167    168	Zappella et al, 2001
68	698, proband 699, mother 697, father	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  698    699    697
69	1198, Proband 1199, father 1200, mother	forme fruste	13	MECP2	missense	397C>T	R133C		Lymphoblastoid Cell Line  1198    1198    1198   DNA  1198    1199    1200
70	709, proband 706, father 707, mother 855, affected fetus (proband sister)	classic Rett	35	MECP2	early truncating	567insA	R190fs		Leucocytes in DMSO medium  709   Lymphoblastoid Cell Line  709   DNA  709    706    707    855    855C	Mari et al, 2005
71	710, proband 708, father 711, mother	classic Rett	-	MECP2	early truncating	747_748insCGCCC	P251fs		DNA  710    708    711
72	717, proband 715, father 716, mother	classic Rett	29	MECP2	missense	455C>G	P152R		Leucocytes in DMSO medium  717    715    716   DNA  717    715    716
73	719, father 720, mother 718, proband	classic Rett	20	MECP2	missense	331A>G	R111G		Leucocytes in DMSO medium  719    720    718   Lymphoblastoid Cell Line  718   DNA  718    719    720
74	304, Proband 305, Father 306, mother	classic Rett	27	MECP2	missense	473C>T	T158M		Lymphoblastoid Cell Line  304   DNA  304    305    306
75	730, mother 729, Proband	classic Rett	-	MECP2	early truncating	880C>T	R294X		Leucocytes in DMSO medium  730    729   Fibroblast  729   DNA  729    730
76	315, Proband 316, father 317, mother	classic Rett	27	MECP2	missense	473C>T	T158M		DNA  315    316    317
77	739, father 740, mother 738, proband	classic Rett	26	MECP2	early truncating	889C>T	Q297X		Leucocytes in DMSO medium  739    740   Lymphoblastoid Cell Line  738   DNA  738    739    740
78	1195, 1194, father 1196, mother	Rett-like	-	MECP2	missense	316C>T	R106V		Lymphoblastoid Cell Line  1195    1195   DNA  1195    1194    1196
79	333, proband 335, mother	classic Rett	27	MECP2	early truncating	108del4	K36fs		DNA  333    335
80	749, mother 748, father 747, proband	classic Rett	24	MECP2	missense	916C>T	R306C		Leucocytes in DMSO medium  749    748   Lymphoblastoid Cell Line  747   DNA  747    748    749
81	528, proband 526, father 527, mother	classic Rett	31	MECP2	early truncating	880C>T	R294X		DNA  528    526    527
82	759, proband 755, father 754, mother	classic Rett	36	MECP2	early truncating	763C>T	R255X		Leucocytes in DMSO medium  759    755   Lymphoblastoid Cell Line  754   DNA  759    754    755
83	342, 341, mother	classic Rett	29	MECP2	early truncating	808C>T	R270X		Lymphoblastoid Cell Line  342    342   DNA  342    341
84	533, proband 534, mother 535, father	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  533    534    535
85	343, proband 344, mother 345, father	classic Rett	-	MECP2	late truncating	1163del35	P388fs		DNA  343    344    345
86	554, mother (carrier) 556, proband 555, father	classic Rett	-	MECP2	missense	916C>T	R306C		Leucocytes in DMSO medium  554   Lymphoblastoid Cell Line  554    556   DNA  556    554    555
87	765, affected monozygotic twin sister 766, father 767, mother 764, proband	classic Rett	29	MECP2	missense	473C>T	T158M		Leucocytes in DMSO medium  765    766    767   DNA  764    765    766    767
88	362, Proband 363, Father 364, mother	high functioning PSV	4	MECP2	missense	397C>T	R133C		DNA  362    363    364	Zappella et al, 2003
89	296, Proband 297, mother 298, father	classic Rett	22	MECP2	early truncating	808C>T	R270X		DNA  296    297    298
90	768, proband 769, father 770, mother	classic Rett	21	MECP2	missense	473C>T	T158M		Leucocytes in DMSO medium  768    769    770   DNA  769    770
91	771, proband 772, mother 773, father	classic Rett	27	MECP2	missense	397C>T	R133C		DNA  771    772    773
92	369, Proband 633, Father	classic Rett	34	MECP2	early truncating	502C>T	R168X		Lymphoblastoid Cell Line  369   DNA  369    633
93	776, father 777, proband 778, mother 793, unaffected fetus (proband sibling) 794, unaffected fetus (proband sibling)	classic Rett	-	MECP2	early truncating	880C>T	R294X		Leucocytes in DMSO medium  776   DNA  777    776    778    793    794
94	781, father 782, mother 780, proband	classic Rett	-	MECP2	early truncating	763C>T	R255X		Leucocytes in DMSO medium  781   Lymphoblastoid Cell Line  782   DNA  780    781    782
95	384, Proband 383, Father 382, Mother	classic Rett	29	MECP2	missense	473C>T	T158M		DNA  384    383    382
96	307, 308, Mother 309, Father	PSV	10	MECP2	missense	397C>T	R133C		Leucocytes in DMSO medium  307   DNA  307    308    309	Ref. Ref.
