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Distal myopathy with posterior leg and anterior hand involvement
1 OMIM reference -
1 associated gene
105 connected diseases
No signs/symptoms info
Disease Type of connection
Muscle filaminopathy
Senior-Loken syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2F
Familial isolated dilated cardiomyopathy
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Autosomal dominant limb-girdle muscular dystrophy type 1A
Myotilin-related myofibrillar myopathy without spheroid body
Spheroid body myopathy
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2C
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Leber congenital amaurosis
Limb-mammary syndrome
Split hand-split foot malformation
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Acute inflammatory demyelinating polyradiculoneuropathy
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Atypical hemolytic uremic syndrome with C3 anomaly
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant spastic paraplegia type 13
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Baraitser-Winter syndrome
Blackfan-Diamond anemia
Cap myopathy
Capillary malformation - arteriovenous malformation
Catecholaminergic polymorphic ventricular tachycardia
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Childhood-onset nemaline myopathy
Chorioretinopathy, Birdshot type
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Combined deficiency of factor V and factor VIII
Complement component 3 deficiency
Congenital fiber-type disproportion myopathy
Congenital mesoblastic nephroma
Constitutional mismatch repair deficiency syndrome
Craniometaphyseal dysplasia
Dejerine-Sottas syndrome
Digitotalar dysmorphism
Distal hereditary motor neuropathy type 2
Dyssegmental dysplasia, Silverman-Handmaker type
Estrogen resistance syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Fibronectin glomerulopathy
Glycogen storage disease due to LAMP-2 deficiency
Gräsbeck-Imerslund disease
Hereditary neuropathy with liability to pressure palsies
Hereditary nonpolyposis colon cancer
Hypoplastic left heart syndrome
Immunodeficiency due to an early component of complement deficiency
MERRF syndrome
Medium chain acyl-CoA dehydrogenase deficiency
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Oculodentodigital dysplasia
Parkes Weber syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Pseudohypoaldosteronism type 2E
Pulverulent cataract
Punctate palmoplantar keratoderma type 1
Roussy-Lévy syndrome
SHORT syndrome
Schwartz-Jampel syndrome
Sheldon-Hall syndrome
Sporadic Leigh syndrome
Sudden infant death - dysgenesis of the testes
Syndactyly type 3
Trismus - pseudocamptodactyly
Typical nemaline myopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Distal hereditary motor neuropathy type 7
Perry syndrome
- Distal ABD-filaminopathy

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: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
FLNC Q14315102565
No signs/symptoms info available.