Phenotypes for disease #01935 (MPS-3C (mucopolysaccharidosis, type IIIC (MPS-3C)), OMIM:252930)

110 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000087800 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112236
0000087801 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112237
0000087802 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112238
0000087803 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112239
0000087804 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112240
0000087805 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112241
0000087806 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112242
0000087807 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112243
0000087808 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112244
0000087809 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112245
0000087810 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112246
0000087811 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112247
0000087812 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112248
0000087813 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112249
0000087814 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112250
0000087815 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112251
0000087816 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112252
0000087817 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112253
0000087818 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112254
0000087819 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112255
0000087820 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112256
0000087821 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112257
0000087822 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112258
0000087823 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112259
0000087824 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112260
0000087825 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112261
0000087826 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112262
0000087827 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112263
0000087828 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112264
0000087829 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112265
0000087830 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112266
0000087831 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112267
0000087832 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112268
0000087833 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112269
0000087834 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112270
0000087835 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112271
0000087836 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112272
0000087837 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112273
0000087838 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112274
0000087839 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112275
0000087840 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112276
0000087841 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112277
0000087842 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112278
0000087843 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112279
0000087844 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112280
0000087845 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112281
0000087846 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112282
0000087847 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112283
0000087848 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112284
0000087849 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112285
0000087850 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112286
0000087851 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112287
0000087852 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112288
0000087853 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112289
0000087854 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112290
0000087855 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112291
0000087856 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112292
0000087857 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112293
0000087858 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112294
0000087859 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112295
0000087860 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112296
0000087861 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112297
0000087863 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112299
0000087864 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112300
0000087865 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112301
0000087866 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112302
0000087867 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112303
0000087868 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112304
0000087869 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112305
0000087870 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112306
0000087871 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112307
0000087872 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112308
0000087873 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112309
0000087874 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112310
0000087875 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112311
0000087876 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112312
0000087877 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112313
0000087878 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112314
0000087879 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112315
0000087880 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112316
0000087881 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112317
0000087882 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112318
0000087883 - - - Familial, autosomal recessive - - - - - Stéphanie Durand 00112319
0000171343 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240) - - Familial, autosomal recessive 14y 05y 02y06m Speech delay (HP:0000750) - Carla Martins 00226218
0000171344 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240) - - Familial, autosomal recessive 12y 10y 03y Seizures (HP:0001250), speech delay (HP:0000750) - Carla Martins 00226219
0000171345 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 12y 10y 03y Hyperactivity (HP:0000752) - Carla Martins 00226220
0000171346 Hyperactivity (HP:0000752) - - Familial, autosomal recessive 09y 13y 03y Hyperactivity (HP:0000752) - Carla Martins 00226221
0000171347 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943) - - Familial, autosomal recessive 17y 13y 02y speech delay (HP:0000750) - Carla Martins 00226222
0000171349 Intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744) - - Familial, autosomal recessive 14y 12y 02y06m Global developmental delay (HP:0001263) - Carla Martins 00226224
0000171350 Hyperactivity (HP:0000752),intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744) - - Familial, autosomal recessive 10y06m 10y 02y Intelectual disability, progressive (HP:0006887), speech delay (HP:0000750) - Carla Martins 00226225
0000171351 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 22y 18y 03y06m Hyperactivity (HP:0000752) - Carla Martins 00226226
0000171352 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 16y 11y 03y06m Hyperactivity (HP:0000752), speech delay (HP:0000750) - Carla Martins 00226227
0000171353 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 17y 16y 03y06m Hyperactivity (HP:0000752) - Carla Martins 00226228
0000171354 - - - Familial, autosomal recessive ? 09y ? - - Carla Martins 00226229
0000171355 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943) - - Familial, autosomal recessive 09y 09y 02y Hyperactivity (HP:0000752), speech delay (HP:0000750) - Carla Martins 00226230
0000171356 Hyperactivity (HP:0000752) - - Familial, autosomal recessive 10y 11y 03y Hyperactivity (HP:0000752) - Carla Martins 00226231
0000171357 Hyperactivity (HP:0000752) - - Familial, autosomal recessive 16y 17y 01y Hyperactivity (HP:0000752) - Carla Martins 00226232
0000171358 Intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 14y 14y 04y Intelectual disability, progressive (HP:0006887) - Carla Martins 00226233
0000171359 Hyperactivity (HP:0000752) - - Familial, autosomal recessive 08y 08y ? Hyperactivity (HP:0000752) - Carla Martins 00226234
0000171360 Intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 09y 09y ? Hyperactivity (HP:0000752) - Carla Martins 00226235
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