97	360, Proband 361, Mother 366, Father	forme fruste	19	MECP2	late truncating	1163del17	P388fs		DNA  360    361    366
98	550, proband 551, mother 552, father	classic Rett	-	MECP2	late truncating	1157_1188del32	L386fs		Lymphoblastoid Cell Line  550   DNA  550    551    552
99	559, proband 557, mother 558, father	classic Rett	-	MECP2	early truncating	808C>T	R270X		DNA  559    557    558
100	565, proband 567, mother	classic Rett	-	MECP2	late truncating	1163_1188del26	P388fs		Lymphoblastoid Cell Line  565   DNA  565    567
101	481, proband	ND (age less than 4 years)	-	MECP2	missense	473C>T	T158M		DNA  481
102	412, proband 413, mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  412    413
103	505, proband 506, Father 507, mother	early seizures variant	28	CDKL5	early truncating	838_847delTTGGACCCAG	T281fsX284		DNA  505    506    507	Mari et al, 2005
104	571, 572, Pather 573, Mother	classic Rett	25	MECP2	early truncating	502C>T	R168X		Lymphoblastoid Cell Line  571    571   DNA  571    572    573
105	574, 575, Mother 576, Father	classic Rett	-	MECP2	early truncating	808C>T	R270X		Lymphoblastoid Cell Line  574    574   DNA  574    575    576
106	581, Proband 582, Father 583, Mother	classic Rett	27	MECP2	gene deletion				Leucocytes in DMSO medium  581B    582    583   Plasma  581    582    583   DNA  582    583	Ariani et al, 2004
107	585, Proband 586, Father 587, Mother	PSV	20	MECP2	missense	316C>T	R106W		Lymphoblastoid Cell Line  585   DNA  586    587
108	588, Proband 589, Father 590, Mother	PSV	8	MECP2	missense	397C>T	R133C		DNA  588    589    590
109	592,	classic Rett	-	MECP2	early truncating	763C>T	R255X		Lymphoblastoid Cell Line  592    592   DNA  592
110	601, Proband 939, Father	PSV	10	MECP2	late truncating	1163-1207del44	P388fs		Leucocytes in DMSO medium  601   DNA  601    939
111	603, Proband 604, Father 605, Mother 974, DNA from amniocytes (unaffected sister of the prob	PSV	-	MECP2	missense	455C>G	P152R		Lymphoblastoid Cell Line  603   DNA  603    604    605    974
112	608, Proband 606, Father 607, Mother	classic Rett	30	MECP2	missense	916C>T	R306C		Lymphoblastoid Cell Line  608   DNA  608    606    607
113	368, Proband 446, mother 447, Father	PSV	22	MECP2	missense	397C>T	R133C		DNA  368    446    447	Zappella et al, 2001
114	357, proband 463, father 464, mother	classic Rett	-	MECP2	early truncating	808C>T	R270X		DNA  357    463    464
115	612, Proband 846, Father 847, Mother 1072, Proband cousin	PSV	-	Unknown					Leucocytes in DMSO medium  612    612C    846    847    1072   DNA  612    612B    612C    846    847    1072
116	318, proband	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  318
117	338, Proband 340, Father 339, Mother	PSV	20	MECP2	late truncating	1156del33	L386fs		DNA  338    340    339	Zappella et al, 2001 Zappella et al, 1998
118	616, Proband 614, Mother 615, Chorionic villus(unaffected sibling)	classic Rett	-	MECP2	missense	473C>T	T158M		Leucocytes in DMSO medium  616B   DNA  616    614    614B    615
119	850, father 851, mother 849, proband	early seizures variant	27	CDKL5	early truncating	163_166delGAAA	R55fsX74		Leucocytes in DMSO medium  850    851   Lymphoblastoid Cell Line  849 C   DNA  849    849 B    849 C    850    851	Scala et al, 2005
120	950, proband 949, father 1051, mother	early seizures variant	22	CDKL5	late truncating	2343delG	S781fsX783		Lymphoblastoid Cell Line  950 B   DNA  950    950 B    949    1051	Mari et al, 2005
121	975, Healthy sister 902, proband 903, father 904, mother	early seizures variant	29	CDKL5	late truncating	2635_2636delCT	E879fsX908		Lymphoblastoid Cell Line  975    902 C   DNA  902    902 C    903    904	Scala et al, 2005
122	806, father 807, mother 805, proband	classic Rett	20	MECP2	early truncating	119_120delAG	E40fs		Leucocytes in DMSO medium  806    807    805   DNA  805    806    807
123	832, proband 833, mother 834, father	PSV	11	MECP2	missense	397C>T	R133C		Leucocytes in DMSO medium  832    833    834   DNA  832    833    834
124	840, proband 841, father 842, mother	classic Rett	29	MECP2	missense	403A>G	K135E		Leucocytes in DMSO medium  840    841    842   DNA  841    842    840
125	879, proband 2405, Father 1406, Mother	classic Rett	23	MECP2	late truncating	1164_1177del14	P388fs		DNA  879    2405    1406
126	880, proband 881, father 882, mother	ND (age less than 4 years)	21	MECP2	late truncating	1072_1186del114	A358fs		DNA  880    881    882
127	893, 1133, mother 1134, father	classic Rett	-	MECP2	early truncating	763C>T	R255X		Lymphoblastoid Cell Line  893 B    893 B   DNA  1133    1134    893
128	909, proband 910, father 911, mother	Rett-like	19	MECP2	early truncating	695delG	G232fs		Leucocytes in DMSO medium  909    910    911   DNA  909    910    911
129	914, proband 915, father 916, mother	ND (age less than 4 years)	-	MECP2	missense	473C>T	T158M		Leucocytes in DMSO medium  914    915    916   DNA  914    915
130	917, proband 918, father 919, mother	classic Rett	25	MECP2	early truncating	808C>T	R270X		Leucocytes in DMSO medium  917    918    919   Lymphoblastoid Cell Line  917   DNA  917    918    919
131	983, mother 984, father 982, proband	classic Rett	-	MECP2	missense	397C>T	R133C		Leucocytes in DMSO medium  983    984   DNA  982    983    984
132	992, proband	classic Rett	-	MECP2	early truncating	880C>T	R294X		Leucocytes in DMSO medium  992   DNA  992
133	996, proband 997, mother 998, father	classic Rett	-	MECP2	late truncating	1164_1207del44	P388fs		Leucocytes in DMSO medium  996   DNA  996    997    998   bone marrow mesenchimal stem cells  996
134	1018, proband 1019, father 1020, Healthy brother 1021, mother	Rett-like	-	MECP2	late truncating	979_1216del239ins24	T327fs		DNA  1018    1019    1020    1021
