Phenotypes for disease #00360 (MDC (dystrophy, muscular, congenital (MDC)))

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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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947 entries on 10 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
0000014951	see paper	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00016342
0000021589	motor and cognitive delay at birth,His developmental milestones were characterized by gross delay. He could control his head movements when he was 8 months old, and sit unsupported at 14 months. When he was 2 years old, he could walk a few steps with help and could say “mother” and “father”. His head circumference was 46.2 cm when he was 2 years old, he had calf muscle hypertrophy and no significant joint contracture, but had mild muscle weakness, and tendon reflexes were absent. Brain MRI revealed type II agyria deformities	-	-	Familial, autosomal recessive	04y	-	-	-	-	Yanghaipo	00025478
0000021590	He had delayed psychomotor development after birth, muscle hypotonia, and early joint contractures; serum CK was moderately elevated; brain MRI revealed brain structural malformations, cerebellar cyst, and bilateral dilatation of the lateral ventricle, and cerebellar and brainstem dysplasia . He died at the age of 10 months,	-	-	Familial, autosomal recessive	00y03m	-	-	-	-	Yanghaipo	00025479
0000021591	He had hypotonia and delayed motor milestones from birth. His head circumference was 48 cm when he was 8 years old and there was muscle weakness and absence of tendon reflexes. He also had optic atrophy. His serum CK level was 2174 U/L.	-	-	Familial, autosomal recessive	-	-	-	-	-	Yanghaipo	00025480
0000021592	developmental milestones were characterized by gross delay	-	-	Familial, autosomal recessive	-	-	-	-	-	Yanghaipo	00025481
0000021597	developmental milestones were characterized by obvious gross delay,Physical examination determined that he had facial myopathy and poor eyesight. His head circumference at the age of 7 years was 49 cm, and he had high arched palate, bilateral knee joint contracture, muscle weakness, and absence of tendon reflexes. Brain MRI revealed bilateral dilation of the lateral and fourth ventricles, brain stem hypoplasia, and a cerebellar cyst The white matter on the left side of the brain had demyelination changes. His serum CK level was 6620 U/L.	-	-	Familial, autosomal recessive	-	-	-	-	-	Yanghaipo	00025485
0000041341	infantile hypotonia and gross motor delay, mild facial weakness, mild ptosis, contractures, scoliosis, biventricular impairment, restrictive lung disease; IHC alphaDG; histology dystrophic	-	-	Familial, autosomal recessive	32y	-	-	-	-	Sandra Cooper	00054662
0000041342	gross motor delay, progression with wheelchair dependency in teenage years, mild facial weakness; CPK elevated (863-1710); histology dystrophic	-	-	Familial, autosomal dominant	25y	-	6m	-	-	Sandra Cooper	00054663
0000041343	gross motor delay, walked age 3y, mild facial weakness, choreoathetosis, rhabdomyolysis, moderate developmental delay; CPK elevated (943-6728); histology dystrophic	-	-	Familial, autosomal recessive	24y	-	6m	-	-	Sandra Cooper	00054664
0000041344	gross motor delay, walked age 6y with support, moderate cognitive delay, leukodystrophy; CPK elevated (5000-7000); IHC alphaDG; histology dystrophic	-	-	Familial, autosomal recessive	19y	-	1y	-	-	Sandra Cooper	00054665
0000041345	gross motor delay, walked with support at 4y, ataxia, congenital cataracts, cerebellar hypoplasia and atrophy; CPK mild elevation (215-309); histology non-specific	-	-	Familial, autosomal recessive	20y	-	6m	-	-	Sandra Cooper	00054666
0000041346	congenital hip dislocation, gross motor delay, walked just prior to 6mo, mild facial weakness; CPK normal; IHC alphaDG; histology dystrophic	-	-	Familial, autosomal recessive	18y	-	6m	-	-	Sandra Cooper	00054667
