Phenotypes for disease #02734 (LGMDR3;LGMD2D (dystrophy, muscular, limb-girdle, autosomal recessive, type 3 (LGMD2D)), OMIM:608099)

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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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Operator	Column type	Example	Matches
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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'

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17 entries on 1 page. Showing entries 1 - 17.

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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
0000051923	proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093)	-	-	Familial, autosomal recessive	-	-	03y	Myalgia (HP:0003326)	-	Jamie Zeegers	00072218
0000051924	proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), loss of ambulation (HP:0002540), palpitation (HP:0001962), mild respiratory impairment (HP:0002093)	-	-	Familial, autosomal recessive	-	-	05y	Myalgia (HP:0003326)	-	Jamie Zeegers	00072219
0000051925	proximal muscle weakness (HP:0003701), loss of ambulation (HP:0002540), respiratory impairment (HP:0002093)	-	-	Familial, autosomal recessive	-	-	<05y	easy falling (HP:?)	-	Jamie Zeegers	00072220
0000051926	proximal muscle weakness (HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093)	-	-	Familial, autosomal recessive	-	-	06y	Bizarre gait (HP:0001288)	-	Jamie Zeegers	00072221
0000051927	no proximal muscle weakness (-HP:0003701), calf hypertrophy (HP:0008981), no loss of ambulation (-HP:0002540), no cardiac involvement (-HP:0001627), no respiratory impairment (-HP:0002093)	-	-	Familial, autosomal recessive	-	-	-	hyperCKemia (HP:?)	-	Jamie Zeegers	00072223
0000060530	Muscular dystrophy, limb-girdle, type 2D (OMIM:608099)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080961
0000060533	Muscular dystrophy, limb-girdle, type 2D (OMIM:608099)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080964
0000092599	limb girdle muscle weakness (HP:0003325)	-	-	Familial, autosomal recessive	40y	40y	07y	-	-	Aurelio Hernández-Laín	00117365
0000092605	prominent scapular winging (HP:0003691), pelvic girdle muscle weakness (HP:0003749)	-	-	Familial, autosomal recessive	-	-	07y	-	-	Aurelio Hernández-Laín	00117373
0000092610	pelvic girdle muscle weakness (HP:0003749)	-	-	Familial, autosomal recessive	-	-	40y	-	-	Aurelio Hernández-Laín	00117378
0000105385	HP:0003327 HP:0003325	-	-	Familial, autosomal recessive	53y	-	-	HP:0009073	-	Lidia Gonzalez-Quereda	00132620
0000155432	-	Muscular dystrophy	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	Familial, autosomal recessive	-	-	-	-	No muscle bipsy performed.	Miguel Angel Alcántara-Ortigoza	00207629
0000228722	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Helen Latsoudis	00301616
0000326786	CK level 16,408U/L; proximal muscle atrophy, beginning in lower extremities, weakness muscles shoulder/arms	limb-girdle muscular dystrophy	LGMDR3	Familial, autosomal recessive	29y	08y	08y	-	-	Nguyen Hoang	00436663
0000326787	CK level 16408.3U/L; proximal muscle atrophy, beginning in lower extremities, weakness muscles shoulder/arms, difficulties climbing stairs/standing up/sitting; no lumbar lordosis	limb-girdle muscular dystrophy	LGMDR3	Familial, autosomal recessive	09y	08y	08y	-	-	Nguyen Hoang	00436664
0000326788	CK level 1,900U/L; weakness muscles shoulder/arms, difficulties climbing stairs/standing up/sitting down; 8y-lumbar lordosis appears	limb-girdle muscular dystrophy	LGMDR3	Familial, autosomal recessive	14yy	07y	07y	-	-	Nguyen Hoang	00436665
0000353592	delayed motor milestones, difficulty running/climbing stairs,; progressive limb-girdle muscle weakness, proximal greater than distal; elevated serum CK; severe dilated cardiomyopathy; wheelchair-bound in adulthood	limb-girdle muscular dystrophy	LGMDR3	Familial, autosomal recessive	41y	41y	-	delayed motor milestones, difficulty running/climbing stairs	-	Mariana Costa Taveira	00468440

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Global Variome shared LOVD

EIF2B3 (eukaryotic translation initiation factor 2B...)