135	954, Proband 956, Unaffected sister 957, Mother	classic Rett	20	MECP2	early truncating	763C>T	R255X		Leucocytes in DMSO medium  954   DNA  954    956    957
136	958, Proband 959, Father 960, Mother	classic Rett	31	MECP2	missense	316C>T	R106W		Leucocytes in DMSO medium  958   DNA  958    959    960
137	1066, Proband 1067, Father 1068, Mother	classic Rett	-	MECP2	missense	916C>T	R306C		Leucocytes in DMSO medium  1066    1067    1068   DNA  1066    1067    1068
138	380, proband 378, mother 379, father	classic Rett	29	MECP2	gene deletion				Leucocytes in DMSO medium  380    378    379   Lymphoblastoid Cell Line  380   DNA  380    378    379
139	937, proband 938, mother 940, father	Rett-like	-	Unknown					DNA  937    938    940
140	107, proband 108, mother	forme fruste	-	Unknown					DNA  107    108
141	1035, proband 1036, father 1037, mother	Rett-like	-	Unknown					DNA  1035    1036    1037
142	231, proband 228, father 229, mother	Rett-like	-	Unknown					DNA  231    228    229
143	134, proband 135, father 136, mother	Rett-like	-	Unknown					Leucocytes in DMSO medium  134 B   DNA  134    134 B    135    136
144	493, proband	PSV	-	Unknown					DNA  493
145	207, 208, mother 209, father 485, maternal grand mother 488, paternal grand father	early seizures variant	-	Unknown					Leucocytes in DMSO medium  207 C   DNA  207    208    209    485    488
146	156, proband 155, mother 157, father	congenital	39	FOXG1	early truncating	765G>A	W255X		Leucocytes in DMSO medium  156 B    155 B    157 B   Lymphoblastoid Cell Line  156d   Fibroblast  156   DNA  156    155    155 B    157    157 B	Ariani F. et al., Am J Hum Genet, 2008
147	1043, proband 1044, father 1045, mother	early seizures variant	-	Unknown					DNA  1043    1044    1045
148	1057, Proband 1058, mother 1059, father	early seizures variant	-	Unknown					Leucocytes in DMSO medium  1057 C   DNA  1057    1058    1059
149	744, proband 745, mother 746, father	classic Rett	-	Unknown					Leucocytes in DMSO medium  744   DNA  744    745    746
150	103, mother 104, father 102, proband	Rett-like	-	Unknown					Leucocytes in DMSO medium  103 B    104 B   Lymphoblastoid Cell Line  102 B   DNA  102    103    104
151	825, proband 826, father 827, mother	classic Rett	-	Unknown					Leucocytes in DMSO medium  825    826    827   DNA  825    826    827
152	127, proband 126, mother	PSV	-	Unknown					DNA  127    126
153	727, proband 726, mother 728, father	classic Rett	29	MECP2	gene deletion				Leucocytes in DMSO medium  727   DNA  727    726    728
154	921, proband	PSV	-	Unknown					Leucocytes in DMSO medium  921   DNA  921
155	96, proband 93, father 95, mother	classic Rett	-	MECP2	gene deletion				Leucocytes in DMSO medium  96   DNA  96    96 B    93    95
157	152, proband 153, mother 154, father	PSV	-	Unknown					DNA  152    153    154
158	49, proband 50, mother	classic Rett	-	Unknown					DNA  49    50
159	91, proband 89, mother 90, father	classic Rett	-	MECP2	gene deletion				DNA  91    89    90
160	267, 269, proband 268, father	PSV	-	Unknown					Lymphoblastoid Cell Line  267    267   DNA  269    267    268
161	808, father 809, mother 810, proband	Rett-like	-	Unknown					Leucocytes in DMSO medium  808    809   DNA  810    808    809
162	270, proband 274, mother 278, father	PSV	-	Unknown					DNA  270    274    278
163	288, proband 289, father 290, mother	PSV	-	Unknown					DNA  288    289    290
164	247, father 248, mother 249, proband	classic Rett	-	Unknown					Leucocytes in DMSO medium  247    248   DNA  249    247    248
165	302, mother 299, proband 301, father	PSV	-	Unknown					DNA  302    299    301
166	300, proband 303, mother 319, father 320, paternal aunt 321, paternal aunt 322, paternal aunt 323, sister 324, brother	PSV	-	Unknown					DNA  300    303    319    320    321    322    323    324
167	129, 128, father 130, mother	PSV	-	Unknown					Leucocytes in DMSO medium  129   DNA  129    128    130
168	458, proband 459, father 460, mother	PSV	-	Unknown					DNA  458    459    460
169	313, proband 314, mother 325, father	PSV	-	Unknown					DNA  313    314    325
170	443, proband 444, father 445, mother	PSV	-	Unknown					DNA  443    444    445
171	471, proband 472, father 473, mother	PSV	-	Unknown					Lymphoblastoid Cell Line  471   DNA  471    472    473
172	230, proband 226, mother 227, father	Rett-like	-	Unknown					DNA  230    226    227
173	150, Proband 151, mother	PSV	-	Unknown					Lymphoblastoid Cell Line  150 b   DNA  150    151
174	406, proband 630, Father 629, mother	classic Rett	-	Unknown					Lymphoblastoid Cell Line  406   DNA  406    630    629
175	562, proband 667, father 668, mother	Rett-like	-	Unknown					DNA  562    667    668
176	489, proband 912, father 913, mother	Rett-like	-	Unknown					DNA  489    912    913
177	723, proband 721, father 722, mother	Rett-like	-	Unknown					Lymphoblastoid Cell Line  723   DNA  723    721    722
178	731, proband 732, mother	congenital	-	Unknown					Lymphoblastoid Cell Line  731    732   DNA  731    732
179	540, proband 541, father 542, mother	Rett-like	-	Unknown					DNA  540    541    542
180	613, proband	classic Rett	-	Unknown					Leucocytes in DMSO medium  613    613b   Lymphoblastoid Cell Line  613    613   DNA  613    613b
181	1009, proband 1010, father 1008, mother	Rett-like	-	Unknown					DNA  1009    1010    1008
182	788, proband 789, mather	Rett-like	-	Unknown					Lymphoblastoid Cell Line  788b   DNA  788    788c    789
183	864, 775, mother 774, father	early seizures variant	-	Unknown					Leucocytes in DMSO medium  864    864    775    774   DNA  864    774    775
184	523, proband 524, mother 525, father	PSV	-	Unknown					DNA  523    524    525
186	682, proband 684, mother 683, father	PSV	-	Unknown					DNA  682    682b    684    683
