 |
|
 |
| |
|
|
|
|
|
|
|
|
| |
TOXIC OIL SYNDROME |
Toxic Oil Syndrome |
|
3717 |
3717 |
mposada@isciii.es |
2008-05-30 |
|
| |
177900
PSORIASIS |
|
202 |
2071 |
816 |
saker@genethon.fr |
2008-06-26 |
|
| |
254200
MYASTHENIA GRAVIS |
|
638 |
1430 |
637 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DMD/BMD CARRIERS |
G71.0
Muscular dystrophy (Carrier of MD Duchenne/Becker) |
623 |
1397 |
379 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
192600
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC |
|
266 |
1340 |
62 |
saker@genethon.fr |
2008-06-26 |
|
| |
253800
CONGENITAL MUSCULAR DYSTROPHY |
|
429 |
1292 |
461 |
saker@genethon.fr |
2008-06-26 |
|
| |
607259
SPASTIC PARAPLEGIA AD/ AR |
|
227 |
1274 |
517 |
saker@genethon.fr |
2008-06-26 |
|
| |
242300
ICHTHYOSIS LAMELLAR 1, COLLODION BABY |
|
218 |
1113 |
313 |
saker@genethon.fr |
2008-06-26 |
|
| |
CONTROLS |
|
1000 |
1000 |
1000 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
121210
FEBRILE CONVULSIONS FAMILIAL |
|
109 |
797 |
390 |
saker@genethon.fr |
2008-06-26 |
|
| |
253300
SPINAL MUSCULAR ATROPHY (DEFINED) |
G12.0 G12.1 G12.1
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] Other inherited spinal muscular atrophy Other inherited spinal muscular atrophy G 12.1 Spinal muscular atrophy and related syndromes |
244 |
797 |
264 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
MILD NON SPECIFIC MYOPATHIC SIGNS |
|
|
777 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY |
|
258 |
709 |
358 |
saker@genethon.fr |
2008-06-26 |
|
| |
166710
OSTEOPOROSIS |
|
504 |
689 |
178 |
saker@genethon.fr |
2008-06-26 |
|
| |
115200
CARDIOMYOPATHY DILATED |
|
185 |
671 |
277 |
saker@genethon.fr |
2008-06-26 |
|
| |
249100
FAMILIAL MEDITERRANEAN FEVER |
|
149 |
607 |
233 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
G71.0
Muscular dystrophy (Duchenne type with known mutation) |
491 |
561 |
561 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
253300
SPINAL MUSCULAR ATROPHY 1 |
|
219 |
544 |
269 |
saker@genethon.fr |
2008-06-26 |
|
| |
CONTROL |
Control |
|
525 |
|
mposada@isciii.es |
2008-05-30 |
|
| |
117000
CENTRAL CORE DISEASE OF MUSCLE |
|
113 |
523 |
197 |
saker@genethon.fr |
2008-06-26 |
|
| |
606904
JUVENILE MYOCLONIC EPILEPSY |
|
92 |
513 |
200 |
saker@genethon.fr |
2008-06-26 |
|
| |
253300
SPINAL MUSCULAR ATROPHY (UNDEFINED) |
G12.0 G12.1 G12.1
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] Other inherited spinal muscular atrophy Other inherited spinal muscular atrophy G 12.1 Spinal muscular atrophy and related syndromes |
291 |
461 |
291 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
CONTROL |
|
|
450 |
450 |
luisa.politano@unina2.it |
2008-07-07 |
|
| |
601462
CONGENITAL MYASTHENIC SYNDROME |
|
171 |
443 |
221 |
saker@genethon.fr |
2008-06-26 |
|
| |
CONTROL SAMPLES |
|
|
440 |
|
luisa.politano@unina2.it |
2008-06-30 |
|
| |
181500
SCHIZOPHRENIA |
|
107 |
437 |
184 |
saker@genethon.fr |
2008-06-26 |
|
| |
312750
RETT SYNDROME |
|
112 |
435 |
108 |
saker@genethon.fr |
2008-06-26 |
|
| |
222100
DIABETES MELLITUS INSULIN-DEPENDENT |
|
72 |
431 |
205 |
saker@genethon.fr |
2008-06-26 |
|
| |
145900
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
|
145 |
430 |
197 |
saker@genethon.fr |
2008-06-26 |
|
| |
602025
OBESITY |
|
227 |
429 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
105650
DIAMOND-BLACKFAN ANEMIA |
|
99 |
373 |
110 |
saker@genethon.fr |
2008-06-26 |
|
| |
253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 2A |
|
63 |
370 |
119 |
saker@genethon.fr |
2008-06-26 |
|
| |
607208
SEVERE MYOCLONIC EPILEPSY OF INFANCY |
|
109 |
360 |
124 |
saker@genethon.fr |
2008-06-26 |
|
| |
161800
NEMALINE MYOPATHY |
|
112 |
341 |
133 |
saker@genethon.fr |
2008-06-26 |
|
| |
160300
MYOPATHY DISTAL |
|
161 |
322 |
185 |
saker@genethon.fr |
2008-06-26 |
|
| |
CONTROLS |
|
320 |
320 |
320 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
607631
EPILEPSY JUVENILE ABSENCE |
|
62 |
311 |
140 |
saker@genethon.fr |
2008-06-26 |
|
| |
255320
MULTIMINICORE DISEASE |
|
96 |
311 |
106 |
saker@genethon.fr |
2008-06-26 |
|
| |
248300
MAL DE MELEDA |
|
48 |
304 |
93 |
saker@genethon.fr |
2008-06-26 |
|
| |
164300
OCULOPHARYNGEAL MUSCULAR DYSTROPHY |
|
143 |
301 |
191 |
saker@genethon.fr |
2008-06-26 |
|
| |
181350
EMERY-DREIFUS MUSCULAR DYSTROPHY |
|
99 |
276 |
132 |
saker@genethon.fr |
2008-06-26 |
|
| |
309550
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1 (UNDEFINED) |
Q99.2
Fragile X chromosome |
180 |
263 |
169 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
227650
FANCONI ANEMIA |
|
60 |
262 |
66 |
saker@genethon.fr |
2008-06-26 |
|
| |
226600
EPIDERMOLYSIS BULLOSA DYSTROPHICA HALLOREAU-SIEMENS TYPE |
|
65 |
256 |
79 |
saker@genethon.fr |
2008-06-26 |
|
| |
125853
DIABETES MELLITUS NONINSULIN-DEPENDENT |
|
127 |
248 |
14 |
saker@genethon.fr |
2008-06-26 |
|
| |
104200
ALPORT SYNDROME |
|
176 |
245 |
209 |
saker@genethon.fr |
2008-06-26 |
|
| |
126200
MULTIPLE SCLEROSIS |
|
38 |
236 |
88 |
saker@genethon.fr |
2008-06-26 |
|
| |
120970
CONE-ROD DYSTROPHY 2 |
|
46 |
227 |
84 |
saker@genethon.fr |
2008-06-26 |
|
| |
226400
EPIDERMODYSPLASIA VERRUCIFORMIS |
|
32 |
226 |
40 |
saker@genethon.fr |
2008-06-26 |
|
| |
255200
CENTRONUCLEAR MYOPATHY |
|
63 |
226 |
95 |
saker@genethon.fr |
2008-06-26 |
|
| |
300376
BECKER DYSTROPHY, BMD |
|
|
220 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
191100
TUBEROUS SCLEROSIS |
|
63 |
212 |
78 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DUCHENNE DYSTROPHY, DMD |
|
|
208 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER MITOCHONDRIAL DISORDERS |
|
|
208 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
160900
MYOTONIC DYSTROPHY, STEINERT, DM1 |
G71.1
Myotonic disorders |
70 |
204 |
140 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
168600
PARKINSON DISEASE; PD |
|
200 |
200 |
200 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
253600
CALPAINOPATHY;LGMD2A |
G71.0
|
|
199 |
199 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
125480
MANIC-DEPRESSIVE PSYCHOSIS |
|
49 |
199 |
81 |
saker@genethon.fr |
2008-06-26 |
|
| |
118220
CHARCOT-MARIE-TOOTH DISEASE (UNDEFINED) |
G60.0
Hereditary motor and sensory neuropathy |
115 |
197 |
117 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
131760
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE |
|
21 |
194 |
40 |
saker@genethon.fr |
2008-06-26 |
|
| |
MALIGNANT HYPERTHERMIA |
|
|
192 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
S. OF DOWN |
|
|
186 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310100
MUSCULAR DYSTROPHY, BECKER TYPE; BMD |
