Metachromatic Leukodystrophy Due To Saposin B Deficiency

Clinical Features

Top most frequent phenotypes and symptoms related to Metachromatic Leukodystrophy Due To Saposin B Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Dysphagia
  • Hyporeflexia

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Metachromatic Leukodystrophy Due To Saposin B Deficiency Is also known as saposin b deficiency, metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency.

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.

Metachromatic Leukodystrophy Due To Saposin B Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
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 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
PSAP Gene Sequencing.

By GeneDx (United States).

PSAP
Specificity
100 %
Genes
100 %
Metachromatic Leukodystrophy due to Saposin B Deficiency.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

PSAP
Specificity
100 %
Genes
100 %
PSAP. Complete sequencing.

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

PSAP
Specificity
100 %
Genes
100 %
Prosaposin deficiency (sequence analysis of PSAP gene).

By CGC Genetics (Portugal).

PSAP
Specificity
100 %
Genes
100 %

You can get up to 45 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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