187	517, proband 756, mother 758, father	PSV	-	Unknown					Lymphoblastoid Cell Line  517   DNA  517    756    758
188	1170, proband 1171, father 1172, mother	classic Rett	32	MECP2	early truncating	502C>T	R168X		Leucocytes in DMSO medium  1170   DNA  1170    1171    1172
189	100, proband 98, mother 99, father	classic Rett	-	MECP2	gene deletion				DNA  100    98    99
190	263, 264, mother 265, father	classic Rett	38	MECP2	gene deletion				Leucocytes in DMSO medium  263   DNA  263    264    265
191	819, proband 820, father 821, mother	classic Rett	39	MECP2	gene deletion				DNA  819    820    821
192	1055, 1053, father 1054, mother	classic Rett	34	MECP2	gene deletion				Leucocytes in DMSO medium  1055   DNA  1055    1053    1054
193	1063, proband 1064, father 1065, mother	classic Rett	15	MECP2	gene deletion				DNA  1063    1064    1065
194	951, 952, father 953, mother	classic Rett	22	MECP2	gene deletion				Leucocytes in DMSO medium  951   DNA  951    952    953
195	1004, proband 1005, father 1006, mother	classic Rett	28	MECP2	gene deletion				DNA  1004    1005    1006
196	1081, proband 1082, mother 1083, father	PSV	13	MECP2	missense	916C>T	R306C		DNA  1081    1082    1083
197	897, Proband 896, 898, father 899, mother	classic Rett	-	MECP2	gene deletion				Lymphoblastoid Cell Line  897 b    896   DNA  897    898    899    896
198	896, Proband 898, father 899, mother 897, affected sister (classic Rett)	high functioning PSV	-	MECP2	gene deletion				Lymphoblastoid Cell Line  896 B   DNA  898    899    897    896
199	139, proband 138, affected sister (classic Rett) 137, mother (carrier) 666, sister	PSV	13	MECP2	late truncating	1157del32	L386fs		Leucocytes in DMSO medium  139    138   Lymphoblastoid Cell Line  139    138    137   DNA  139    138    137    666	Zappella et al, 2001
200	1211, proband 1212, father 1213, mother	classic Rett	29	MECP2	late truncating	1162_1187del26	P388Xfs		Lymphoblastoid Cell Line  1211    1212    1213    1212    1213    1211   DNA  1212    1213    1211
201	1112, proband 1113, father 1114, mother	classic Rett	-	MECP2	early truncating	808C>T	R270X		Lymphoblastoid Cell Line  1112    1113    1114    1112   DNA  1112    1114    1113
202	1180, proband 1181, father 1182, mother	PSV	21	MECP2	late truncating	1163_1179del17	P388Xfs		Leucocytes in DMSO medium  1180   DNA  1180    1181    1182
203	1136, father 1138, proband 1137, mother	Rett-like	-	MECP2	early truncating	502C>T	R168X		Leucocytes in DMSO medium  1136   Lymphoblastoid Cell Line  1136   DNA  1138    1137    1136
204	962, proband 963, father 964, mother	early seizures variant	-	Unknown					Leucocytes in DMSO medium  962   Lymphoblastoid Cell Line  962   DNA  962    963    964
205	965, proband 966, father 967, mother	early seizures variant	-	Unknown					Leucocytes in DMSO medium  965    966    967   Lymphoblastoid Cell Line  965    965 B   DNA  965    966    967
206	968, proband 970, mother 969, father	congenital	32	FOXG1	late truncating	969delC	S323fsX325		Leucocytes in DMSO medium  968   Lymphoblastoid Cell Line  968 b   Fibroblast  968   DNA  968    970    969	Ariani F. et al., Am J Hum Genet, 2008
207	985, proband 988, father 987, mother	PSV	-	MECP2	late truncating	1164_1207del	P388fsX403		Leucocytes in DMSO medium  985   DNA  985    988    987
208	978, proband 979, mother 977, father	classic Rett	-	MECP2	late truncating	1157-1188del32	L386fs		Leucocytes in DMSO medium  978    979    977   DNA  978    979    977
209	86, proband 256, mother 266, father	classic Rett	-	MECP2	early truncating	38_48del			DNA  86    256    266
210	631, proband 632, father 634, mother	classic Rett	32	MECP2	early truncating	763C>T	R255X		Leucocytes in DMSO medium  631   DNA  631    632    634
211	703, father 704, mother	classic Rett	-	MECP2	missense	455C>G	P152R		Lymphoblastoid Cell Line  703   DNA  703    704
212	1047, 1048, father 1049, mother 1050, sister	classic Rett	-	MECP2	early truncating	763C>T	R255X		Leucocytes in DMSO medium  1047   DNA  1047    1048    1049    1050
213	1092, proband	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  1092
214	1167, proband 1168, father 1169, mother	classic Rett	26	MECP2	early truncating	880C>T	R294X		Leucocytes in DMSO medium  1167   DNA  1167    1168    1169
215	1115, proband 1116, father 1117, mother	classic Rett	-	MECP2	early truncating	710delG			DNA  1115    1116    1117
216	1149, proband 1325, mother 1326, father	classic Rett	-	MECP2	early truncating	423C>G	Y141X		DNA  1149    1325    1326
217	1193, proband	classic Rett	18	MECP2	late truncating	1162_1179del18			DNA  1193
218	1217, proband 1218, father 1219, mother	classic Rett	-	MECP2	early truncating	540delA			DNA  1217    1218    1219
219	1226, proband	classic Rett	24	MECP2	missense	455C>G	P152R		DNA  1226
220	1334, proband	PSV	14	MECP2	late truncating	1163del44			Leucocytes in DMSO medium  1334   DNA  1334
221	1263, proband 1264, father 1265, mother	classic Rett	21	MECP2	late truncating	1052_1188del37			Leucocytes in DMSO medium  1263   DNA  1263    1264    1265
222	511, proband 1158, Father 1159, mother	Rett-like	-	Unknown					Lymphoblastoid Cell Line  511   DNA  511    1158    1159
223	1239, proband 1240, Mother 1241, father	classic Rett	-	MECP2	gene deletion				DNA  1239    1240    1241
224	166, proband 170, father 171, mother	classic Rett	36	MECP2	gene deletion				Leucocytes in DMSO medium  166   DNA  166    170    171
225	161, proband 162, father 163, mother	classic Rett	-	MECP2	gene deletion				Leucocytes in DMSO medium  161   DNA  161    162    163
226	1425, proband 1428, Padre 1429, Madre	PSV	8	MECP2	late truncating	1163-1201del38			Leucocytes in DMSO medium  1425   Fibroblast  1425   DNA  1428    1429    1425