G71.0
Muscular dystrophy (Becker type with known mutation) |
146 |
174 |
174 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
175100
ADENOMATOUS POLYPOSIS OF THE COLON |
|
150 |
172 |
137 |
saker@genethon.fr |
2008-06-26 |
|
| |
608931
CMS - MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED (DEFINED) |
G70.2
Congenital and developmental myasthenia |
47 |
169 |
69 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
600669
EPILEPSY IDIOPATHIC GENERALIZED |
|
35 |
168 |
76 |
saker@genethon.fr |
2008-06-26 |
|
| |
121200
EPILEPSY BENIGN NEONATAL |
|
24 |
167 |
78 |
saker@genethon.fr |
2008-06-26 |
|
| |
253700
MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 2C |
|
47 |
164 |
86 |
saker@genethon.fr |
2008-06-26 |
|
| |
158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A |
G71.0
Muscular dystrophy |
109 |
163 |
163 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
535000
LHON-LEBER OPTIC ATROPHY (UNDEFINED) |
H47.2
Optic atrophy |
120 |
161 |
132 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
193300
VON HIPPEL-LINDAU SYNDROME |
|
50 |
159 |
27 |
saker@genethon.fr |
2008-06-26 |
|
| |
RESPIRATORY CHAIN DEFECTS |
G71.3
Mitochondrial myopathy, not elsewhere classified |
140 |
158 |
158 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
601764
CONVULSIONS BENIGN FAMILIAL INFANTILE |
|
21 |
158 |
70 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DUCHENNE/BECKER MUSCULAR DYSTROPHY (DEFINED) |
G71.1
Muscular dystrophy |
105 |
156 |
111 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
300376
BECKER DYSTROPHY, BMD |
G71.0
Muscular dystrophy |
152 |
155 |
155 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
160900
DYSTROPHIA MYOTONICA |
|
91 |
153 |
109 |
saker@genethon.fr |
2008-06-26 |
|
| |
229300
FRIEDREICH ATAXIA 1 |
|
41 |
147 |
49 |
saker@genethon.fr |
2008-06-26 |
|
| |
226650
EPIDERMOLYSIS BULLOSA GENERALIZED ATROPHIC BENIGN |
|
20 |
144 |
12 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DUCHENNE DYSTROPHY, DMD |
G71.0
Muscular dystrophy |
141 |
142 |
142 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
225750
AICARDI-GOUTIERES SYNDROME |
|
35 |
140 |
49 |
saker@genethon.fr |
2008-06-26 |
|
| |
540000
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS, MERRF, LEIGH, COX (UNDEFINED) |
G71.3
Mitochondrial myopathy, not elsewhere classified |
108 |
139 |
117 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
601419
MYOPATHY DESMIN RELATED |
|
32 |
136 |
52 |
saker@genethon.fr |
2008-06-26 |
|
| |
160900
DYSTROPHIA MYOTONICA 1 |
G71.1
Myotonic disorders (DM1) |
73 |
133 |
123 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
154275
SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 2 |
|
36 |
133 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
145600
SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 1 |
|
57 |
132 |
113 |
saker@genethon.fr |
2008-06-26 |
|
| |
MTDNA MULTIPLE DELETIONS |
|
|
130 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
604004
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS |
|
27 |
125 |
29 |
saker@genethon.fr |
2008-06-26 |
|
| |
254090
ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
|
45 |
125 |
49 |
saker@genethon.fr |
2008-06-26 |
|
| |
232600
GLYCOGEN STORAGE DISEASE V |
|
103 |
122 |
104 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DUCHENNE/BECKER MUSCULAR DYSTROPHY(UNDEFINED) |
G71.1
Muscular dystrophy |
67 |
122 |
54 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
253400
SPINAL MUSCULAR ATROPHY, TYPE II-III; SMA2-3 |
G12.1
Other inherited spinal muscular atrophy (type II- III [Kugelberg-Welander]) |
50 |
120 |
47 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
158900
FACIO-SCAPULO-HUMERAL, FSHD1 |
G71.0
Muscular dystrophy |
50 |
118 |
100 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
147421
INCLUSION BODY MYOSITIS |
|
56 |
112 |
64 |
saker@genethon.fr |
2008-06-26 |
|
| |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A (UNDEFINED) |
G71.0
Muscular dystrophy |
53 |
110 |
43 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
MYASTHENIA GRAVIS |
G70.0
Myasthenia gravis |
110 |
110 |
110 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
123700
CUTIS-LAXA |
|
28 |
107 |
41 |
saker@genethon.fr |
2008-06-26 |
|
| |
PEO/KSS |
G71.3
Mitochondrial myopathy, not elsewhere classified |
90 |
107 |
107 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
300121
DOUBLECORTIN |
|
23 |
106 |
23 |
saker@genethon.fr |
2008-06-26 |
|
| |
310400
MYOTUBULAR MYOPATHY |
|
27 |
105 |
25 |
saker@genethon.fr |
2008-06-26 |
|
| |
160800
MYOTONIA CONGENITA- THOMSEN DISEASE |
|
67 |
103 |
76 |
saker@genethon.fr |
2008-06-26 |
|
| |
253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A |
G71.0
Muscular dystrophy (LGMD 2A) |
93 |
102 |
100 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
604856
LANGERHANS CELL HISTIOCYTOSIS |
|
98 |
102 |
98 |
saker@genethon.fr |
2008-06-26 |
|
| |
262500
LARON SYNDROME |
|
30 |
93 |
41 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
MUSCULAR DYSTROPHY DUCHENNE TYPE |
|
56 |
86 |
58 |
saker@genethon.fr |
2008-06-26 |
|
| |
253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3 |
G12
Spinal muscular atrophy and related syndromes |
84 |
84 |
84 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
118220
CHARCOT-MARIE-TOOTH DISEASE, CMT1A (DEFINED) |
G60.0
Hereditary motor and sensory neuropathy |
35 |
83 |
63 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
ALS/MOTOR NEURON DISEASE |
|
|
81 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
118210
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2A |
|
34 |
81 |
40 |
saker@genethon.fr |
2008-06-26 |
|
| |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A (DEFINED) |
G71.0
Muscular dystrophy |
53 |
80 |
80 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
242100
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA |
|
25 |
80 |
32 |
saker@genethon.fr |
2008-06-26 |
|
| |
304020
CONE-ROD DYSTROPHY, X-LINKED |
|
21 |
77 |
30 |
saker@genethon.fr |
2008-06-26 |
|
| |
608931
CMS - MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED (UNDEFINED) |
G70.2
Congenital and developmental myasthenia |
37 |
76 |
39 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
310200
DUCHENNE DYSTROPHY;DMD |
G71.0
|
|
76 |
76 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
160900
MYOTONIC DYSTROPHY;DM1 |
G71.1
|
|
75 |
75 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
ALS/ MOTOR NEURON DISEASE |
G12.2
Motor neuron disease |
72 |
72 |
72 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
254800