0000041347	infantile hypotonia, profound global delay, arthrogryposis, seizures; died at 2y; CPK mild elevation (323-554); histology dystrophic	-	-	Familial, autosomal recessive	2y	-	-	-	-	Sandra Cooper	00054668
0000041348	infantile hypotonia, gross motor delay, walked age 4y, non-ambulant from 11y, facial weakness, ophthalmoplegia, contractures, scoliosis; CPK normal; IHC alphaDG; histology non-specific	-	-	Familial, autosomal recessive	29y	-	-	-	-	Sandra Cooper	00054669
0000041349	progression with loss of ambulation at 10y, contractures, scoliosis, restrictive lung disease; CPK mild elevation (448); histology dystrophic	-	-	Familial, autosomal dominant	18y	-	16m	-	-	Sandra Cooper	00054670
0000041350	progressive course with loss of ambulation from 10y, mild facial weakness, scoliosis, restrictive lung disease; CPK mild elevation (57-503); histology dystrophic	-	-	Familial, autosomal recessive	22y	-	6m	-	-	Sandra Cooper	00054671
0000041352	infantile hypotonia, eventration of diaphragm, gross motor delay, mild facial weakness, ptosis, ophthalmoplegia, contractures, gastrostomy fed; CPK normal; IHC alphaDG; histology dystrophic	-	-	Familial, autosomal dominant	22y	-	-	-	-	Sandra Cooper	00054673
0000041353	congenital hypotonia, gross motor delay, mild facial weakness, contractures, scoliosis; EPS consistent with myasthenic syndrome with increased jitter on SFEMG; CPK normal; IHC alphaDG; histology dystrophic	-	-	Familial, autosomal recessive	13y	-	0d	-	-	Sandra Cooper	00054674
0000041354	infantile onset, gross motor delay, proximal weakness, facial weakness, ptosis, ophthalmoplegia, contractures; CPK normal; IHC alphaDG; histology non-specific	-	-	Familial, autosomal dominant	12y	-	-	-	-	Sandra Cooper	00054675
0000041357	infantile hypotonia and weakness, mild facial weakness, ptosis, contractures, dilated cardiomyopathy in 20s; CPK normal; histology dystrophic	-	-	Familial, autosomal recessive	44y	-	-	-	-	Sandra Cooper	00054678
0000041358	progressive weakness with loss of ambulation age 10y, facial weakness, ptosis, contractures, tachyarrhythmia requiring pacemaker, restrictive lung disease ; CPK mild elevation (650-900); histology dystrophic	-	-	Familial, autosomal dominant	21y	-	18m	-	-	Sandra Cooper	00054679
0000041359	infantile hypotonia and weakness, arthrogryposis, congenital humeral and clavicle fracture, gross motor delay, walked age 6y, mild facial weakness, distal laxity, contractures, scoliosis, mild learning difficulties; CPK normal; IHC COLVI; histology dystrophic	-	-	Familial, autosomal recessive	17y	-	-	-	-	Sandra Cooper	00054680
0000041361	gross motor delay, walked age 2y11m, facial weakness, distal laxity, contractures, scoliosis, rigid spine, dilated cardiomyopathy, restrictive lung disease; CPK normal; histology dystrophic	-	-	Familial, autosomal recessive	11y	-	00y06m	-	-	Sandra Cooper	00054682
0000041362	infantile hypotonia, gross motor delay, MRI - white matter abnormalities; CPK elevated); IHC alphaDG; histology dystrophic	-	-	Familial, autosomal recessive	9y	-	-	-	-	Sandra Cooper	00054683
0000041363	walked age 22mo, contractures, hepatosplenomegaly, moderate intellectual disability; CPK elevated (4000-9000); IHC alphaDG; histology dystrophic	-	-	Familial, autosomal recessive	8y	-	18m	-	-	Sandra Cooper	00054684
0000041364	gross motor delay, walked age 2.5y, proximal weakness, choreiform movements, moderate intellectual disability, MRI - T2 hyperintensities; CPK elevated (600-3100); histology non-specific	-	-	Familial, autosomal recessive	8y	-	1y	-	-	Sandra Cooper	00054685
0000041365	congenital hip dislocation, gross motor delay, unable to walk, mild facial weakness, mild scoliosis; CPK normal; histology dystrophic	-	-	Familial, autosomal dominant	6y	-	3m	-	-	Sandra Cooper	00054686
