Leukodystrophy, Hypomyelinating, 11; Hld11

Description

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).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, 11; Hld11

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia
  • Tremor
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
  • Abnormality of the dentition
  • Hypogonadism

And another 3 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.
No data available about the known clinical features onset.

Researches and researchers

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Leukodystrophy, Hypomyelinating, 11; Hld11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

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Treacher Collins Syndrome NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TCOF1, POLR1C, POLR1D
Specificity
34 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
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1 %
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100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
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Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 %
POLR1C.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

POLR1C
Specificity
100 %
Genes
100 %
POLR1C. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

POLR1C
Specificity
100 %
Genes
100 %
TCOF1, POLR1C, POLR1D. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TCOF1, POLR1C, POLR1D
Specificity
34 %
Genes
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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