EPILEPSY PROGRESSIVE MYOCLONIC |
|
23 |
71 |
36 |
saker@genethon.fr |
2008-06-26 |
|
| |
158810
MYOPATHY BENIGN CONGENITAL WITH CONTRACTURES |
|
28 |
70 |
38 |
saker@genethon.fr |
2008-06-26 |
|
| |
141900
HEMOGLOBIN--BETA LOCUS; HBB |
|
22 |
70 |
28 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
POLYMYOSITIS |
M33.2
Polymyositis |
69 |
69 |
69 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
608099
ALPHA-SARCOGLYCANOPATHY; LGMD2D |
G71.0
|
|
68 |
68 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
129500
ECTODERMAL DYSPLASIA HIDROTIC |
|
7 |
66 |
28 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DMD/BMD CARRIER |
G71.0
Muscular dystrophy |
62 |
65 |
65 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
126200
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS |
|
65 |
65 |
65 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
278730
XERODERMA PIGMENTOSUM |
|
15 |
65 |
23 |
saker@genethon.fr |
2008-06-26 |
|
| |
600513
EPILEPSY NOCTURNAL FRONTAL LOBE |
|
11 |
64 |
28 |
saker@genethon.fr |
2008-06-26 |
|
| |
309550
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1 (DEFINED) |
Q99.2
Fragile X chromosome |
35 |
64 |
38 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
158900
FACIO-SCAPULO-HUMERAL;FSHD1A |
G71.0
|
|
63 |
63 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
602668
PROXIMAL MYOTONIC MYOPATHY |
|
47 |
63 |
48 |
saker@genethon.fr |
2008-06-26 |
|
| |
607801
LGMD1C, CAVEOLINOPATHY |
|
|
60 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253600
LGMD (UNDEFINED) |
G71.0
Muscular dystrophy |
33 |
60 |
34 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
182980
SPINAL MUSCULAR ATROPHY PROXIMAL |
|
56 |
60 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
164400
SPINOCEREBELLAR ATAXIA |
|
14 |
59 |
19 |
saker@genethon.fr |
2008-06-26 |
|
| |
THOMSEN/BECKER DISEASE CLCN1 CHANNEL |
G71.1
Myotonic disorders |
50 |
58 |
58 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
253601
DISFERLINOPATHY;LGMD2B |
G71.0
|
|
58 |
58 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
254780
MYOCLONIC EPILEPSY OF LAFORA |
|
15 |
58 |
16 |
saker@genethon.fr |
2008-06-26 |
|
| |
253601
LGMD2B, DYSFERLINOPATHY |
|
|
58 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
245000
PAPILLON-LEFEVRE SYNDROME |
|
14 |
58 |
24 |
saker@genethon.fr |
2008-06-26 |
|
| |
232300
GLYCOGENOSIS TYPE II |
|
|
57 |
57 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
243180
INTESTINAL PSEUDOOBSTRUCTION DISEASE |
|
18 |
56 |
19 |
saker@genethon.fr |
2008-06-26 |
|
| |
602771
RIGID SPINE MUSCULAR DYSTROPHY |
|
22 |
55 |
22 |
saker@genethon.fr |
2008-06-26 |
|
| |
535000
LHON-LEBER OPTIC ATROPHY (DEFINED) |
H47.2
Optic atrophy |
22 |
55 |
36 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
OTHER LGMD |
|
|
54 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
118200
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1B |
|
18 |
54 |
26 |
saker@genethon.fr |
2008-06-26 |
|
| |
535000
LEBER OPTIC ATROPHY |
|
14 |
54 |
21 |
saker@genethon.fr |
2008-06-26 |
|
| |
253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3 |
|
|
52 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607155
LIMB-GIRDLE DYSTROPHY 2I;LGMD2I |
G71.0
|
|
51 |
51 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
253600
LGMD2A LGMD2C (DEFINED) |
G71.0
Muscular dystrophy |
20 |
51 |
34 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
308100
ICHTHYOSIS X-LINKED |
|
12 |
50 |
20 |
saker@genethon.fr |
2008-06-26 |
|
| |
130650
BECKWITH-WIEDEMANN SYNDROME |
|
42 |
49 |
45 |
saker@genethon.fr |
2008-06-26 |
|
| |
HEREDITARY SPASTIC PARAPLEGIA |
G 11.4
Hereditary spastic paraplegia |
10 |
49 |
38 |
mposada@isciii.es |
2008-05-30 |
|
| |
208230
ARTHROPATHY PROGRESSIVE PSEUDORHUMATOID OF CHILDHOOD |
|
9 |
48 |
18 |
saker@genethon.fr |
2008-06-26 |
|
| |
607208
SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI (DEFINED) |
G40.3
Generalized idiopathic epilepsy and epileptic syndromes |
17 |
48 |
17 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
131750
EPIDERMOLYSIS BULLOSA DYSTROPHICA PASINI TYPE |
|
11 |
47 |
18 |
saker@genethon.fr |
2008-06-26 |
|
| |
253600
LGMD2A, CALPAINOPATHY |
|
|
46 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
DERMATOMYOSITIS |
M33
Dermatopolymyositis |
46 |
46 |
46 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
540000
MELAS |
G71.3
|
|
45 |
45 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
232400
GLYCOGENOSIS TYPE III |
|
|
45 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
601675
TRICHOTHIODYSTROPHY PHOTOSENSITIVE |
|
10 |
45 |
12 |
saker@genethon.fr |
2008-06-26 |
|
| |
607208
SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI (UNDEFINED) |
G40.3
Generalized idiopathic epilepsy and epileptic syndromes |
15 |
44 |
15 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
180849
RUBINSTEIN-TAYBI SYNDROME |
|
38 |
43 |
36 |
saker@genethon.fr |
2008-06-26 |
|
| |
251900
MITOCHONDRIAL MYOPATHY |
|
25 |
42 |
31 |
saker@genethon.fr |
2008-06-26 |
|
| |
268000
RETINITIS PIGMENTOSA |
|
13 |
42 |
19 |
saker@genethon.fr |
2008-06-26 |
|
| |
OTHER MTDNA POINT MUTATIONS |
|
|
42 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
108110
ARTHROGRYPOSIS MULTIPLEX CONGENITA |
|
17 |
42 |
16 |
saker@genethon.fr |
2008-06-26 |
|
| |
602036
ERYTHROKERATODERMIA PROGRESSIVE SYMMETRIC |
|
4 |
40 |
14 |
saker@genethon.fr |
2008-06-26 |
|
| |
LIPID STORAGE MYOPATHY |
E75.6
Lipid storage disorder, unspecified |
40 |
40 |
40 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
607155
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I |
G71.0
Muscular dystrophy (LGMD 2I with mutation in FKRP) |
11 |
39 |
14 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
545000
MERRF |
|
|
38 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
118600
CHONDROCALCINOSIS 2 |
|
10 |
38 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
540000
MELAS |
|
|
38 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
535000
LEBER |
|
|
37 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
188400
DIGEORGE SYNDROME |
|
18 |
37 |
18 |
saker@genethon.fr |
2008-06-26 |
|
| |
MELAS/MERRF |
G71.3
Mitochondrial myopathy, not elsewhere classified |
37 |
37 |
37 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
300376
MUSCULAR DYSTROPHY BECKER TYPE |
|
25 |
37 |
27 |
saker@genethon.fr |
2008-06-26 |
|
| |
160900
DYSTROPHIA MYOTONICA 1 (DEFINED) |
G71.1
Myotonic disorders |
25 |
37 |
33 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
253700
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C |
G71.0
Muscular dystrophy (LGMD 2C with mutation in gamma-SG) |
