ATRIAL SEPTAL DEFECT 6
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(OMIM:613087)
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Arthrogryposis multiplex congenita - whistling face
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(Orphanet:1150)
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Atrial fibrillation, familial, 10
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(OMIM:614022)
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Atrial fibrillation, familial, 3
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(OMIM:607554)
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Atrial standstill
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(Orphanet:1344)
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Atrial standstill 1
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(OMIM:108770)
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Atrial standstill 2
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(OMIM:615745)
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Autosomal dominant limb-girdle muscular dystrophy type 1B
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(Orphanet:264)
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COENZYME Q10 DEFICIENCY, PRIMARY, 7
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(OMIM:616276)
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CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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(OMIM:614437)
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Carnitine-acylcarnitine translocase deficiency
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(Orphanet:159)
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Chronic atrial and intestinal dysrhythmia syndrome
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(Orphanet:435988)
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Congenital brain dysgenesis due to glutamine synthetase deficiency
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(Orphanet:71278)
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Congenital heart block
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(Orphanet:60041)
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DK1-CDG
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(Orphanet:91131)
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EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
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(OMIM:614302)
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Fabry disease
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(Orphanet:324)
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Familial long QT syndrome
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(Orphanet:768)
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Generalized congenital lipodystrophy with myopathy
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(Orphanet:228429)
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Hereditary sensory and autonomic neuropathy type 6
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(Orphanet:314381)
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Hidrotic ectodermal dysplasia, Christianson-Fourie type
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(Orphanet:1808)
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Hypermethioninemia encephalopathy due to adenosine kinase deficiency
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(Orphanet:289290)
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Leprechaunism
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(Orphanet:508)
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Long QT syndrome 10
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(OMIM:611819)
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Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
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(Orphanet:329332)
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Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
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(Orphanet:457185)
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PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3
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(OMIM:609286)
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PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
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(OMIM:604559)
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Paroxysmal extreme pain disorder
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(Orphanet:46348)
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Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
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(Orphanet:88618)
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Pyruvate dehydrogenase E3-binding protein deficiency
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(Orphanet:255182)
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RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
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(OMIM:614498)
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Reticular dysgenesis
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(Orphanet:33355)
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Romano-Ward syndrome
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(Orphanet:101016)
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Sino-auricular heart block
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(Orphanet:1260)
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Sinoatrial node dysfunction and deafness
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(Orphanet:324321)
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Sudden infant death - dysgenesis of the testes
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(Orphanet:168593)
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Thyroid ectopia
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(Orphanet:95712)
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Thyroid hemiagenesis
|
(Orphanet:95719)
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Timothy syndrome
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(Orphanet:65283)
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X-linked Emery-Dreifuss muscular dystrophy
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(Orphanet:98863)
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