Arrhythmia

Symptom Information:

Symptom ID: HPO:0011675
Synonyms:
Abnormal electrocardiogram [HPO:0011675]
Abnormality of cardiac conduction [HPO:0011675]
Arrhythmias [HPO:0011675]
Cardiac arrhythmia [HPO:0011675]
Cardiac arrhythmias [HPO:0011675]
Cardiac conduction abnormalities [HPO:0011675]
Cardiac conduction defects [HPO:0011675]
Cardiac rhythm disturbances [HPO:0011675]
ECG abnormality [HPO:0011675]
Ekg abnormalities [HPO:0011675]
EKG abnormality [HPO:0011675]
Electrocardiographic changes [HPO:0011675]
Heart rhythm disorders [HPO:0011675]
Irregular heart beat [HPO:0011675]
Irregular heartbeat [HPO:0011675]
Heart block [Orphanet:35060]
Cardiac rhythm disorder [Orphanet:35030]
Heart block (disorder) [Orphanet:35060]
Disorder of heart rhythm [Orphanet:35060]
Disorder of heart rhythm [Orphanet:35030]
Irregular heart beat (finding) [Orphanet:35030]
Irregular heart rate (finding) [Orphanet:35030]
Heart Block [Orphanet:35060]
Conduction disorder of the heart [Orphanet:35060]
Cardiac Arrhythmia [Orphanet:35030]
Irregular heart beat [Orphanet:35030]
Abnormal electrocardiogram [OMIM:Abnormal electrocardiogram]
Arrhythmia [OMIM:Arrhythmia]
Arrhythmias [OMIM:Arrhythmias]
Cardiac arrhythmia [OMIM:Cardiac arrhythmia]
Cardiac arrhythmias [OMIM:Cardiac arrhythmias]
Cardiac conduction abnormalities [OMIM:Cardiac conduction abnormalities]
Cardiac conduction defects [OMIM:Cardiac conduction defects]
Cardiac rhythm disturbances [OMIM:Cardiac rhythm disturbances]
EKG abnormalities [OMIM:EKG abnormalities]
Electrocardiographic changes [OMIM:Electrocardiographic changes]
Irregular heart beat [OMIM:Irregular heart beat]
Irregular heartbeat [OMIM:Irregular heartbeat]
Cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block [Orphanet:35060]
Cardiac rhythm disorder/arrhythmia [Orphanet:35030]
Heart block NOS [Orphanet:35060]
Conduction disorder [Orphanet:35060]
Arrhythmia [Orphanet:35030]
Heart rate irregular [Orphanet:35030]
Atrioventricular block [MedDRA:10003671]
Atrioventricular block (NOS) [MedDRA:10003671]
Atrioventricular block incomplete [MedDRA:10003671]
Atrioventricular block NOS [MedDRA:10003671]
Atrioventricular block, other and unspecified [MedDRA:10003671]
Atrioventricular block, unspecified [MedDRA:10003671]
AV block [MedDRA:10003671]
AV block (NOS) [MedDRA:10003671]
Block heart [MedDRA:10003671]
Block incomplete [MedDRA:10003671]
Heart block [MedDRA:10003671]
Heart block atrioventricular [MedDRA:10003671]
Heart block AV [MedDRA:10003671]
Heart block NOS [MedDRA:10003671]
Nodal block [MedDRA:10003671]
Other heart block [MedDRA:10003671]
Heart block (NOS) [MedDRA:10003671]
Conduction disorder [MedDRA:10010276]
Conduction delayed transient [MedDRA:10010276]
Conduction disorder NOS [MedDRA:10010276]
Conduction disorder, unspecified [MedDRA:10010276]
Conduction disorders [MedDRA:10010276]
Defect conduction (NOS) [MedDRA:10010276]
Other specified conduction disorder [MedDRA:10010276]
Other specified conduction disorders [MedDRA:10010276]
Arrhythmia [MedDRA:10003119]
Arrhythmia (NOS) [MedDRA:10003119]
Arrhythmia cardiac (NOS) [MedDRA:10003119]
Arrhythmia NOS [MedDRA:10003119]
Cardiac arrhythmia [MedDRA:10003119]
Cardiac arrhythmia (NOS) [MedDRA:10003119]
Cardiac arrhythmia NOS [MedDRA:10003119]
Cardiac dysrhythmia, unspecified [MedDRA:10003119]