227	1322, proband 1323, father 1324, mother	early seizures variant	27	CDKL5	missense	532C>T	R178W		DNA  1322    1323    1324
228	1259, proband 1260, father 1261, madre	classic Rett	-	MECP2	early truncating	576C>T	R168X		Lymphoblastoid Cell Line  1259   DNA  1259    1260    1261
229	1256, proband 1257, Madre 1445, Padre	classic Rett	18	MECP2	early truncating	423C>G	Y141X		Lymphoblastoid Cell Line  1256   DNA  1256    1257    1445
230	1294, Proband 1295, Padre 1296, Madre	classic Rett	-	MECP2	late truncating	C.1157 del 40			DNA  1294    1295    1296
231	1176, Proband 1177, Padre 1179, Sorella	classic Rett	-	MECP2	late truncating	c.1157del41			DNA  1176    1177    1179
232	888, 889,	ND (age less than 4 years)	-	MECP2	early truncating	466G>T	D156Y		Lymphoblastoid Cell Line  888    889   DNA  888    889
233	1299, 1300, Madre 1301, Padre	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  1299    1300    1301
234	1253, Proband 1254, madre 1255, Padre	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  1253    1254    1255
235	1369, Proband 1368, Madre	classic Rett	-	MECP2	early truncating	808C>T	R270X		DNA  1369    1368    1369
236	1400, Proband 1401, Padre 1402, Madre	classic Rett	-	MECP2	late truncating	c.975 del122 ins 78			DNA  1400    1401    1402
237	1409, Proband 1408, Madre 1407, Padre	classic Rett	-	MECP2	gene deletion				DNA  1409    1408    1407
238	399, Proband 398, mother 908, Father	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  399    398    908
239	1384, Proband 1385, Father 1386, Mother	classic Rett	-	MECP2	missense	917G>A	R306H		Leucocytes in DMSO medium  1384   DNA  1385    1386    1384
240	1233, Proband 1234, Father 1235, Mother	early seizures variant	-	Unknown					Leucocytes in DMSO medium  1233    1234   DNA  1233    1234    1235
241	1329, Proband 1330, Father 1331, Mother	Rett-like	-	Unknown					DNA  1329    1330    1331
242	1460, Proband 1461, Father 1462, Mother	classic Rett	-	MECP2	early truncating	880C>T	R294X		Leucocytes in DMSO medium  1460   DNA  1460    1461    1462
243	1506, Proband 1508, Mother 1507, Father	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  1506    1508    1507
244	1516, Mother 1515, Proband 1517, Sib	classic Rett	-	MECP2	early truncating	808C>T	R270T		DNA  1516    1515    1517    1515
245	1524, Proband 1521, Father 1525, Mother	classic Rett	-	MECP2	late truncating				DNA  1524    1521    1525
246	1542, Proband 1544, Mother 1543, Father	ND (age less than 4 years)	-	MECP2	early truncating	808C>T	R270X		DNA  1542    1544    1543
247	1564, Proband 1565, Father 1566, Mother	early seizures variant	26	CDKL5	missense	395T>G	V132G		DNA  1564    1565    1566
248	1615, Proband 1616, Father 1617, Mother	early seizures variant	23	CDKL5	missense	211A>G	N71D		Leucocytes in DMSO medium  1615    1616   DNA  1615    1616    1617
249	1567, Proband 1568, Father 1569, Mother	early seizures variant	25	CDKL5	early truncating	1039C>T	Q347X		Fibroblast  1567   DNA  1567    1568    1569
250	1607, Proband 1608, Father 1609, Mother 1629, Sib	classic Rett	25	MECP2	missense	905C>T	P302L		Leucocytes in DMSO medium  1607   DNA  1607    1608    1609    1629
251	1559, Proband 1560, Father 1561, Mother	early seizures variant	-	CDKL5	missense	863C>T	T288I		Leucocytes in DMSO medium  1559   DNA  1559    1560    1561
252	1929, Probando 1930, Padre 1931, Mother	classic Rett	18	MECP2	missense	316C>T	R106W		DNA  1929    1930    1931
253	1635, Probando 1636, Padre 1637, Madre	classic Rett	6	MECP2	late truncating	1160_1166delCCCCACC	P387fsX406		DNA  1635    1636    1637
254	1578, Proband 1690, Padre 1691, Madre	classic Rett	22	MECP2	early truncating	753delC	G252fsX288		Lymphoblastoid Cell Line  1578   DNA  1578    1690    1691
255	783, Probando 785, Pdre 784, Madre	classic Rett	22	MECP2	missense	397C>T	R133C		DNA  783    785    784
256	1290, probanda 1291, Madre 1292, Padre 1293, Sorella	classic Rett	-	MECP2			K286fsX330		DNA  1290    1291    1292    1293
257	1413, probanda	ND (age less than 4 years)	-	MECP2	missense	1234G>A	V412I		DNA  1413
258	1610, probanda 1625, padre 1626, Madre	ND (age less than 4 years)	-	MECP2	early truncating	763C>T	R255X		DNA  1610    1625    1626
259	1614, probanda 1618, padre 1619,	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  1614    1618    1619
260	1479, Proband 1481, Father 1480, Mother	Rett-like	-	Unknown					DNA  1479    1481    1480
261	1013, Proband 1014, Father 1015, Mother	Rett-like	-	Unknown					Leucocytes in DMSO medium  1013   DNA  1013    1014    1015
262	1187, Proband 1190, Father 1191, Mother	Rett-like	-	Unknown					DNA  1187    1190    1191
263	1627, proband 1628, madre	ND (age less than 4 years)	-	MECP2	missense	C473T	T158M		DNA  1627    1628
264	1908, proband 1909, padre 1910, madre	ND (age less than 4 years)	-	MECP2	missense	C397T	R133C		DNA  1908    1909    1910
265	1, Proband 2, Mother 3, father	congenital	-	FOXG1	early truncating	924G>A	Trp.308X		Lymphoblastoid Cell Line  001   DNA  001    002    003	Philippe et al, J Med Genet 2009
266	4, Proband 5, Mother 6, Father	classic Rett	-	FOXG1	early truncating	1200C>G	Tyr400X		DNA  004    005    006	Philippe et al, J Med Genet 2009
267	1858, proband 1859, mother 1860, father	early seizures variant	-	CDKL5	gene deletion	deletion exon 7 and 8			DNA  1858    1859    1860
268	1923, Proband 1924, Father 1925, Mother	early seizures variant	-	CDKL5	early truncating	509_510delAG	E170fsX193		DNA  1923    1924    1925
269	200, proband 201, Mother 202, father	classic Rett	-	MECP2	gene deletion				DNA  200    201    202    200b    201b
270	1302, proband 1303, father 1304, mother	classic Rett	-	MECP2	gene deletion				DNA  1302    1303    1304
271	1635, proband 1636, father 1637, mother	ND (age less than 4 years)	-	MECP2		1160_1166delCCCCACC	P387fsX406		DNA  1635    1636    1637
