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Hypomyelinating leukodystrophy 2
HLD2

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Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Nystagmus nervous 100 % 16707726 2015-03-20
Hypomyelination nervous 100 % 16707726 2015-03-20
Spasticity nervous 100 % 16707726 2015-03-20
Ataxia nervous 100 % 16707726 2015-03-20
Tremor nervous 100 % 16707726 2015-03-20
Dysarthria nervous 100 % 16707726 2015-03-20
Developmental delay nervous 92 % 16707726 2015-03-20
Mental retardation nervous 83 % 16707726 2015-03-20
Optic atrophy nervous 33 % 16707726 2015-03-20



List of references:


GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
M Bugiani, S Al Shahwan, E Lamantea, A Bizzi, E Bakhsh, I Moroni, M R Balestrini, G Uziel, M Zeviani,

Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin deposition in the brain. Mutations in the GJA12 gene, encoding connexin 47 (Cx47), were recently reported in five children with autosomal recessive PMLD.

Neurology - Jul 2006


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