Cardiac dysrhythmias [MedDRA:10003119]
Dysrhythmias [MedDRA:10003119]
Other specified cardiac dysrhythmia [MedDRA:10003119]
Other specified cardiac dysrhythmias [MedDRA:10003119]
Proarrhythmia [MedDRA:10003119]
Proarrhythmic effect [MedDRA:10003119]
Cardiac compensatory pause [MedDRA:10003119]
Arrhythmia exertional [MedDRA:10003119]
Heart rate irregular [MedDRA:10019304]
Heart irregular [MedDRA:10019304]
Heartbeats irregular [MedDRA:10019304]
Irregular pulse [MedDRA:10019304]
Pulse irregular [MedDRA:10019304]
Pulse irregularity NOS [MedDRA:10019304]
Arrhythmia (uncommon) [OMIM:Arrhythmia (uncommon)]
Arrhythmias (1 patient) [OMIM:Arrhythmias (1 patient)]
Arrhythmias (in 1 patient) [OMIM:Arrhythmias (in 1 patient)]
Arrhythmias (in some patients) [OMIM:Arrhythmias (in some patients)]
Arrhythmias (in some) [OMIM:Arrhythmias (in some)]
Arrhythmias (less common) [OMIM:Arrhythmias (less common)]
Cardiac arrhythmias (in some patients) [OMIM:Cardiac arrhythmias (in some patients)]
Conduction defects [OMIM:Conduction defects]
Conduction defects (in some patients) [OMIM:Conduction defects (in some patients)]
Dysrhythmias [OMIM:Dysrhythmias]
Sinoatrial block [MedDRA:10040736]
Sinoatrial nodal block [Orphanet:35060]
Sinoatrial block (disorder) [Orphanet:35060]
Sinoatrial Block [Orphanet:35060]
Nodal block [Orphanet:35060]
Sinoatrial block [OMIM:Sinoatrial block]
Cardiac arrhythmias [MedDRA:10007521]
Electrocardiogram abnormal [MedDRA:10014363]
Quality:
Cross references:
HPO:0001678 "Atrioventricular block" [Orphanet:35060]
Orphanet:35060 "Cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block" [Orphanet:35060]
Orphanet:35030 "Cardiac rhythm disorder/arrhythmia" [Orphanet:35030]
OMIM: "Abnormal electrocardiogram" [OMIM:Abnormal electrocardiogram]
OMIM: "Arrhythmia" [OMIM:Arrhythmia]
OMIM: "Arrhythmias" [OMIM:Arrhythmias]
OMIM: "Cardiac arrhythmia" [OMIM:Cardiac arrhythmia]
OMIM: "Cardiac arrhythmias" [OMIM:Cardiac arrhythmias]
OMIM: "Cardiac conduction abnormalities" [OMIM:Cardiac conduction abnormalities]
OMIM: "Cardiac conduction defects" [OMIM:Cardiac conduction defects]
OMIM: "Cardiac rhythm disturbances" [OMIM:Cardiac rhythm disturbances]
OMIM: "EKG abnormalities" [OMIM:EKG abnormalities]
OMIM: "Electrocardiographic changes" [OMIM:Electrocardiographic changes]
OMIM: "Irregular heart beat" [OMIM:Irregular heart beat]
OMIM: "Irregular heartbeat" [OMIM:Irregular heartbeat]
OMIM: "Arrhythmia (uncommon)" [OMIM:Arrhythmia (uncommon)]
OMIM: "Arrhythmias (1 patient)" [OMIM:Arrhythmias (1 patient)]
OMIM: "Arrhythmias (in 1 patient)" [OMIM:Arrhythmias (in 1 patient)]
OMIM: "Arrhythmias (in some patients)" [OMIM:Arrhythmias (in some patients)]
OMIM: "Arrhythmias (in some)" [OMIM:Arrhythmias (in some)]
OMIM: "Arrhythmias (less common)" [OMIM:Arrhythmias (less common)]
OMIM: "Cardiac arrhythmias (in some patients)" [OMIM:Cardiac arrhythmias (in some patients)]
OMIM: "Conduction defects" [OMIM:Conduction defects]
OMIM: "Conduction defects (in some patients)" [OMIM:Conduction defects (in some patients)]
OMIM: "Dysrhythmias" [OMIM:Dysrhythmias]
OMIM: "Sinoatrial block" [OMIM:Sinoatrial block]
UMLS:C0018794 "Heart Block" [Orphanet:35060]
UMLS:C0264886 "Conduction disorder of the heart" [Orphanet:35060]
UMLS:C0003811 "Cardiac Arrhythmia" [Orphanet:35030]