272	1584, Proband 1585, father 1586, mother	classic Rett	-	MECP2	gene deletion				Leucocytes in DMSO medium  1584   DNA  1584    1585    1586
273	1905, 1906, father 1907, mother	Rett-like	-	Unknown					DNA  1905    1906    1907
274	1867, proband 1868, mother 1869, father	Rett-like	-	Unknown					DNA  1867    1868    1869
275	1499, proband 1500, Father 1501, mother	Rett-like	-	Unknown					DNA  1499    1499 B    1500    1501
276	164, proband 165, mother	ND (age less than 4 years)	-	Unknown					Leucocytes in DMSO medium  164   DNA  164    164b    165
277	1435, 1436, mother	Rett-like	-	Unknown					DNA  1435    1436
278	1161, Proband 1162, Father	Rett-like	-	Unknown					Lymphoblastoid Cell Line  1161   DNA  1161    1162
279	1539, proband 1541, mother 1540, father	Rett-like	-	Unknown					DNA  1539    1539 B    1541    1540
280	678, Proband 679, Father 680, Mother	ND (age less than 4 years)	-	Unknown					DNA  678    679    680
281	922, proband 923, mother	Rett-like	-	Unknown					Leucocytes in DMSO medium  922   DNA  922    923
282	1160, proband 1509, father 1510, mother	Rett-like	-	Unknown					Lymphoblastoid Cell Line  1160    1160 B   DNA  1160    1509    1510
283	1410, proband 1411, father 1412, mother	Rett-like	-	Unknown					DNA  1410    1411    1412
284	1151, Proband 1152, Father 1153, Mother	Rett-like	-	Unknown					DNA  1151    1152    1153
285	273, proband 272, father 271, mother	ND (age less than 4 years)	-	Unknown					DNA  273    272    271
286	647, proband 648, father 649, mother	Rett-like	-	Unknown					DNA  647    648    649
287	1547, proband 1545, father 1546, mother	Rett-like	-	Unknown					DNA  1547    1545    1546
288	2029, 2030, Father 2031, Mother	ND (age less than 4 years)	-	Unknown					DNA  2029    2030    2031
289	1473, proband 1474, father 1475, mother	ND (age less than 4 years)	-	Unknown					DNA  1473    1474    1475
290	1528, proband 1529, father 1530, mother	Rett-like	-	Unknown					DNA  1528    1528 B    1529    1530
291	1526, proband 1527, father 1854, mother	ND (age less than 4 years)	-	Unknown					DNA  1526    1527    1854
292	1611, Proband 1612, Father 1613, Mother	ND (age less than 4 years)	-	Unknown					DNA  1611    1612    1613
293	2013, Proband 2008, Father 2009, Mother	ND (age less than 4 years)	-	Unknown					DNA  2013    2008    2009
294	1552, Proband 1553, Father 1554, Mother	Rett-like	-	Unknown					DNA  1552    1553    1554
295	1426, proband 1427, father	ND (age less than 4 years)	-	Unknown					DNA  1426    1427
296	1220, 1222, Mother 1221, father	ND (age less than 4 years)	-	Unknown					DNA  1220    1222    1221
297	1456, Proband 1457, Father 1458, Mother	Rett-like	-	Unknown					DNA  1456    1457    1458
298	1465, proband 1466, mother	Rett-like	-	Unknown					DNA  1465    1466
299	1440, Proband 1441, Mother	Rett-like	-	Unknown					DNA  1440    1441
300	84, Proband 81, Mother 82, Father 83, Sister	ND (age less than 4 years)	-	Unknown					DNA  84    81    82    83
301	1266, proband	ND (age less than 4 years)	-	Unknown					Leucocytes in DMSO medium  1266   DNA  1266
302	1371, proband 1372, father 1373, mother	Rett-like	-	Unknown					DNA  1371    1372    1373
303	1276, proband 1278, father 1277, mother	Rett-like	-	Unknown					DNA  1276    1278    1277
304	1315, Proband 1319, Father 1316, Mother	Rett-like	-	Unknown					DNA  1315    1319    1316
305	1366, proband	Rett-like	-	Unknown					DNA  1366
306	1312, Proband 1313, Father 1314, Mother	Rett-like	-	Unknown					Leucocytes in DMSO medium  1312   DNA  1312    1313    1314
307		ND (age less than 4 years)	-
308	2051, proband 2052, mother 2053, father	classic Rett	-	MECP2	missense	C473T	T158M		DNA  2051    2052    2053
309	2101, Proband 2102, Father 2103, Mother	classic Rett	34	MECP2	early truncating	808C>T	R270X		DNA  2101    2102    2103
310	2115, probanda 2116, mother 2122, father	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  2115    2116    2122
311	989, Proband 990, Mother 991, Father	congenital	-	FOXG1	early truncating	136C>T	Q46X		Leucocytes in DMSO medium  989    990    991   DNA  989    989b    989c    989d    989e    990    990b    991    991b    991c
312	2085, Proband 2086, Father 2087, Mother	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  2085    2086    2087
313	2158, proband 2159, Mother	PSV	-	MECP2	missense	397C>T	R133C		DNA  2158    2159
314	2223, Proband 2224, Father 2225, Mother	ND (age less than 4 years)	-	MECP2	missense	455C>G	P152R		DNA  2223    2224    2225
315	2227, Proband 2334, Father 2335, Mother	classic Rett	-	MECP2	late truncating	1151_1352del202	P384fs		DNA  2227    2334    2335
316	2235, Proband 2236, Mother	classic Rett	-	MECP2	early truncating	880C>T	R294X		DNA  2235    2236
317	1861, Proband 1862, Father 1863, Mother	classic Rett	-	MECP2		IVS3-3 C>G			DNA  1861    1862    1863	Fukuda et al,, 2005
318	2061, Proband 2190, Father 2191, Mother	early seizures variant	-	CDKL5	missense	551T>A	L184H		DNA  2061    2190    2191
319	2076, Proband 2077, Father 2078, Mother	early seizures variant	-	CDKL5		1648C>T	R550X		Leucocytes in DMSO medium  2076    2077    2078   DNA  2076    2077    2078
320	97, Proband 94, Father 92, Mother	classic Rett	-	MECP2		delezione esone 1			DNA  97    94    92
321	1387, Proband 1388, Father 1389, Mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  1387    1388    1389
322	1258, Proband 1317, 1318, Mother	ND (age less than 4 years)	-	MECP2	missense	401C>G	S134P		Lymphoblastoid Cell Line  1258   DNA  1258    1317    1318
323	395, Proband 396, Father 397, Mother	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  395    396    397
324	390, Proband 388, Father 389, Mother	classic Rett	-	MECP2	missense	468C>G	D156E		DNA  390    388    389
