Phenotypes for disease #01935 (MPS3C (mucopolysaccharidosis, type IIIC (MPS-3C)), OMIM:252930)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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112 entries on 2 pages. Showing entries 1 - 100.

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Phenotype 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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Global Variome shared LOVD

IRF5 (interferon regulatory factor 5)