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Severe congenital nemaline myopathy
4 associated genes
121 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Typical nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Noonan syndrome
Familial isolated restrictive cardiomyopathy
Juvenile myelomonocytic leukemia
Amyotrophic lateral sclerosis
Cap myopathy
Precursor T-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Angelman syndrome
Familial pancreatic carcinoma
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
Hereditary gingival fibromatosis
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Scapuloperoneal amyotrophy
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Baraitser-Winter syndrome
Griscelli disease type 3
Pulverulent cataract
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital intrauterine infection-like syndrome
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Inflammatory myofibroblastic tumor
Miyoshi myopathy
APC-related attenuated familial adenomatous polyposis
Anaplastic ependymoma
Atypical teratoid tumor
Coffin-Siris syndrome
Cornelia de Lange syndrome
Cowden syndrome
Craniometaphyseal dysplasia
Desmoid tumor
Estrogen resistance syndrome
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial melanoma
Familial multiple meningioma
Familial rhabdoid tumor
Gardner syndrome
Giant cell arteritis
Glycogen storage disease due to muscle beta-enolase deficiency
Granulomatosis with polyangiitis
Hypoplastic left heart syndrome
Juvenile rheumatoid factor-negative polyarthritis
LEOPARD syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mosaic variegated aneuploidy syndrome
Neurofibromatosis type 3
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Proteus syndrome
Romano-Ward syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Syndactyly type 3
Turcot syndrome with polyposis
Wilson-Turner syndrome
Charcot-Marie-Tooth disease type 4H
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
2q37 microdeletion syndrome
Catecholaminergic polymorphic ventricular tachycardia
Digitotalar dysmorphism
Parkinsonian-pyramidal syndrome
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Common variable immunodeficiency
Congenital mesoblastic nephroma
Isolated focal cortical dysplasia type IIb
Left ventricular noncompaction
Tuberous sclerosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Congenital dyserythropoietic anemia type III
Essential thrombocythemia
Familial thoracic aortic aneurysm and aortic dissection
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
Distal 22q11.2 microdeletion syndrome
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
ACTA1 P68133102610
KLHL40 Q2TBA0615340
KLHL41 O60662607701
NEB P20929161650
No signs/symptoms info available.