Hypomyelinating leukodystrophy 4
HLD4

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Prevalence (%) of clinical parameters based on data from 1 references describing 10 individuals







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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
No head control nervous 100 % 18571143 2014-10-11
Head titubation nervous 100 % 18571143 2014-10-11
Hypotonia nervous 100 % 18571143 2014-10-11
Spasticity nervous 100 % 18571143 2014-10-11
Hyperactive reflexes nervous 100 % 18571143 2014-10-11
Babinski's sign nervous 100 % 18571143 2014-10-11
Strabismus nervous 100 % 18571143 2014-10-11
Psychomotor retardation nervous 100 % 18571143 2014-10-11
Exacerbation during febrile episodes lymphatic 100 % 18571143 2014-10-11
Hypomyelination nervous 100 % 18571143 2014-10-11
Leukodystrophy nervous 100 % 18571143 2014-10-11
Abnormal brain stem function nervous 100 % 18571143 2014-10-11
Nystagmus nervous 90 % 18571143 2014-10-11
Ethylmalonic aciduria urinary 63 % 18571143 2014-10-11
Seizures nervous 60 % 18571143 2014-10-11
Apnea respiratory 60 % 18571143 2014-10-11
Lactate accumulation circulatory 40 % 18571143 2014-10-11



List of references:


Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel,



American journal of human genetics - Jul 2008