Leukodystrophy, Hypomyelinating, 2; Hld2

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Hypomyelinating, 2; Hld2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Motor delay

And another 30 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.

Alternative names

Leukodystrophy, Hypomyelinating, 2; Hld2 Is also known as pelizaeus-merzbacher-like disease, 1, pmld1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Leukodystrophy, Hypomyelinating, 2; Hld2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GJC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
50 %
GJC2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
50 %
GJC2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJC2
Specificity
100 %
Genes
50 %
GJC2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GJC2
Specificity
100 %
Genes
50 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Test for Spastic Paraplegia 44.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

GJC2
Specificity
100 %
Genes
50 %
HSPAR panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SACS, SPG11, SPG7, CCT5, PNPLA6, GJC2, SPART, SPG21, ZFYVE26, CYP7B1
Specificity
10 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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