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Familial isolated dilated cardiomyopathy
39 OMIM references -
38 associated genes
556 connected diseases
13 signs/symptoms
Disease Type of connection
Left ventricular noncompaction
Familial isolated restrictive cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Early-onset autosomal dominant Alzheimer disease
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Familial sick sinus syndrome
Zonular cataract
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Romano-Ward syndrome
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Posterior polar cataract
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2G
ZASP-related myofibrillar myopathy
Muscular dystrophy, Selcen type
1p36 deletion syndrome
Becker muscular dystrophy
Duchenne muscular dystrophy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Desminopathy
Scapuloperoneal amyotrophy
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome with leukodystrophy
Acromegaloid facial appearance syndrome
Atrial stand still
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2M
Barth syndrome
Brugada syndrome
Classic multiminicore myopathy
Congenital muscular dystrophy without intellectual disability
DK1-CDG
Ebstein malformation
Familial progressive cardiac conduction defect
Gastrointestinal stromal tumor
Hyaline body myopathy
Hypertrichotic osteochondrodysplasia, Cantu type
Idiopathic ventricular fibrillation, not Brugada type
Isolated succinate-CoQ reductase deficiency
Laing distal myopathy
Muscle-eye-brain disease
Walker-Warburg syndrome
Amyotrophic lateral sclerosis
Typical nemaline myopathy
Childhood-onset nemaline myopathy
Autosomal dominant nonsyndromic intellectual deficit
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Congenital fiber-type disproportion myopathy
Familial thoracic aortic aneurysm and aortic dissection
Distal hereditary motor neuropathy type 2
Desmoid tumor
Young adult-onset Parkinsonism
Familial pancreatic carcinoma
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Nuclear cataract
Craniopharyngioma
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Cataract-microcornea syndrome
Lethal acantholytic epidermolysis bullosa
Congenital analbuminemia
B-cell chronic lymphocytic leukemia
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant macrothrombocytopenia
Inflammatory myofibroblastic tumor
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Congenital myopathy with excess of thin filaments
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Burkitt lymphoma
Reducing body myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Gliosarcoma
Estrogen resistance syndrome
Coppock-like cataract
Familial gastric cancer
Gastric linitis plastica
Autosomal dominant hypohidrotic ectodermal dysplasia
Cataract with Y-shaped suture opacities
Baraitser-Winter syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Digitotalar dysmorphism
Cerulean cataract
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Naxos disease
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Follicular lymphoma
Intravascular large B-cell lymphoma
Total congenital cataract
Amish nemaline myopathy
Moyamoya disease
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Essential thrombocythemia
Spinocerebellar ataxia type 1
Alexander disease type I
Alexander disease type II
Hereditary breast and ovarian cancer syndrome
Pulverulent cataract
Hereditary spherocytosis
Translocation renal cell carcinoma
Aneurysm - osteoarthritis syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Wiskott-Aldrich syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant Charcot-Marie-Tooth disease type 2L
X-linked non-syndromic intellectual deficit
Sheldon-Hall syndrome
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Hutchinson-Gilford progeria syndrome
Lethal restrictive dermopathy
Autosomal recessive limb girdle muscular dystrophy type 2A
Split hand-split foot malformation
Adrenocortical carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Acute promyelocytic leukemia
Cerebellar ataxia - hypogonadism
Cap myopathy
Distal 22q11.2 microdeletion syndrome
Alveolar rhabdomyosarcoma
Autosomal dominant centronuclear myopathy
Familial exudative vitreoretinopathy
Monosomy 5p
Lissencephaly due to TUBA1A mutation
Autosomal dominant limb-girdle muscular dystrophy type 1D
Fibronectin glomerulopathy
Glutaryl-CoA dehydrogenase deficiency
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Developmental malformations - deafness - dystonia
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Idiopathic pulmonary fibrosis
Isolated delta-storage pool disease
Keratosis palmoplantaris striata
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Auriculocondylar syndrome
Cabezas syndrome
Common variable immunodeficiency
Congenital fibrosis of extraocular muscles
Generalized congenital lipodystrophy with myopathy
Glycogen storage disease due to muscle beta-enolase deficiency
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Juvenile rheumatoid factor-negative polyarthritis
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Oligoarticular juvenile arthritis
46,XY partial gonadal dysgenesis
Alobar holoprosencephaly
