Autosomal recessive limb-girdle muscular dystrophy type 2M
|
(Orphanet:206554)
|
Cardiomyopathy, familial hypertrophic, 11
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(OMIM:612098)
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Cardiomyopathy, familial hypertrophic, 4
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(OMIM:115197)
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Cardiomyopathy, familial hypertrophic, 6
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(OMIM:600858)
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Cardiomyopathy, familial hypertrophic, 7
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(OMIM:613690)
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Cardiomyopathy, hypertrophic, 25
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(OMIM:607487)
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Combined oxidative phosphorylation defect type 15
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(Orphanet:319524)
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Glycogen storage disease due to LAMP-2 deficiency
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(Orphanet:34587)
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Glycogen storage disease due to acid maltase deficiency
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(Orphanet:365)
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Glycogen storage disease due to acid maltase deficiency, late-onset
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(Orphanet:420429)
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Histiocytoid cardiomyopathy
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(Orphanet:137675)
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Hypotonia with lactic acidemia and hyperammonemia
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(Orphanet:137908)
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Leber hereditary optic neuropathy
|
(Orphanet:104)
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MELAS
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(Orphanet:550)
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MERRF
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(Orphanet:551)
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Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
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(Orphanet:1194)
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Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
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(Orphanet:314637)
|
Noonan syndrome with multiple lentigines
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(Orphanet:500)
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TUBEROUS SCLEROSIS 2
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(OMIM:613254)
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Tuberous sclerosis
|
(Orphanet:805)
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WOLFF-PARKINSON-WHITE SYNDROME
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(OMIM:194200)
|