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Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
137 connected diseases
8 signs/symptoms
Disease Type of connection
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Typical nemaline myopathy
Cap myopathy
Inflammatory myofibroblastic tumor
Congenital myopathy with excess of thin filaments
Severe congenital nemaline myopathy
Digitotalar dysmorphism
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Classic multiminicore myopathy
Congenital muscular dystrophy with integrin alpha-7 deficiency
Desmin-related myopathy with Mallory body-like inclusions
Rigid spine syndrome
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Cornelia de Lange syndrome
Left ventricular noncompaction
Baraitser-Winter syndrome
Familial pancreatic carcinoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Amyotrophic lateral sclerosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Congenital glaucoma
Juvenile glaucoma
Cowden syndrome
Proteus syndrome
Wilson-Turner syndrome
Chronic myeloid leukemia
Giant cell glioblastoma
Angelman syndrome
Developmental malformations - deafness - dystonia
Familial thoracic aortic aneurysm and aortic dissection
Familial amyloidosis, Finnish type
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Becker muscular dystrophy
Duchenne muscular dystrophy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Lethal multiple pterygium syndrome
Postsynaptic congenital myasthenic syndromes
Fibronectin glomerulopathy
Griscelli disease type 3
Pulverulent cataract
Congenital intrauterine infection-like syndrome
Anaplastic ependymoma
Atypical teratoid tumor
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Coffin-Siris syndrome
Congenital bilateral absence of vas deferens
Craniometaphyseal dysplasia
Cystic fibrosis
Dedifferentiated liposarcoma
Distal myopathy with posterior leg and anterior hand involvement
Dyskeratosis congenita
Early-onset myopathy with fatal cardiomyopathy
Estrogen resistance syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial melanoma
Familial multiple meningioma
Familial prostate cancer
Familial rhabdoid tumor
Giant cell arteritis
Granulomatosis with polyangiitis
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary chronic pancreatitis
Hereditary proximal myopathy with early respiratory failure
Hereditary site-specific ovarian cancer syndrome
Hypoplastic left heart syndrome
Idiopathic bronchiectasis
Juvenile myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Male infertility with normal virilization due to meiosis defect
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mosaic variegated aneuploidy syndrome
Muscle filaminopathy
Neurofibromatosis type 3
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Syndactyly type 3
Tibial muscular dystrophy
Well-differentiated liposarcoma
Charcot-Marie-Tooth disease type 4H
Aneurysm - osteoarthritis syndrome
2q37 microdeletion syndrome
Parkinsonian-pyramidal syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Chronic myelomonocytic leukemia
Common variable immunodeficiency
Congenital mesoblastic nephroma
Isolated focal cortical dysplasia type IIb
Tuberous sclerosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Congenital dyserythropoietic anemia type III
Essential thrombocythemia
Familial isolated restrictive cardiomyopathy
Fetal and neonatal alloimmune thrombocytopenia
Hereditary spherocytosis
Herpetic encephalitis
Li-Fraumeni syndrome
Papilloma of choroid plexus
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
Usher syndrome type 1
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Distal hereditary motor neuropathy type 2
Encephalopathy due to hydroxykynureninuria
Extraskeletal myxoid chondrosarcoma
Neuralgic amyotrophy
Translocation renal cell carcinoma

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Hypotonia
- Myopathy

- Pectus excavatum
- Repeat respiratory infections
- Scoliosis