Autosomal recessive limb-girdle muscular dystrophy type 2C
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autoimmune lymphoproliferative syndrome
Autosomal agammaglobulinemia
Cystic fibrosis
Familial isolated congenital asplenia
Johanson-Blizzard syndrome
Nephroblastoma
Autosomal dominant beta2-microglobulinic amyloidosis
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
CADASIL
Infantile myofibromatosis
Isolated NADH-CoQ reductase deficiency
Blackfan-Diamond anemia
Mitochondrial trifunctional protein deficiency
Acrokeratosis verruciformis of Hopf
Darier disease
Complete androgen insensitivity syndrome
Congenital muscular dystrophy with integrin alpha-7 deficiency
Distal myopathy with posterior leg and anterior hand involvement
Familial hypospadias
Kennedy disease
Muscle filaminopathy
Partial androgen insensitivity syndrome
Adult-onset autosomal dominant leukodystrophy
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Mandibuloacral dysplasia with type A lipodystrophy
Nestor-Guillermo progeria syndrome
Progeria-associated arthropathy
Trismus - pseudocamptodactyly
Leukocyte adhesion deficiency type I
Acute encephalopathy with biphasic seizures and late reduced diffusion
Brody myopathy
Hemolytic anemia due to adenylate kinase deficiency
Parkinsonian-pyramidal syndrome
West syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Hereditary central diabetes insipidus
3M syndrome
Coralliform cataract
X-linked centronuclear myopathy
8p11.2 deletion syndrome
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Myostatin-related muscle hypertrophy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Melanoma of soft part
Steinert myotonic dystrophy
Cleidocranial dysplasia
Glycogen storage disease due to muscle phosphofructokinase deficiency
Helicoid peripapillary chorioretinal degeneration
Lethal congenital contracture syndrome type 3
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Familial amyloidosis, Finnish type
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Mantle cell lymphoma
Multiple myeloma
Primary Fanconi syndrome
2q37 microdeletion syndrome
Neonatal inflammatory skin and bowel disease
Familial advanced sleep-phase syndrome
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Southeast Asian ovalocytosis
3-phosphoglycerate dehydrogenase deficiency
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
ALG1-CDG
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
APC-related attenuated familial adenomatous polyposis
Acute necrotizing encephalopathy of childhood
Adult-onset distal myopathy due to VCP mutation
Alpha-1-antichymotrypsin deficiency
Anaplastic ependymoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Anophthalmia / microphthalmia - esophageal atresia
Argininosuccinic aciduria
Arnold-Chiari malformation type II
Attenuated Chédiak-Higashi syndrome
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant hyper-IgE syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1C
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive cutis laxa type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive spastic paraplegia type 18
Benign Samaritan congenital myopathy
Birt-Hogg-Dube syndrome
Branchio-oculo-facial syndrome
CLN3 disease
Caudal regression sequence
Central core disease
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Charcot-Marie-Tooth disease type 1C
Childhood absence epilepsy
Chronic granulomatous disease
Chédiak-Higashi syndrome
Coats disease
Coffin-Siris syndrome
Colobomatous microphthalmia
Cone rod dystrophy
Congenital amegakaryocytic thrombocytopenia
Congenital glaucoma
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital non-communicating hydrocephalus
Cornelia de Lange syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Delta-beta-thalassemia
Dent disease type 1
Distal monosomy 3p
Dravet syndrome
Dyskeratosis congenita
Dyssegmental dysplasia, Silverman-Handmaker type
Early infantile epileptic encephalopathy
Encephalopathy due to prosaposin deficiency
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epilepsy with myoclonic-astatic seizures
Erythrocyte galactose epimerase deficiency
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial or sporadic hemiplegic migraine
Familial partial lipodystrophy due to AKT2 mutations
Familial rhabdoid tumor
Familial spontaneous pneumothorax
Familial thrombocytosis
Fetal akinesia deformation sequence
Fetal and neonatal alloimmune thrombocytopenia
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Galactokinase deficiency
Galactosialidosis
Gamma-aminobutyric acid transaminase deficiency
Gardner syndrome
Generalized epilepsy with febrile seizures-plus context
Generalized galactose epimerase deficiency
Geroderma osteodysplastica
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Gorlin syndrome
Hemolytic anemia due to glucophosphate isomerase deficiency
Hepatoerythropoietic porphyria
Hereditary cerebral cavernous malformation
Hereditary orotic aciduria
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hereditary sensory and autonomic neuropathy type 2
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hoyeraal-Hreidarsson syndrome
Hyper-IgM syndrome type 3
Hyperlipidemia type 3