UMLS:C0237314 "Irregular heart beat" [Orphanet:35030]
UMLS:C0037188 "Sinoatrial Block" [Orphanet:35060]
UMLS:C0857153 "Nodal block" [Orphanet:35060]
Is a (Direct Parents):
HPO         Heart block
Orphanet Abnormality of cardiovascular system physiology
MedDRA ECG investigations
MedDRA Cardiac disorders
HPO         Abnormality of cardiovascular system physiology
Orphanet Atrioventricular block
MedDRA Cardiac conduction disorders
MedDRA Rate and rhythm disorders NEC
MedDRA Heart rate and pulse investigations
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormality of cardiovascular system physiology(HPO:0011025)
             Arrhythmia(HPO:0011675)
MedDRA:
Cardiac disorders(MedDRA:10007541)
    Arrhythmia(HPO:0011675)
Investigations(MedDRA:10022891)
    Cardiac and vascular investigations (excl enzyme tests)(MedDRA:10007512)
       Heart rate and pulse investigations(MedDRA:10053103)
          Arrhythmia(HPO:0011675)
       ECG investigations(MedDRA:10053104)
          Arrhythmia(HPO:0011675)
Database Frequency: 226 / 7739
Resource:

All diseases associated with this symptom:

16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
19p13.12 microdeletion syndrome (Orphanet:254346)
2q37 microdeletion syndrome (Orphanet:1001)
AL amyloidosis (Orphanet:85443)
ATRIAL FIBRILLATION, FAMILIAL, 1 (OMIM:608583)
ATTRV122I amyloidosis (Orphanet:85451)
Acute intermittent porphyria (Orphanet:79276)
Adult heart tumor (Orphanet:874)
Aggressive systemic mastocytosis (Orphanet:98850)
Ataxia with vitamin E deficiency (Orphanet:96)
Atrial fibrillation, familial, 3 (OMIM:607554)
Atypical Rett syndrome (Orphanet:3095)
Autoimmune hemolytic anemia (Orphanet:98375)
Autoimmune hemolytic anemia, warm type (Orphanet:90033)
Autosomal dominant Emery-Dreifuss muscular dystrophy (Orphanet:98853)
Autosomal dominant hypocalcemia (Orphanet:428)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive limb-girdle muscular dystrophy type 2B (Orphanet:268)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Barth syndrome (Orphanet:111)
Becker muscular dystrophy (Orphanet:98895)
Beta-thalassemia major (Orphanet:231214)
Blackfan-Diamond anemia (Orphanet:124)
Botulism (Orphanet:1267)
Brachydactyly-long thumb syndrome (Orphanet:2946)
Brugada syndrome (Orphanet:130)
CANDLE syndrome (Orphanet:325004)
CARDIAC ARRHYTHMIA (OMIM:115000)
CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED (OMIM:115080)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
CREST syndrome (Orphanet:90290)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiomyopathy, dilated, 1E (OMIM:601154)
Cardiomyopathy, dilated, with woolly hair, keratoderma, and toothagenesis (OMIM:615821)
Cardiomyopathy, familial hypertrophic, 1 (OMIM:192600)
Cardiomyopathy, familial hypertrophic, 11 (OMIM:612098)
Cardiomyopathy, familial hypertrophic, 14 (OMIM:613251)
Cardiomyopathy, familial hypertrophic, 21 (OMIM:614676)
Cardiomyopathy, familial hypertrophic, 6 (OMIM:600858)
Cardiomyopathy-cataract-hip spine disease (Orphanet:1345)
Carney triad (Orphanet:139411)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine palmitoyl transferase II deficiency (Orphanet:157)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305)
Carnitine uptake deficiency (Orphanet:158)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286)
