Leukodystrophy, Hypomyelinating, 13; Hld13

Description

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Hypomyelinating, 13; Hld13

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Spasticity
  • Flexion contracture
  • Visual impairment
  • Feeding difficulties
  • Hyperreflexia
And another 12 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Leukodystrophy, Hypomyelinating, 13; Hld13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
C11orf73.

By Fulgent Genetics Fulgent Genetics in United States.

HIKESHI
Specificity
100 %
Genes
100 %

Alternate names

Leukodystrophy, Hypomyelinating, 13; Hld13 Is also known as ;c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy; hypomyelinating leukodystrophy due to hikeshi deficiency.


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