Hypomyelinating leukodystrophy 5
HLD5

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



Prevalence of clinical parameters (%)







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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%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay multi 100 % 21911699 2015-03-20
Muscle weakness skeletal 100 % 21911699 2015-03-20
Scoliosis skeletal 100 % 21911699 2015-03-20
Muscle atrophy skeletal 100 % 21911699 2015-03-20
Mental retardation nervous 100 % 21911699 2015-03-20
Decreased motor nerve conduction velocity nervous 100 % 21911699 2015-03-20
Hypomyelination nervous 100 % 21911699 2015-03-20
White matter atrophy nervous 100 % 21911699 2015-03-20
Leukodystrophy nervous 100 % 21911699 2015-03-20
Corpus callosum thining nervous 100 % 21911699 2015-03-20
Cataract nervous 89 % 21911699 2015-03-20
Pyramidal signs nervous 89 % 21911699 2015-03-20
Nystagmus nervous 66 % 21911699 2015-03-20
Tremor nervous 33 % 21911699 2015-03-20
Truncal titubation nervous 33 % 21911699 2015-03-20
Hypotonia nervous 11 % 21911699 2015-03-20
Seizures nervous 11 % 21911699 2015-03-20
Cerebellar atrophy nervous 11 % 21911699 2015-03-20



List of references:


Hypomyelination and congenital cataract: broadening the clinical phenotype.
Roberta Biancheri, Federico Zara, Andrea Rossi, Mikael Mathot, Marie Cecile Nassogne, Cengiz Yalcinkaya, Ozdem Erturk, Behyan Tuysuz, Maja Di Rocco, Elisabetta Gazzerro, Marianna Bugiani, Resie van Spaendonk, Erik A Sistermans, Carlo Minetti, Marjo S van der Knaap, Nicole I Wolf,

To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.

Archives of neurology - Sep 2011