12 |
36 |
20 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
256500
NETHERTON SYNDROME |
|
9 |
36 |
10 |
saker@genethon.fr |
2008-06-26 |
|
| |
255110
CPT DEFICIENCY |
|
|
35 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
144200
PALMOPLANTAR KERATODERMA VORNER TYPE |
|
1 |
35 |
16 |
saker@genethon.fr |
2008-06-26 |
|
| |
253550
WERDNIG-HOFFMANN;SMA1, SMA2 |
|
|
35 |
35 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
601144
BRUGADA SYNDROME |
|
5 |
34 |
7 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
232300
GLYCOGENOSIS TYPE II, POMPE |
G74.0
Glycogen storage disease |
34 |
34 |
34 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY,X-LINKED; EDMD1 |
G71.0
Muscular dystrophy (Emery-Dreifuss) |
7 |
34 |
14 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
160900
DYSTROPHIA MYOTONICA (UNDEFINED) |
G71.1
Myotonic disorders |
27 |
32 |
26 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
INCLUSION BODY MYOSITIS |
G72.4
Inflammatory myopathy, not elsewhere classified |
32 |
32 |
32 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
130000
EHLERS-DANLOS SYNDROME TYPE 1 |
|
4 |
31 |
7 |
saker@genethon.fr |
2008-06-26 |
|
| |
310100
BECKER DYSTROPHY;BMD |
G71.0
|
|
31 |
31 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
256850
GIANT AXONAL NEUROPATHY 1 |
|
11 |
30 |
19 |
saker@genethon.fr |
2008-06-26 |
|
| |
253700
GAMMA-SARCOGLYCANOPATHY; LGMD2C |
G71.0
|
|
30 |
30 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
192600
HYPERTROPHIC CARDIOMYOPATHY |
|
20 |
29 |
20 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
253601
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B |
G71.0
Muscular dystrophy (LGMD 2B) |
24 |
29 |
24 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
275630
TRIGLYCERIDE STORAGE DISEASE |
|
7 |
29 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
117210
CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT |
|
12 |
29 |
22 |
saker@genethon.fr |
2008-06-26 |
|
| |
266100
EPILEPSY PYRIDOXINE-DEPENDENT |
|
7 |
29 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
152460
LOBULAR GLOMERULOPATHY FAMILIAL |
|
1 |
28 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
|
Ichthyosis controls |
16 |
28 |
|
mposada@isciii.es |
2008-05-30 |
|
| |
255800
SCHWARTZ-JAMPEL SYNDROME |
|
11 |
27 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
173650
KINDLER SYNDROME |
|
7 |
27 |
10 |
saker@genethon.fr |
2008-06-26 |
|
| |
191900
MUCKLE-WELLS SYNDROME |
|
5 |
26 |
12 |
saker@genethon.fr |
2008-06-26 |
|
| |
193200
VITILIGO |
|
4 |
26 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
109650
BECHET SYNDROME |
M 35.1
Bechet's Disease |
22 |
25 |
21 |
mposada@isciii.es |
2008-05-30 |
|
| |
255110
CPT DEFICIENCY |
E71.3
Disorders of fatty-acid metabolism |
25 |
25 |
25 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
132100
EPILEPSY PHOTOGENIC |
|
4 |
25 |
11 |
saker@genethon.fr |
2008-06-26 |
|
| |
604286
BETA-SARCOGLYCANOPATHY; LGMD2E |
G71.0
|
|
24 |
24 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
156225
MEROSINOPATHY;LAMA2 |
G71.0
|
|
23 |
23 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
SCAPULO-PERONEAL DYSTROPHY |
G71.0
Muscular dystrophy |
23 |
23 |
23 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
164300
OCULO-PHARYNGEAL DYSTROPHY |
G71.0
Muscular dystrophy |
22 |
22 |
22 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
204500
JANSKY-BIELSCHOWSKY DISEASE |
|
5 |
22 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
146590
ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE |
|
3 |
22 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
607855
MEROSINOPATHY, LAMA2 |
G71.2
Congenital myopathies |
21 |
22 |
22 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
224900
ECTODERMAL DYSPLASIA ANHIDROTIC |
|
6 |
22 |
10 |
saker@genethon.fr |
2008-06-26 |
|
| |
607432
LISSENCEPHALY |
|
9 |
21 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
160900
MYOTONIC DYSTROPHY, STEINERT, DM1 |
|
|
21 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232600
GLYCOGENOSIS TYPE V, MC ARDLE |
G74.0
Glycogen storage disease |
21 |
21 |
21 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
307800
HYPOPHOSPHATEMIA X-LINKED |
|
10 |
21 |
11 |
saker@genethon.fr |
2008-06-26 |
|
| |
604117
VOHWINKEL SYNDROME |
|
3 |
20 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
601001
EPIDERMOLYSIS BULLOSA SIMPLEX |
|
4 |
20 |
8 |
saker@genethon.fr |
2008-06-26 |
|
| |
181400
AMYOTROPHY SCAPULOPERONEAL |
|
9 |
20 |
10 |
saker@genethon.fr |
2008-06-26 |
|
| |
310600
NORRIE DISEASE; NDP (DEFINED) |
H35.0
Background retinopathy and retinal vascular changes |
1 |
20 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
214400
CHARCOT-MARIE-TOOTH DISEASE TYPE 4A |
|
7 |
20 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
164400
SPINOCEREBELLAR ATAXIA 1 |
|
5 |
20 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
162200
NEUROFIBROMATOSIS |
|
14 |
20 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
253600
LGMD2A, CALPAINOPATHY |
G71.0
Muscular dystrophy |
18 |
20 |
20 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
107970
RVAD |
|
2 |
20 |
2 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
109150
SPINOCEREBELLAR ATAXIA, SCA1, SCA2, SCA6, SCA8, SCA7, SCA5, SCA19, SCA10, SCA17, SCA12, SCA27, SCA25, SCA21, SCA16, SCA14, SCA15 (UNDEFINED) |
G11.1
Early-onset cerebellar ataxia |
12 |
20 |
11 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
236200
HOMOCYSTINURIA |
|
7 |
19 |
10 |
saker@genethon.fr |
2008-06-26 |
|
| |
253601
LGMD2B, DYSFERLINOPATHY |
G71.0
Muscular dystrophy |
18 |
19 |
19 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
249100
FAMILIAL MEDITERRANEAN FEVER; FMF |
|
10 |
19 |
9 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
309550
FRAGILE X SYNDROME |
|
10 |
19 |
10 |
saker@genethon.fr |
2008-06-26 |
|
| |
128230
DYSTONIA PROGRESSIVE WITH DIURNAL VARIATION |
|
9 |
19 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
182290
SMITH-MAGENIS SYNDROME |
|
6 |
19 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
194070
NEPHROBLASTOMA |
|
15 |
18 |
16 |
saker@genethon.fr |
2008-06-26 |
|
| |
CENTRONUCLEAR MYOPATHY |
G71.2
Congenital myopathies |
18 |
18 |
18 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
253400
KUGELBERG-WELANDER;SMA3 |
|
|
18 |
18 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
540000
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS, MERRF, LEIGH (DEFINED) |
G71.3
Mitochondrial myopathy, not elsewhere classified |
10 |
18 |
9 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
135100