Cockayne syndrome (Orphanet:191)
Combined oxidative phosphorylation deficiency type 23 (ORPHA:444013)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Costello syndrome (Orphanet:3071)
Cutaneous mastocytosis (Orphanet:66646)
DK1-CDG (Orphanet:91131)
DYSTONIA 23 (OMIM:614860)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Dermatomyositis (Orphanet:221)
Desminopathy (Orphanet:98909)
Diffuse cutaneous systemic sclerosis (Orphanet:220393)
Drug-induced autoimmune hemolytic anemia (Orphanet:90037)
Duchenne muscular dystrophy (Orphanet:98896)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Ebstein malformation (Orphanet:1880)
Ehlers-Danlos syndrome due to tenascin-X deficiency (Orphanet:230839)
Ehlers-Danlos syndrome, hypermobility type (Orphanet:285)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Eosinophilic granulomatosis with polyangiitis (Orphanet:183)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
Fabry disease (Orphanet:324)
Familial Mediterranean fever (Orphanet:342)
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751)
Familial dysautonomia (Orphanet:1764)
Familial isolated dilated cardiomyopathy (Orphanet:154)
Familial isolated hypoparathyroidism (Orphanet:2238)
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (Orphanet:2239)
Familial long QT syndrome (Orphanet:768)
Familial multiple nevi flammei (Orphanet:624)
Familial progressive cardiac conduction defect (Orphanet:871)
Foodborne botulism (Orphanet:228371)
Friedreich ataxia 1 (OMIM:229300)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Giant cell arteritis (Orphanet:397)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Granulomatosis with polyangiitis (Orphanet:900)
Heart tumor of the child (Orphanet:875)
Heart-hand syndrome type 2 (Orphanet:1350)
Heart-hand syndrome type 3 (Orphanet:1342)
Hemochromatosis type 4 (Orphanet:139491)
Hemochromatosis, type 1 (OMIM:235200)
Hemochromatosis, type 2A (OMIM:602390)
Hemorrhagic fever - renal syndrome (Orphanet:340)
Hidrotic ectodermal dysplasia, Christianson-Fourie type (Orphanet:1808)
Hirschsprung disease - ganglioneuroblastoma (Orphanet:2151)
His bundle tachycardia (Orphanet:3283)
Histiocytoid cardiomyopathy (Orphanet:137675)
Holoprosencephaly (Orphanet:2162)
Holt-Oram syndrome (Orphanet:392)
Hurler syndrome (Orphanet:93473)
Hyperkalemic periodic paralysis (Orphanet:682)
Hypertelorism, Teebi type (Orphanet:1519)
Hypoalphalipoproteinemia (Orphanet:31153)
Infantile Refsum disease (Orphanet:772)
JMP syndrome (Orphanet:324999)
Juvenile dermatomyositis (Orphanet:93672)
Kawasaki disease (Orphanet:2331)
Kearns-Sayre syndrome (Orphanet:480)
King-Denborough syndrome (Orphanet:99741)
Kleefstra syndrome (Orphanet:261494)
Leber hereditary optic neuropathy (Orphanet:104)
Leber plus disease (Orphanet:99718)
Left ventricular noncompaction 8 (OMIM:615373)
Legionellosis (Orphanet:549)
Leigh syndrome (Orphanet:506)
Lethal Kniest-like dysplasia (Orphanet:2347)
Liddle syndrome (Orphanet:526)
Limited cutaneous systemic sclerosis (Orphanet:220402)
Limited systemic sclerosis (Orphanet:220407)
Long QT syndrome 10 (OMIM:611819)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5)
Lyme disease (Orphanet:91546)
Lymphedema - distichiasis (Orphanet:33001)
MELAS (Orphanet:550)
