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Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

1 OMIM reference -
1 associated gene
78 connected diseases
No signs/symptoms info

Disease	Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant nonsyndromic intellectual deficit
Amyotrophic lateral sclerosis
Common variable immunodeficiency
Young adult-onset Parkinsonism
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
17p13.3 microduplication syndrome
Lissencephaly due to LIS1 mutation
Miller-Dieker syndrome
Subcortical band heterotopia
Distal hereditary motor neuropathy type 7
Perry syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
17q11 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Early-onset generalized limb-onset dystonia
Familial isolated dilated cardiomyopathy
Myoclonus-dystonia syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal recessive spastic paraplegia type 20
Burkitt lymphoma
Giant cell glioblastoma
Gliosarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Precursor T-cell acute lymphoblastic leukemia
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Huntington disease
Juvenile Huntington disease
Autosomal dominant hypohidrotic ectodermal dysplasia
Blackfan-Diamond anemia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Estrogen resistance syndrome
Familial dysautonomia
Familial pancreatic carcinoma
Familial prostate cancer
Fibronectin glomerulopathy
Frontometaphyseal dysplasia
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Terminal osseous dysplasia - pigmentary defects
Hereditary pheochromocytoma-paraganglioma
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Cap myopathy
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Digitotalar dysmorphism
Distal myopathy with posterior leg and anterior hand involvement
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Muscle filaminopathy
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Parkinsonian-pyramidal syndrome
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Typical nemaline myopathy
17q11.2 microduplication syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Noonan syndrome
Watson syndrome

Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Diseases of the nervous system -

Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
DYNC1H1	Q14204	600112

No signs/symptoms info available.