0000041366	infantile hypotonia, gross motor delay, stood with support age 3y,macrocephaly, moderate obstructive sleep apnoea; CPK mild elevation (884-930); histology dystrophic	-	-	Familial, autosomal dominant	6y	-	-	-	-	Sandra Cooper	00054687
0000041368	infantile hypotonia, gross motor delay, walked age 2y9mo, facial weakness, hypermobility, distal laxity, obstructive sleep apnoea; CPK normal; IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	3y	-	-	-	-	Sandra Cooper	00054689
0000041369	infantile hypotonia, gross motor delay, walked age 4y, contractures, prominent neck flexor weakness; CPK elevated (799-2470)	-	-	Familial, autosomal dominant	4y	-	-	-	-	Sandra Cooper	00054690
0000041371	gross motor delay, walked age 3.5y, hypermobility, distal laxity; CPK elevated (926-1310)	-	-	Familial, autosomal dominant	3y	-	1y	-	-	Sandra Cooper	00054692
0000041373	infantile hypotonia, congenital femur fracture, walked age 2 years, progression with wheelchair dependency by 12y, distal laxity, hyperkeratosis pilaris, restrictive lung disease; CPK mild elevation (282); histology dystrophic	-	-	Familial, autosomal dominant	23y	-	-	-	IHC COLVI;	Shireen Lamandé	00054694
0000041374	never walked, contractures, distal laxity; CPK normal; IHC COLVI; histology non-specific	-	-	Familial, autosomal dominant	21y	-	6m	-	-	Sandra Cooper	00054695
0000041375	weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic	-	-	Isolated (sporadic)	15y	-	18m	-	-	Shireen Lamandé	00054696
0000041376	proximal weakness, distal laxity, round face, prominent heels and hyperkeratosis pilaris; CPK mild elevation (395); IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	14y	-	23m	-	-	Shireen Lamandé	00054697
0000041377	congenital hip dislocation, proximal weakness, distal laxity, contractures; CPK mild elevation (475); IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	14y	-	2y	-	-	Shireen Lamandé	00054698
0000041378	infantile hypotonia, congenital hip dislocation, gross motor delay, mild facial weakness, distal laxity, scoliosis, hyperkeratosis pilaris, long finger flexor contractures; CPK normal; IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	18y	-	-	-	-	Shireen Lamandé	00054699
0000041379	infantile hypotonia, arthrogryposis, congenital femur fracture and hip dislocation, gross motor delay, walked age 2 years, mild facial weakness, contractures, distal laxity, hyperkeratosis pilaris, restrictive lung disease ; CPK mild elevation (378); IHC COLVI; histology dystrophic	-	-	Familial, autosomal recessive	12y	-	-	-	-	Shireen Lamandé	00054700
0000041380	infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic	-	-	Familial, autosomal recessive	12y	-	-	-	-	Shireen Lamandé	00054701
0000041381	infantile hypotonia, arthrogryposis, congenital hip dislocation, gross motor delay, walked with support at 3 years, mild facial weakness, ptosis, contractures, mild scoliosis; CPK normal; IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	10y	-	-	-	-	Shireen Lamandé	00054702
0000041382	generalised weakness, mild facial weakness, hypermobility and distal laxity, contractures, hyperkeratosis pilaris; CPK mild elevation (375-603); IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	22y	-	6m	-	-	Shireen Lamandé	00054703
0000041383	gross motor delay, hypermobility, distal laxity, contractures, malar flush, restrictive lung disease; CPK mild elevation (245); IHC COLVI; histology dystrophic	-	-	Familial, autosomal recessive	12y	-	6m	-	-	Shireen Lamandé	00054704
0000041384	infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	9y	-	-	-	-	Shireen Lamandé	00054705
0000041385	infantile hypotonia, congenital hip dislocation, talipes equinovarus, proximal weakness, hypermobility, distal laxity, mild scoliosis, hyperkeratosis pilaris; CPK mild elevation (343-405); IHC COLVI; histology dystrophic	-	-	Familial, autosomal recessive	14y	-	-	-	-	Shireen Lamandé	00054706
0000041386	infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	11y	-	-	-	-	Shireen Lamandé	00054707