325	2165, Proband	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  2165
326	2204, Proband 2206, Father 2207, Mother	classic Rett	-	MECP2	missense	473C>T	T158M		Fibroblast  2204   DNA  2204    2206    2207
327	2193, Proband 2194, Father 2195, Mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  2193    2194    2195
328	2136, proband 2137, Father 2138, Mother	classic Rett	-	MECP2	early truncating	611C>G	S204X		DNA  2136    2137    2138
329	1393, Proband 1815, Father 1816, Mother	classic Rett	-	MECP2	early truncating	808C>T	R270X		Lymphoblastoid Cell Line  1393   Fibroblast  1393   DNA  1393    1393b    1815    1816
330	387, Proband 2297, father 2298, Mother	ND (age less than 4 years)	-	MECP2	early truncating	763C>T	R255X		DNA  387    2297    2298
331	1599, Mother 1598, Proband 1600, Grandfather 1601, Grandmother	classic Rett	-	MECP2		1163del44			Leucocytes in DMSO medium  1599   DNA  1598    1599    1600    1601
332	1575, Proband 1576, Father 1577, Mother	classic Rett	-	MECP2	early truncating	808C>T	R270X		DNA  1575    1576    1577
333	1555, Proband 1556, Father 1557, Mother	ND (age less than 4 years)	-	MECP2	early truncating	13delGCCCGC	R5fsX39		DNA  1555    1556    1557
334	1463, Proband 1464, Mother	classic Rett	-	MECP2		delG332-333			DNA  1463    1464
335	205, Proband 206, Mother 210, Father	ND (age less than 4 years)	-	MECP2		delezione esone 3			DNA  205    206    210
336	2271, proband 2272, Father 2273, Mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  2271    2272    2273
337	2240, Proband 2241, father 2242, Mother	classic Rett	-	MECP2	missense	472A>C	T158P		DNA  2240    2241    2242
338	2214, Proband 2215, Father 2216, Mother	classic Rett	-	MECP2		1164_1189del			Leucocytes in DMSO medium  2214   DNA  2214    2215    2216
339	2038, Mother	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  2038
340	1596, Proband 1597, Mother	ND (age less than 4 years)	-	MECP2	gene duplication				DNA  1596    1597
341	2262, proband 2263, Father 2264, Mother	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  2262    2263    2264
342	2243, Proband 2244, Father 2245, Mother	classic Rett	-	MECP2		1124_1176del			DNA  2243    2244    2245
343	2285, Proband	ND (age less than 4 years)	-	MECP2	gene deletion				DNA  2285
344	2261, Proband	ND (age less than 4 years)	-	MECP2		delezione parziale ex 4			DNA  2261
345	2166, Proband 2172, Mother 2173, Father	classic Rett	-	MECP2	early truncating	473C>T	R270X		DNA  2166    2166 b    2172    2173    2166    2166 b    2172    2173
346	2093, Proband 2094, Father 2095, Mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  2093    2094    2095
347	2238, proband	classic Rett	-	MECP2	early truncating	763C>T	p.R255X		Fibroblast  2238   DNA  2238
348	2312, Proband	classic Rett	-	MECP2	early truncating	C502T	R168X		Fibroblast  2312   DNA  2312
349	2299, Proband 2300, Father 2301, Mother	classic Rett	-	MECP2		exon 4 partially deleted			Lymphoblastoid Cell Line  2299   DNA  2299    2300    2301
351	2082, Proband 2083, Mmother 2084, Father	ND (age less than 4 years)	-	Unknown					Lymphoblastoid Cell Line  2082   DNA  2082    2083    2084
352	2302, Proband	classic Rett	-	MECP2	missense	473C>T	T158M		Fibroblast  2302
353	2268, Proband 2269, Father 2270, Mother	classic Rett	-	MECP2		del ex3, partially ex 4			DNA  2268    2269    2270
354	2282, Proband 2281, Father	classic Rett	-	MECP2		del ex 3-4			DNA  2282    2281    2281
355	2258, Proband 2259, Mother 2260, Father	classic Rett	-	MECP2		864_1272del	K289_L424del		DNA  2258    2259    2260    2258 b
356	2277, Proband 2278, Mother 2279, Father	classic Rett	-	MECP2	missense	401C>G	S134C		DNA  2277    2278    2279
357	2331, Proband	ND (age less than 4 years)	-	MECP2	early truncating	108_111del	E37Xfs		DNA  2331
358	2349, Proband 2350, Father 2351, Mother	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  2349    2350    2351
359	2366, Proband 2365, Mother 2364, Father	classic Rett	-	MECP2	early truncating	808C>T	R270X		DNA  2366    2365    2364
360	2332, Proband 2333, Mother	classic Rett	-	MECP2	missense	473C>T	T158M		DNA  2332    2333
361	2362, proband	congenital	-	FOXG1	gene deletion				Fibroblast  2362
362	2249, Proband 2250, Mother 2251, Father	classic Rett	-	MECP2	missense	468C>G	D156E		Fibroblast  2249    2250   DNA  2249    2250    2251    2251 II    2250 II
363	2378, Proband 2379, Mother	PSV	-	MECP2	missense	397C>T	R133C		DNA  2378    2379
364	2345, Proband 2346, Father 2347, Mother	early seizures variant	-	CDKL5	missense	446T>C	L149P		DNA  2345    2346    2347
365	2388, Proband 2389, Mother	classic Rett	-	MECP2	missense	401C>T	S134F		DNA  2388    2389
366	2396, Proband 2397, Father 2398, Mother 7425, Proband	classic Rett	-	MECP2	missense	916C>T	R306C		DNA  2396    2397    2398    7425/21   buffy coat nuovo  2397    2397   buffy coat  2397    2397   blood sample  2396
367	1638, Proband 1633, Father 1634, Mother 1653, Step brother	early seizures variant	-	CDKL5	late truncating	1090G>T	E364X		DNA  1638    1633    1634    1653   blood sample  1633
368	1535, Proband 1536, Proband 1537, Mother	early seizures variant	-	CDKL5	missense	225T>A	I72N		Leucocytes in DMSO medium  1535   Lymphoblastoid Cell Line  1535   DNA  1535    1536    1537   blood sample  1536
369	1091, Proband 2155, Mother 2156, Father	congenital	-	FOXG1	missense	681C>G	N227K		DNA  1091    2155    2156
370	2444, Proband	classic Rett	-	MECP2	missense	455C>G	P152R		Fibroblast  2444   DNA  2444
371	2434, Proband 2435, Father 2436, Mother	classic Rett	-	MECP2	early truncating	502C>T	R168X		DNA  2434    2435    2436
372	2393, Proband 2394, Father 2395, Mother	ND (age less than 4 years)	-	MECP2	late truncating	1155_1198del44	Q386Xfs		DNA  2393    2394    2395
