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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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

Some more advanced examples:

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

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

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

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

NMNAT3 (nicotinamide nucleotide adenylyltransferase 3)