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA |
|
8 |
18 |
9 |
saker@genethon.fr |
2008-06-26 |
|
| |
119530
OROFACIAL CLEFT 1 |
|
1 |
18 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
FIBER TYPE DISPROPORTION |
G71.2
Congenital myopathies |
17 |
17 |
17 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
229300
FRIEDREICH ATAXIA 1, FRDA |
G 11.1
Cerebellar ataxia, Friedreich |
17 |
17 |
17 |
mposada@isciii.es |
2008-05-30 |
|
| |
182125
SEPIAPTERIN REDUCTASE; SPR |
|
5 |
17 |
7 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
159001
LAMINOPATHY; LMNA |
G71.0
|
|
16 |
16 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
232600
MC ARDLE DISEASE |
|
|
16 |
16 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
143100
HUNTINGTON DISEASE |
|
14 |
16 |
14 |
saker@genethon.fr |
2008-06-26 |
|
| |
184500
STEATOCYSTOMA MULTIPLEX |
|
6 |
16 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
105830
ANGELMAN SYNDROME |
|
6 |
16 |
8 |
saker@genethon.fr |
2008-06-26 |
|
| |
300257
DANON DISEASE; LAMP2 |
|
|
16 |
16 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
CENTRALCORE MYOPATHY |
G71.2
Congenital myopathies |
16 |
16 |
16 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
313200
KENNEDY DISEASE; SBMA |
|
|
15 |
15 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
607801
CAVEOLINOPATHY;LGMD1C |
G71.0
|
|
15 |
15 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
115200
DILATED CARDIOMYOPATHIES |
|
15 |
15 |
15 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
117360
CEREBELLAR ATAXIA |
|
2 |
15 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
DYSTONIA, TORSION ( UNDEFINED) |
G24
|
3 |
15 |
3 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
146750
ICHTHYOSIS LAMELLAR , AUTOSOMAL DOMINANT FORM |
|
3 |
15 |
11 |
saker@genethon.fr |
2008-06-26 |
|
| |
MTDNA DEPLETION |
|
|
15 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
230500
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I |
|
8 |
15 |
2 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
170400
HYPOKALEMIC PERIODIC PARALYSIS |
|
9 |
15 |
12 |
saker@genethon.fr |
2008-06-26 |
|
| |
131900
EPIDERMOLYSIS BULLOSA KOBNER TYPE |
|
3 |
14 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
NEMALINE MYOPATHY |
G71.2
Congenital myopathies |
14 |
14 |
14 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
162500
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP (DEFINED) |
G60.0
Hereditary motor and sensory neuropathy |
6 |
14 |
10 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
CMT LOM (DEFINED) |
G60.0
Hereditary motor and sensory neuropathy |
3 |
14 |
3 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
600546
INTRAUTERINE GROWTH RETARDATION- SECKEL SYNDROME |
|
3 |
14 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
109400
BASAL CELL NEVUS SYNDROME |
|
3 |
14 |
7 |
saker@genethon.fr |
2008-06-26 |
|
| |
248800
MARINESCO-SJOGREN SYNDROME |
|
3 |
14 |
8 |
saker@genethon.fr |
2008-06-26 |
|
| |
107970
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL |
|
6 |
14 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
600117
DYSPHASIA FAMILIAL DEVELOPMENTAL |
|
4 |
14 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
177850
PSEUDOXANTOMA ELASTICUM |
|
4 |
14 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
143100
HUNTINGTON DISEASE; HD |
|
13 |
14 |
14 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
190345
TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC |
|
2 |
14 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
312700
RETINOSCHISIS 1 |
|
13 |
14 |
14 |
saker@genethon.fr |
2008-06-26 |
|
| |
159001
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B |
G71.0
Muscular dystrophy (LGMD 1B) |
11 |
13 |
13 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
245800
LAURENCE-MOON SYNDROME |
|
5 |
13 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D |
G71.0
Muscular dystrophy (LGMD 2D with mutation in alpha-SG) |
3 |
13 |
5 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
132090
EPILEPSY BENIGN OCCIPITAL |
|
2 |
13 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
301000
WISKOTT-ALDRICH SYNDROME |
|
10 |
13 |
13 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DMD CARRIER |
|
|
13 |
13 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
154700
MARFAN SYNDROME |
|
9 |
13 |
12 |
saker@genethon.fr |
2008-06-26 |
|
| |
170400
CHANNELLOPATHIES |
|
4 |
13 |
4 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
302500
CEREBELLAR ATAXIA 2 |
|
3 |
13 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
216400
COCKAYNE SUNDROME |
|
7 |
13 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
242500
ICHTHYOSIS CONGENITA HARLEQUIN FETUS TYPE |
|
3 |
12 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
605275
NOONAN SYNDROME 2 |
|
2 |
12 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
600962
PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC UNNA-THOST DISEASE |
|
1 |
12 |
7 |
saker@genethon.fr |
2008-06-26 |
|
| |
607855
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
G71.2
Congenital myopathies (Muscular Dystrophy with primary Merosinopathy) |
3 |
12 |
3 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
270550
SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE |
|
2 |
12 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
SPINOCEREBELLAR/CEREBELLAR ATAXIA |
G11
Hereditary ataxia |
12 |
12 |
12 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
146750
ICHTHYOSIS, LAMELLAR |
Q80.2
ICHTHYOSIS, LAMELLAR Q80.2 |
6 |
12 |
12 |
mposada@isciii.es |
2008-05-30 |
|
| |
308350
INFANTILE SPASM SYNDROME- WEST SYNDROME |
|
3 |
12 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
135290
DESMOID DISEASE |
|
12 |
12 |
12 |
saker@genethon.fr |
2008-06-26 |
|
| |
CONNECTIVITIS |
M35
Other systemic involvement of connective tissue |
12 |
12 |
12 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F |
G71.0
Muscular dystrophy (LGMD 2F with mutation in delta-SG) |
1 |
12 |
2 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY |
|
|
12 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
PEHO SYNDROME (UNDEFINED) |
H47.2 G93.4
Optic atrophy, progressive encephalopathy, edema |
1 |
12 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
170400
HYPOKALIEMIC PERIODIC PARALYSIS |
G72.3
Periodic paralysis |
11 |
12 |
12 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
212840
CEREBELLAR ATAXIA |
G 11.3
Cerebellar ataxia |
8 |
11 |
11 |
mposada@isciii.es |
2008-05-30 |
|
| |
137750
PRIMARY OPEN ANGLE GLAUCOMA |
|
2 |
11 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
602668
MYOTONIC DYSTROPHY; DM2 |