0000041387	infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic	-	-	Familial, autosomal dominant	5y	-	-	-	-	Shireen Lamandé	00054708
0000041388	infantile hypotonia, gross motor delay, non-ambulant, distal laxity, contractures, scoliosis, hyperkeratosis; CPK mild elevation (415)	-	-	Familial, autosomal dominant	9y	-	-	-	-	Shireen Lamandé	00054709
0000043163	no prenatal findings; mild intellectual delay; cataracts; strabismus; ptosis; long QT syndrome; brain MRI no structural abnormality; CPK 7,323 max U/l; max motor ability w3.5y	-	-	Isolated (sporadic)	-	-	14d	increased tone, then hypotonia; microcephaly; cataracts; torticollis; ileal atresia	-	Johan den Dunnen	00056475
0000043164	decreased fetal movement; mild intellectual delay; cataracts; strabismus; intermittent nystagmus; ptosis; left ventricular dilatation; brain MRI no structural abnormality; max motor ability w3y	-	-	Isolated (sporadic)	-	-	0d	hypotonia, feeding difficulties	-	Johan den Dunnen	00056476
0000043165	dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; strabismus; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 630 max U/l; max motor ability unable to sit	-	-	Isolated (sporadic)	-	-	4m	poor head control	-	Johan den Dunnen	00056477
0000043166	dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; no ophthalmologic findings; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 720 max U/l; max motor ability s2y	-	-	Isolated (sporadic)	-	-	4m	poor head control	-	Johan den Dunnen	00056478
0000043170	congenital cataracts, motor delays	-	-	Familial, autosomal recessive	-	-	-	-	-	Tom Winder	00056482
0000043171	cognitive impairment, seizures, weakness; CPK elevated	-	-	Familial, autosomal recessive	-	-	-	-	-	Tom Winder	00056483
0000043172	seizures, mild MR	-	-	Familial, autosomal recessive	-	-	-	-	-	Tom Winder	00056484
0000043173	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Tom Winder	00056485
0000043174	dystroglycanopathy with MR and seizures; normal eyes.	-	-	Familial, autosomal recessive	-	-	-	-	-	Tom Winder	00056486
0000043175	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Tom Winder	00056487
0000082424	Rigid spine; CPK 222-1930	-	-	Familial, autosomal recessive	-	-	-	-	-	Nigel Clarke	00104492
0000084289	rigid spine, no intellectual disability; CPK: 1930IU/L	-	-	Familial, autosomal recessive	-	-	<2y	-	-	Nigel Clarke	00106485
0000084291	dystrophy, muscular, limb-girdle (LGMD); late onset; patient 66 y old	-	-	Unknown	-	-	-	-	-	Kristen Nowak	00106487
0000086219	LGMD-AD, infantile onset 6 patients	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00108746
0000086338	-	-	-	Familial	-	-	-	-	-	Tom Winder	00108865
0000086367	-	-	-	Unknown	-	-	-	-	-	Tom Winder	00108894
0000086887	histopathology showed fiber type disproportion; CPK normal	-	-	Isolated (sporadic)	-	-	-	-	IHC mildly reduced COLVI staining	Jaya Punetha	00109414
0000087465	CK elevation (2600-5400 U/l), proximal muscle weakness (shoulder, no free standing), no mental retardation, no other affected family members	-	-	Familial, autosomal recessive	01y	-	00y	-	-	Andreas Laner	00111380
0000108350	-	dystrophy, muscular, congenital	-	Familial	-	-	-	-	no	Johan den Dunnen	00135601
0000108479	-	dystrophy, muscular, congenital	-	Familial	-	-	-	-	no	Johan den Dunnen	00135730
0000108899	-	dystrophy, muscular, congenital	dystrophy, muscular, congenital, type 3B (CMD-3B)	Unknown	-	-	-	-	-	Johan den Dunnen	00136150
0000111246	severe progressive muscle weakness; floppy as newborn, delayed motor milestones; loss ability to walk (HP:0006957) 4y	dystrophy, muscular, congenital (CMD)	-	Unknown	-	-	00y00m00d	floppy	IHC DMD at sarcolemma, no UTRN	Svetlana Gorokhova	00138498
0000111349	-	dystrophy, muscular, congenital	dystrophy, muscular, congenital, type 3B (CMD-3B)	Familial	-	-	-	-	WB heart no DMD	Johan den Dunnen	00138601