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK (OMIM:609438)
MERRF (Orphanet:551)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL (OMIM:310095)
Mastocytosis (Orphanet:98292)
Maternally-inherited diabetes and deafness (Orphanet:225)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microscopic polyangiitis (Orphanet:727)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Mixed-type autoimmune hemolytic anemia (Orphanet:90036)
Multifocal atrial tachycardia (Orphanet:3282)
Multifocal muscular fibrosis - obstructed vessels (Orphanet:2033)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nathalie syndrome (Orphanet:2663)
Naxos disease (Orphanet:34217)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Oculodentodigital dysplasia (Orphanet:2710)
Odontotrichomelic syndrome (Orphanet:2723)
PAGOD syndrome (Orphanet:991)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Patent arterial duct (Orphanet:706)
Peripartum cardiomyopathy (Orphanet:563)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Polyarteritis nodosa (Orphanet:767)
Polymyositis (Orphanet:732)
Polyneuropathy - intellectual deficit - acromicria - premature menopause (Orphanet:2928)
Polyvalvular heart disease syndrome (Orphanet:228410)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Primary hyperoxaluria type 1 (Orphanet:93598)
Primary systemic amyloidosis (Orphanet:314701)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Propionic acidemia (Orphanet:35)
Proteasome disability syndrome (Orphanet:324977)
Proximal myotonic myopathy (Orphanet:606)
Pulmonary arterial hypertension (Orphanet:182090)
Refsum disease (Orphanet:773)
Relapsing polychondritis (Orphanet:728)
Rett syndrome (Orphanet:778)
Rheumatic fever (Orphanet:3099)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Sarcoidosis (Orphanet:797)
Schwartz-Jampel syndrome (Orphanet:800)
Scleroderma (Orphanet:801)
Senile systemic amyloidosis (Orphanet:330001)
Sick sinus syndrome 1, autosomal recessive (OMIM:608567)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Sinus node disease and myopia (OMIM:182190)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spontaneous periodic hypothermia (Orphanet:29822)
Steinert myotonic dystrophy (Orphanet:273)
Stickler syndrome (Orphanet:828)
Subaortic stenosis - short stature (Orphanet:3191)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
Supravalvular aortic stenosis (Orphanet:3193)
Systemic capillary leak syndrome (Orphanet:188)
Systemic mastocytosis (Orphanet:2467)
Systemic sclerosis (Orphanet:90291)
Tako-Tsubo cardiomyopathy (Orphanet:66529)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Tuberous sclerosis (Orphanet:805)
Typhoid (Orphanet:99745)
Uhl anomaly (Orphanet:3403)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)
Von Hippel-Lindau disease (Orphanet:892)
Wilson disease (Orphanet:905)
Wiskott-Aldrich syndrome (Orphanet:906)
Woodhouse-Sakati syndrome (Orphanet:3464)
Woolly hair - hypotrichosis - everted lower lip - outstanding ears (Orphanet:1409)
X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863)
X-linked myopathy with postural muscle atrophy (Orphanet:178461)
Yellow fever (Orphanet:99829)
[DEL] COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)
[DEL] LEBER OPTIC ATROPHY (OMIM:535000)
[DEL] MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)