Hyperphosphatasia-intellectual deficiency syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Idiopathic CD4 lymphocytopenia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incontinentia pigmenti
Infantile Krabbe disease
Isolated CoQ-cytochrome C reductase deficiency
Isolated adermatoglyphia
Isolated anophthalmia - microphthalmia
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Juvenile glaucoma
Juvenile myoclonic epilepsy
Juvenile primary lateral sclerosis
King-Denborough syndrome
Late-onset autosomal recessive medullary cystic kidney disease
Leigh syndrome with cardiomyopathy
Lennox-Gastaut syndrome
Lethal multiple pterygium syndrome
Lipoprotein glomerulopathy
Loeys-Dietz syndrome type 1
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Malignant hyperthermia
Malignant migrating partial seizures of infancy
Mandibuloacral dysplasia with type B lipodystrophy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Moderate multiminicore disease with hand involvement
Monosomy 9q22.3
Mosaic variegated aneuploidy syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Myelofibrosis with myeloid metaplasia
Nager syndrome
Neuroblastoma
Norrie disease
Oligodontia
Omenn syndrome
PYCR1-related DeBarsy syndrome
Papillary or follicular thyroid carcinoma
Partial acquired lipodystrophy
Pediatric systemic lupus erythematosus
Peripheral primitive neuroectodermal tumor
Persistent hyperplastic primary vitreous
Peters anomaly
Phosphoserine aminotransferase deficiency
Pituitary stalk interruption syndrome
Polycythemia vera
Polymicrogyria due to TUBB2B mutation
Porphyria cutanea tarda
Postsynaptic congenital myasthenic syndromes
Primary ciliary dyskinesia
Proximal myotonic myopathy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Pyruvate dehydrogenase E1-alpha deficiency
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Reticular dysgenesis
Retinopathy - anemia- central nervous system anomalies
Retinopathy of prematurity
Richieri Costa-Pereira syndrome
Rippling muscle disease
Schwartz-Jampel syndrome
Sea-blue histiocytosis
Septo-optic dysplasia
Severe X-linked mitochondrial encephalomyopathy
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
Short stature - pituitary and cerebellar defects - small sella turcica
Short stature due to growth hormone qualitative anomaly
Shprintzen-Goldberg syndrome
Simpson-Golabi-Behmel syndrome
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 7
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Turcot syndrome with polyposis
Unverricht-Lundborg disease
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Wolf-Hirschhorn syndrome
X-linked Charcot-Marie-Tooth disease type 4
X-linked distal arthrogryposis multiplex congenita
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked hyper-IgM syndrome
X-linked hypohidrotic ectodermal dysplasia
X-linked lymphoproliferative disease
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Xq27.3q28 duplication syndrome
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Frasier syndrome
Meacham syndrome
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal thrombocytopenia with normal platelets
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Familial apolipoprotein C-II deficiency
Hb Bart's hydrops fetalis
Hemoglobin H disease
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Knobloch syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Classical progressive supranuclear palsy
Distal hereditary motor neuropathy type 7
Perry syndrome
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive myogenic arthrogryposis multiplex congenita
Cobblestone lissencephaly without muscular or ocular involvement
Familial expansile osteolysis
Juvenile myelomonocytic leukemia
LAMB-2-related infantile-onset nephrotic syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Occipital pachygyria and polymicrogyria
Osteopetrosis - hypogammaglobulinemia
Pierson syndrome
SHORT syndrome
Synaptic congenital myasthenic syndromes
46,XY complete gonadal dysgenesis
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Ataxia-telangiectasia-like disorder
CLN4B disease
Craniolenticulosutural dysplasia
D,L-2-hydroxyglutaric aciduria
Frontotemporal dementia with motor neuron disease
Glycogen storage disease due to phosphoglycerate mutase deficiency
Hereditary sensory and autonomic neuropathy type 5
Hypotrichosis simplex
Juvenile amyotrophic lateral sclerosis
MODY syndrome
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Osteogenesis imperfecta type 3
Perlman syndrome
Permanent neonatal diabetes mellitus
Systemic-onset juvenile idiopathic arthritis
Triose phosphate-isomerase deficiency
Synonym(s):
- Familial or idiopathic dilated cardiomyopathy

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
39 OMIM references -
No MeSH references

Very frequent
- Autosomal dominant inheritance
- Cardiomyopathy / hypertrophic / dilated

Occasional
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Lipoatrophy
- Myopathy
- Palmoplantar hyperkeratosis / keratoderma
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sensorineural deafness / hearing loss
- Stillbirth / neonatal death
- X-linked dominant inheritance
- X-linked recessive inheritance