0000119590	cerebellar cysts on MRI; IQ 50	MDC-1C;MR	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00146602
0000119591	severe, microcephaly, incl. MR, MRI white matter changes, cerebellar cysts; never walked; intellectual disability; CPK 1370	dystrophy, muscular, congenital	MDC-1C	Isolated (sporadic)	-	-	0y	-	IHC LAMA2 reduced	Johan den Dunnen	00146613
0000119592	never walked; CPK 2478	dystrophy, muscular, congenital	MDC-1C	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00146618
0000119593	incl. severe psychomotor retardation, mental retardation and white matter changes and/or cerebellar structural abnormalities on MRI; all intellectual disability; CPK 4400 / ..	dystrophy, muscular, congenital	MDC-1C	Familial	-	-	0y	-	-	Johan den Dunnen	00146619
0000119594	severe	dystrophy, muscular, congenital	MDC-1C	Isolated (sporadic)	-	-	0y	-	-	Johan den Dunnen	00146620
0000119595	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Johan den Dunnen	00146621
0000119596	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146623
0000119597	lost ambulation 6y; CPK 7760	dystrophy, muscular, congenital	MDC-1C	Isolated (sporadic)	-	-	<1y	-	LAMA2 reduced/absent (80/300), DAG1 virtually absent, DMD and SGCs normal	Johan den Dunnen	00146625
0000119598	IQ 67	dystrophy, muscular, congenital	MDC-1C	Isolated (sporadic)	-	-	2m	-	LAMA2 reduced/absent (80/300)	Johan den Dunnen	00146664
0000119599	cerebellar cysts on MRI; IQ 56	MDC-1C;MR	-	Unknown	-	-	-	-	-	Johan den Dunnen	00146666
0000119600	never walked; normal intelligence; CPK 9000-14550	dystrophy, muscular, congenital	MDC-1C	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00146678
0000119601	lost ambulation 6y; normal intelligence; CPK 2695	dystrophy, muscular, congenital	MDC-1C	Familial	-	-	-	-	-	Johan den Dunnen	00146679
0000119602	lost ambulation 7y	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	LAMA2 reduced (80)	Johan den Dunnen	00146680
0000119603	lost ambulation 12y	dystrophy, muscular, congenital	MDC-1C	Familial	-	-	3y	-	-	Johan den Dunnen	00146681
0000119604	lost ambulation 6y; normal intelligence; CPK 6429	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	1y	-	-	Johan den Dunnen	00146705
0000119605	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	phenotype: cerebellar cysts, focal nodular heterotopia	-	Johan den Dunnen	00146711
0000119606	cerebellar cysts, cerebellar dysplasia, pons hypoplasia	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Johan den Dunnen	00146733
0000119607	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	<6m	-	-	Johan den Dunnen	00146735
0000119608	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146739
0000119609	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146745
0000119610	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146823
0000119611	walks 6y	dystrophy, muscular, congenital	-	Familial, autosomal recessive	-	-	-	-	-	Wolfram Kress	00146848
0000119612	-	dystrophy, muscular, congenital	-	Unknown	-	-	-	-	-	Tom Winder	00146853
0000119613	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146854
0000119614	teenage years progressive weakness, loss of ambulation, severe scoliosis; 35y myopathic facies, dysarthria, tongue/calf hypertrophy; lost ambulation; normal intelligence; CPK 4100 U/l	dystrophy, muscular, congenital	-	Unknown	-	-	-	-	IHC severely reduced glycosylated DAG1; WB no DAG1, LAMA2 reduced	Johan den Dunnen	00146979
0000119615	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146980
0000119616	CPK 11,000	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	-	Tom Winder	00146982
0000119617	-	dystrophy, muscular, congenital	MDC-1C	Unknown	-	-	-	-	DAG1 reduced	Tom Winder	00146983
0000119618	-	dystrophy, muscular, congenital	-	Unknown	-	-	-	-	-	Tom Winder	00146994
0000119619	-	dystrophy, muscular, congenital	-	Unknown	-	-	-	-	-	Tom Winder	00146995

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Global Variome shared LOVD