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Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 44 is a neurological disorder caused by mutations of the GJC2 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Ataxia-pancytopenia syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
GJC2
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Orthmann-Murphy JL et al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

external link
2.

OMIM.ORG article

Omim 613206 external link
3.

Orphanet article

Orphanet ID 320401 external link
Update: Aug. 14, 2020
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