Hypomyelinating leukodystrophy 2
HLD2

Contact us
 
Return to database


We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


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