G71.1
|
|
11 |
11 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
133200
ERYTHROKERATODERMIA VARIABILIS |
|
2 |
11 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
131800
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET |
|
4 |
11 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
118400
CHERUBISM |
|
2 |
11 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
261630
PHENYLKETONURIA II |
|
3 |
11 |
4 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
168000
PARAGANGLIOMAS 1 |
|
1 |
11 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
213300
JOUBERT SYNDROME |
|
3 |
10 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
100600
ACANTHOSIS NIGRICANS |
|
1 |
10 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
607801
LGMD1C, CAVEOLINOPATHY |
G71.0
Muscular dystrophy |
4 |
10 |
10 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
167200
PACHYONYCHIA CONGENITA TYPE 1 |
|
1 |
10 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
600467
SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 4 |
|
7 |
10 |
|
saker@genethon.fr |
2008-06-26 |
|
| |
117100
BENIGN ROLANDIC EPILEPSY |
|
3 |
10 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
ESSENTIAL HYPERCKEMIA |
|
|
10 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
173900
POLYCISTIC KIDNEY; AUTOSOMAL DOMINANT |
|
2 |
10 |
2 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
272800
TAY-SACHS DISEASE |
|
2 |
10 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
256730
CEROID LIPOFUSCINOSIS NEURONAL 1 |
|
3 |
9 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
604286
LGMD2E, BETA-SARCOGLYCANOPATHY |
|
|
9 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
CONGENITAL DYSTROPHIES |
|
|
9 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
148210
KERATITIS ICHTHYOSIS DEAFNESS SYNDROME |
|
2 |
9 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
MTDNA MACRODELETIONS |
|
|
9 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310200
DMD/BMD CARRIER |
|
|
9 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
271900
CANAVAN DISEASE |
|
2 |
9 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
219700
CYSTIC FIBROSIS |
|
3 |
9 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
256600
NEUROAXONAL DYSTROPHY INFANTILE |
|
3 |
9 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
601952
KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA |
|
1 |
9 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
117000
CENTRALCORE MYOPATHY |
G71.2
Congenital myopathies (Central core disease) |
9 |
9 |
9 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
232300
GLYCOGEN STORAGE DISEASE II |
E74.0
Glycogen storage disease (Type II) |
3 |
9 |
3 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
255100
LIPID STORAGE MYOPATHY |
|
9 |
9 |
9 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
601152
PERIPHERAL NEUROPATHY AND OPTIC ATROPHY |
|
4 |
9 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
607155
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I |
G71.0
Muscular dystrophy (LGMD 2H with mutation inTRIM32) |
5 |
9 |
5 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
270300
SKIN PEELING? FAMILIAL CONTINUOUS |
|
2 |
9 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
601887
SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 5 |
|
3 |
9 |
|
saker@genethon.fr |
2008-06-26 |
|
| |
267750
KNOBLOCH SYNDROME |
H54.0
Blidness, both eyes |
1 |
9 |
2 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
313200
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 |
G12.1
Other spinal muscular atrophies and related syndromes (spinobulbar form, Type Kennedy) |
2 |
9 |
7 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
253280
MUSCLE-EYE-BRAIN DISEASE |
|
4 |
9 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
268400
ROTHMUND-THOMSON SYNDROME |
|
4 |
9 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
250100
METACHROMATIC LEUKODYSTROPHY |
|
2 |
8 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
150800
LEIOMYOMA OF SKIN |
|
1 |
8 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
302045
X-L DILATED CARDIOMYOPATHIES |
|
3 |
8 |
3 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
300100
ADRENOLEUKODYSTROPHY |
|
5 |
8 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
312080
PELIZAEUS-MERZBACHER DISEASE |
|
3 |
8 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
607155
LGMD2I, FKRP |
|
|
8 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
602783
SPASTIC PARAPARESIS (PARAPLEGIN. DEF.) |
|
|
8 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
277900
WILSON DISEASE |
|
4 |
8 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
146700
ICHTHYOSIS VULGARIS |
|
2 |
8 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
PEO 3243 POINT MUTATIONS |
|
|
8 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
DISENDOCRINE MYOPATHY |
G73.5*
Myopathy in endocrine diseases |
8 |
8 |
8 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
MARINESCO SJOGREN SYNDROME/CCFDN (UNDEFINED) |
M62.5
Muscle wasting and atrophy, not elsewhere classified |
4 |
8 |
5 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
IBM |
|
|
8 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
182601
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG4 |
G11.4
Hereditary spastic paraplegia |
2 |
8 |
8 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
232300
ACID MALTASE DEFICIENCY |
|
3 |
8 |
6 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
229300
FRIEDREICH ATAXIA |
|
4 |
8 |
4 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
182601
SPASTICA PARAPLEGIA, SPG4 |
|
|
8 |
8 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
266500
REFSUM DISEASE |
|
2 |
8 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
152700
SYSTEMIC LUPUS ERYTHEMATOSUS |
|
3 |
7 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
120220
BETHLEM MYOPATHY |
G71.2
Congenital myopathy (Bethlem myopathy) |
3 |
7 |
6 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
220110
COX DEFECT |
|
|
7 |
7 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
118200
CHARCOT-MARIE-TOOTH; CMT |
|
4 |
7 |
7 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
310400
MYOTUBULAR MYOPATHY 1; MTM1 |
G71.2
Congenital myopathies (Myotubular myopathy, x-linked) |
1 |
7 |
3 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
154276
SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 3 |
|
5 |
7 |
|
saker@genethon.fr |
2008-06-26 |
|
| |
308800
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS |
|
1 |
7 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
TUBULAR AGGREGATES |
G71.2