373	2428, Proband 2470, Mother	ND (age less than 4 years)	-	MECP2	early truncating	806delG	G269Xfs		DNA  2428    2470
374	2403, Father 2404, Mother 2402, Proband	classic Rett	-	MECP2	late truncating				Plasma  2403    2404   DNA  2402    2403    2404
375	2455, Proband 2452, Father 2453, Mother	early seizures variant	-	CDKL5	late truncating	868C>T	Q290X		DNA  2455    2452    2453
376	852, Proband	Rett-like	-	FOXG1	gene deletion				DNA  852
377	2445, Proband	early seizures variant	-	CDKL5	late truncating	964dupA	T322NfsX4		Fibroblast  2445   DNA  2445
378	2205, Proband	classic Rett	-	MECP2	late truncating	1326_1327insC	A443Xfs		Fibroblast  2205   DNA  2205
379	2234, Proband	classic Rett	-	MECP2	missense	916C>T	R306C		Fibroblast  2234
380	2239, Proband	classic Rett	-	MECP2	missense	473C>T	T158M		Fibroblast  2239   DNA  2239
381	2123, Proband	classic Rett	-	MECP2	early truncating	763C>T	R255X		DNA  2123
382	2477, Proband 2478, Father 2479, Mother	classic Rett	-	MECP2	missense	468C>G	D156E		DNA  2477    2478    2479
383	2348, Proband	congenital	-	FOXG1	early truncating		del parziale ex 1		DNA  2348
384	302, Proband	early seizures variant	-	CDKL5	early truncating	554+5G>A	G155Afs42X		DNA  302/2013
385		congenital	-	FOXG1	gene deletion
386		congenital	-	Unknown
387	934, Proband	congenital	-	FOXG1	gene deletion				DNA  934/2013
388		congenital	-	FOXG1	early truncating	460dupG	Glu154Glyfs*301
389		congenital	-	FOXG1	late truncating	738C>A	Y246X
390		congenital	-	Unknown	late truncating	738C>A	Y246X
391		classic Rett	-	MECP2	missense	397C>T	R133C
392	1136, proband 1138, mother 1137, father	classic Rett	-	MECP2	early truncating	1156_1196del41	L386Hfs*5		DNA  1136/2013    1138/2013    1137/2013
393	766, Proband 1488, Father 1489, Mother	ND (age less than 4 years)	-	CDKL5	missense	3004 G>A	Val456Ile		DNA  766/2013    1488/2013    1489/2013
394	166, father 167, mother	classic Rett	-	CDKL5	early truncating	2322-2323delAG	K776Afs*24		DNA  166/2014ret    167/2014ret
395		ND (age less than 4 years)	-
396	789, proband	ND (age less than 4 years)	-	FOXG1	missense	610C>G	L204V		DNA  789/14ret
397	566, proband	ND (age less than 4 years)	-	MECP2	gene deletion	esone 3 e parziale esone 4			DNA  566/2013
398	782, proband	classic Rett	-	MECP2	early truncating	1116_1201del86	H372Qfs*		DNA  782/14ret
399	1130, probando 1131, parent 1132, parent	classic Rett	-	MECP2	early truncating	763C>T	Arg255*		DNA  1130/14ret    1131/14    1132/14
400	1260, mother 1261, proband	ND (age less than 4 years)	-	CDKL5		744+1G>C			DNA  1260/14ret    1261/14ret
401	284, proband	congenital	-	FOXG1	gene deletion				DNA  284/14ret
402	378, proband 379, father 380, Mother	congenital	-	FOXG1	gene deletion				DNA  378/15ret    379/15ret    380/15ret
403	355, proband 356, mother	classic Rett	-	MECP2	early truncating	1164_1207del44	Pro389*		DNA  355/15    356/15
404	1094, 1095,	PSV	-	MECP2	early truncating	880C>T	Arg294*		Plasma  1094/15   DNA  1095/15
405	1037, proband	classic Rett	-	MECP2	early truncating	1164_1207del	Pro389*		DNA  1037/2015
406	452, proband	ND (age less than 4 years)	-	FOXG1	early truncating	460dup	Glu154fs*301		DNA  452/2013
407	2454, proband 1275, father 1276, mother	classic Rett	-	MECP2	early truncating	763C>T	Arg255*		DNA  2454    1275/15ret    1276/15ret
408	632, proband	ND (age less than 4 years)	-	MECP2	missense	880C>T	Arg294*		DNA  632/17
409	2237, proband	congenital	-	FOXG1	missense	688C>T	Arg230Cys		Fibroblast  2237/17
410	3328,	ND (age less than 4 years)	-	Unknown	early truncating	808C>T	R270X		blood sample  3328/16
411	2717, proband	ND (age less than 4 years)	-	FOXG1	early truncating	256dup	Gln86Profs*35		DNA  2717/17
412	2719, proband	ND (age less than 4 years)	-	Unknown	early truncating	974_975insA	Ser326Glufs*129		DNA  2719/17
413	564, proband	ND (age less than 4 years)	-	Unknown	gene deletion				DNA  564/16
414	1156, proband	ND (age less than 4 years)	-	Unknown	gene duplication				DNA  1156/15
415	4027, proband	ND (age less than 4 years)	-	Unknown	missense	681C>G	Asn227Lys		DNA  4027/16
416	1832,	classic Rett	-	CDKL5	missense	397c>t	His133Tyr)		DNA  1832/17
417	-2696, proband	ND (age less than 4 years)	-	FOXG1	missense	708C>A	Asn236Lys		DNA  2696-17
418	1661, proband	forme fruste	-	MECP2	late truncating	1163del44	Pro389*		DNA  1661/17
419	1661,	ND (age less than 4 years)	-	MECP2		1164_1207del	Pro389*		DNA
420	1661,	Rett-like	-	MECP2	missense	916C>T	Arg306Cys		DNA
421		ND (age less than 4 years)	-	MECP2	late truncating	1164_1207del	Pro389*
422	1478, Proband	Rett-like	-	Unknown	early truncating	4110_4111 del	Tyr1371Glnfs*15		DNA  1478/2013
423	1325, Proband	Rett-like	-	MECP2	missense	901C>G	Leu301Val		DNA  1325/2013
424	1325, Proband	Rett-like	-	Unknown	early truncating	4039dupG	Ala1347Glyfs*40		DNA
425	1325, Proband	Rett-like	-	Unknown	early truncating	3613_3613delC	(leu1205trpfs*192)		DNA
426	2442, Proband	congenital	-	FOXG1	missense	610C>G	(Leu204Val)		DNA  2442/18
427	2442,	congenital	-	FOXG1	gene deletion				DNA
428		ND (age less than 4 years)	-	FOXG1	early truncating	1414_1417del	Ser472Ilefs*15
429	3827, proband	ND (age less than 4 years)	-	MECP2	missense	433C>T	Arg145Cys		DNA  3827/20
430	5675, proband	Rett-like	-	MECP2	missense	397C>T	Arg133Cys		DNA  5675/21
431	1091, Proband 1092, Mother 1093, Mother	high functioning PSV	-	MECP2	missense	925C>T	Arg309Trp		DNA  1091/21    1092/21    1093/21
432		Rett-like	-	MECP2	missense	341G>A	Gly114Asp
433	6109, Proband 6108, Proband 6135, Proband	classic Rett	-	MECP2	missense	473C>T	T158M		Lymphoblastoid Cell Line  6109/21   DNA  6108/21   skin biopsy  6135/21
434		PSV	-	Unknown	missense	1030C>T	Arg344Trp
435		ND (age less than 4 years)	-	FOXG1	early truncating	208C>T	Gln70*