Congenital myopathies |
7 |
7 |
7 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD (UNDEFINED) |
G71.0
Muscular dystrophy |
4 |
7 |
4 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
143100
HUNTINGTON DISEASE (UNDEFINED) |
G10
Huntingon?s disease |
5 |
7 |
5 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
160900
DYSTROPHIA MYOTONICA 1 |
G 71.1
Steinert's Disease |
1 |
7 |
7 |
mposada@isciii.es |
2008-05-30 |
|
| |
270200
SJOGREN-LARSSON SYNDROME |
|
3 |
7 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
305600
GOLTZ SYNDROME |
|
2 |
7 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
186600
MULTIPLE SYRINGOMAS |
|
2 |
7 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
300100
ADRENOLEUKODYSTROPHY; ALD (UNDEFINED) |
Q98
Disorders of fatty-acid metabolism |
4 |
7 |
5 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
229300
FRIEDREICH ATAXIA; FXA |
|
|
7 |
7 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
214500
CHEDIAK-HIGASHI SYNDROME |
|
2 |
7 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
253700
LGMD2C, GAMMA-SARCOGLYCANOPATHY |
G71.0
Muscular dystrophy |
4 |
7 |
7 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
MINICORE MYOPATHY |
G71.2
Congenital myopathies |
7 |
7 |
7 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
159001
LGMD1B, LMNA |
G71.0
Muscular dystrophy |
6 |
6 |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E |
G71.0
Muscular dystrophy (LGMD 2E with mutation in beta-SG) |
5 |
6 |
6 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
265000
ESCOBAR SYNDROME |
|
1 |
6 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY |
G71.0
Muscular dystrophy |
6 |
6 |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
310300
EDMD X-LINKED |
G71.0
Muscular dystrophy |
6 |
6 |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
310200
DUCHENNE/BECKER DYSTROPHY |
G71.0
|
|
6 |
6 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
601003
BRODY MYOPATHY |
|
4 |
6 |
6 |
saker@genethon.fr |
2008-06-26 |
|
| |
194300
WOOLLY HAIR SYNDROME AUTOSOMAL DOMINANT |
|
1 |
6 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
256730
CEROID LIPOFUSCINOSIS (UNDEFINED) CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9 |
E75.4
Neuronal ceroid lipofuscinosis |
3 |
6 |
3 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
312750
RETT SYNDROME (UNDEFINED) |
F84.2
Rett's syndrome |
1 |
6 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
276900
USHER SYNDROME TYPE 1A |
|
2 |
6 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
602783
SPASTIC PARAPARESIS (PARAPLEGIN DEF.) |
G11.4
Hereditary spastic paraplegia |
2 |
6 |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
256000
LEIGH SYNDROME |
|
3 |
6 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
236670
WALKER-WARBURG SYNDROME |
|
3 |
6 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
310200
DUCHENNE MUSCULAR DYSTROPHY; DMD |
|
6 |
6 |
6 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
167210
PACHYONYCHIA CONGENITA? JACKSON-LAMLER TYPE |
|
1 |
6 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
161800
NEMALINE MYOPATHY 3; NEM3 (UNDEFINED) |
G72.9
other myopathies |
2 |
6 |
2 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
MAD DEFICIENCY |
|
|
6 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
226450
EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA |
|
1 |
6 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
194190
WOLF-HIRSCHHORN SYNDROME |
|
2 |
6 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
255320
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (UNDEFINED) |
G71.2
Congenital myopathies |
2 |
6 |
4 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
313200
SPINAL BULBAR MUSCULAR ATROPHY, KENNEDY |
G12.8
Other spinal muscular atrophies and related syndromes |
6 |
6 |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
162500
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP (UNDEFINED) |
G60.0
Hereditary motor and sensory neuropathy |
5 |
6 |
5 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
130050
EHLERS-DANLOS SYNDROME TYPE IV |
|
1 |
6 |
4 |
saker@genethon.fr |
2008-06-26 |
|
| |
300322
LESCH NYAN SYNDROME |
|
1 |
6 |
3 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
|
G71.3
Mitochondrial myopathy, not elsewhere classified (Respiratory Chain deficiency) |
6 |
6 |
6 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
248700
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA |
H49.4
Progressive external ophthalmoplegia (CPEO) |
5 |
5 |
5 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
302045
CHARCOT-MARIE-TOOTH; CMT + DEAFNESS |
|
2 |
5 |
5 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
606612
CMD, MUSCULAR DYSTROPHY, CONGENITAL (UNDEFINED) |
G71.2
Congenital myopathies |
5 |
5 |
5 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
204500
CEROID LIPOFUSCINOSIS CLN2 (DEFINED) |
E75.4
Neuronal ceroid lipofuscinosis |
2 |
5 |
2 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
312080
PELIZAEUS-MERZBACHER SYNDROME (PMD) (UNDEFINED) |
G36
Other acut disseminated demyelinisation |
2 |
5 |
3 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
117550
SOTOS SYNDROME |
|
2 |
5 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
231070
GERODERMA OSTEODYSPLASTICA |
|
1 |
5 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
131850
EPIDERMOLYSIS BULLOSA PRETIBIAL |
|
1 |
5 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
607801
MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 1C |
|
5 |
5 |
5 |
saker@genethon.fr |
2008-06-26 |
|
| |
MARINESCO SJOGREN SYNDROME/CCFDN (DEFINED) |
M62.5
Muscle wasting and atrophy, not elsewhere classified |
2 |
5 |
2 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
604320
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1 (DEFINED) |
G12
Spinal muscular atrophy and related syndromes |
1 |
5 |
2 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
180200
RETINOBLASTOMA RB1 (UNDEFINED) |
H54.0
Blidness, both eyes |
2 |
5 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
160150
MYOPATHY, CENTRONUCLEAR (UNDEFINED) |
G71.2
Congenital myopathies |
1 |
5 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
173200
PITYRIASIS RUBRA PILARIS |
|
1 |
5 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
219700
CYSTIC FIBROSIS; CF |
E 84
Fibrosis quistic |
5 |
5 |
5 |
mposada@isciii.es |
2008-05-30 |
|
| |
270550
SPASTIC ATAXIA |
G 11.4
Hereditary spastic paraplegia |
5 |
5 |
5 |
mposada@isciii.es |
2008-05-30 |
|
| |
177000
PROTOPORPHYRIA ERYTHROPOIETIC |
|
3 |
5 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
106200
ANIRIDIA |
|
1 |
5 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
604286
LGMD2E, BETA-SARCOGLYCANOPATHY |
G71.0
Muscular dystrophy |
4 |
5 |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
602668
MYOTONIC DYSTROPHY TYPE 2, PROMM, DM2 |
G71.1
Myotonic disorders |
5 |
5 |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
309900
HUNTER SYNDROME |
|
2 |
5 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
DYSTONIA, TORSION (DEFINED) |
G24
|
1 |
5 |
3 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
255110
CPT DEFICIENCY |
|
|
5 |
5 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
216550
COHEN SYNDROME |
|
3 |
5 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
607801
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C |
G71.0
Muscular dystrophy (LGMD 1C) |
5 |
5 |
5 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
305450
FG SYNDROME |
|
2 |
5 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
607155
LGMD2I, FKRP |
G71.0
Muscular dystrophy |
4 |
5 |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
229300
FRIEDREICH ATAXIA (UNDEFINED) |
G11.1
Early-onset cerebellar ataxia |
4 |
5 |
5 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
309400
MENKES DISEASE |
|
2 |
4 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
244200
KALLMANN SYNDROME 3 |
|
1 |
4 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
175850
POROKERATOSIS PLANTARIS? PALMARIS ET DISSEMINATA |
|
2 |
4 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
278700
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A |
|
1 |
4 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
270550
SPASTIC ATAXIA; SACS |
|
|
4 |
4 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
601287
DELTA-SARCOGLYCANOPATHY; LGMD2F |
G71.0
|
|
4 |
4 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
607423
CONGENITAL DYSTROPHY. POMT1 |
G71.2
Congenital myopathies |
4 |
4 |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
301845
BAZEX SYNDROME |
|
1 |
4 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
242100
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS |
Q 80
Congenital ichthyosis |
2 |
4 |
4 |
mposada@isciii.es |
2008-05-30 |
|
| |
116700
TOTAL CONGENITAL CATARACT |
|
2 |
4 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
201100
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY |
|
1 |
4 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
217200
CONVULSIVE DISORDER WITH ORENATAL OR EARLY ONSET |
|
1 |
4 |
|
saker@genethon.fr |
2008-06-26 |
|
| |
153640
FECHTENER SYNDROME |
|
1 |
4 |
1 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
MYASTENIC SYNDROME |
G70.2
Congenital and developmental myasthenia |
2 |
4 |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
308205
ICHTHYOSIS FOLLICULARIS ATRICHIA AND PHOTOPHOBIA SYNDROME |
|
1 |
4 |
2 |
saker@genethon.fr |
2008-06-26 |
|
| |
193700
FREEMAN-SHELDON SYNDROME |
|
1 |
4 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
313200
SPINAL BULBAR ATROPHY, KENNEDY |
|
|
4 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
312910
SPASTICUS PARAPARESIS |
|
4 |
4 |
4 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
153700
MACULAR DYSTROPHY, VITELLIFORM |
|
1 |
4 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
253700
LGMD2C, GAMMA-SARCOGLYCANOPATHY |
|
|
4 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
160500
MYOPATHY DISTAL 1 |
|
1 |
4 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
158900
FACIO-SCAPULO-HUMERAL MUSCULAR DYSTROPHY; FSHD1 |
|
4 |
4 |
4 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
162200
NEUROFIBROMATOSIS, TYPE I; NF1 |
|
2 |
4 |
1 |
edith.said@um.edu.mt |
2008-08-27 |
|
| |
150230
LANGER-GIEDION SYNDROME |
|
1 |
4 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
308240
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (UNDEFINED) |
D47.9
Neoplasm of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue, unspecified |
1 |
4 |
4 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
606612
CONGENITAL DYSTROPHY. FKRP |
G71.2
Congenital myopathies |
4 |
4 |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
146800
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS |
Q80.3
Congenital bullous ichthyosiform erythroderma |
3 |
4 |
4 |
mposada@isciii.es |
2008-05-30 |
|
| |
269500
SCLEROSTEOSIS |
|
1 |
4 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
301220
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS |
|
1 |
4 |
|
saker@genethon.fr |
2008-06-26 |
|
| |
148600
KERATOSIS PALMOPLANTARIS PAPULOSA |
|
2 |
4 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
LIPID STORAGE MYOPATHY |
|
|
4 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232300
GLYCOGENOSIS TYPE II, POMPE |
|
|
3 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
269920
INFANTILE SIALIC ACID STORAGE DISORDER |
|
1 |
3 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
270100
SITUS INVERSUS VISCERUM |
|
1 |
3 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
227810
FANCONI-BICKEL SYNDROME |
|
3 |
3 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AD-LINKED; EDMD; LMNA (DEFINED) |
G71.0
Muscular dystrophy |
1 |
3 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
263700
CONGENITAL ERYTHROPOIETIC PORPHYRIA |
|
3 |
3 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
310440
MYOPATHY WITH EXCESSIVE AUTOPHAGY |
|
2 |
3 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
260400
SHWACHMAN-DIAMOND SYNDROME (UNDEFINED) |
|
1 |
3 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
193700
FRREMAN SHELDOM SYNDROME |
|
1 |
3 |
1 |
luisa.politano@unina2.it |
2008-06-30 |
|
| |
164300
OCULO-PHARYNGEAL |
|
|
3 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
256030
NEMALINE MYOPATHY; NEM2 |
|
|
3 |
3 |
marina.fanin@unipd.it |
2008-07-04 |
|
| |
190685
DOWN?S SYNDROME (UNDEFINED) |
Q90.9
Down syndrome |
1 |
3 |
1 |
karcagi.veronika@oki.antsz.hu |
2008-07-07 |
|
| |
146800
ICHTHYOSIS BULLOUS TYPE |
|
1 |
3 |
1 |
saker@genethon.fr |
2008-06-26 |
|
| |
CONGENITAL MYASTENIA |
G70.2
Congenital and developmental myasthenia |
3 |
3 |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
168300
CONGENITAL PARAMYOTONIA SCN4A |
G71.1
Myotonic disorders |
1 |
3 |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
232500
GLYCOGENOSIS TYPE X |
|
|
3 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
551500
NARP |
|
|
3 |
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
303100
CHOROIDEREMIA |
|
3 |
3 |
3 |
saker@genethon.fr |
2008-06-26 |
|
| |
180200
RETINOBLASTOMA; RB1 |
|
2 |
3 |
3 |
edith.said@um.edu.mt |
2008-08-27 |
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