Hypotonia With Lactic Acidemia And Hyperammonemia

Description

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotonia With Lactic Acidemia And Hyperammonemia

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia
  • Low-set ears
  • Hypoplasia of the corpus callosum
  • Cardiomyopathy
  • Edema
  • Posteriorly rotated ears

And another 18 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

Hypotonia With Lactic Acidemia And Hyperammonemia Is also known as combined oxidative phosphorylation defect type 5, coxpd5.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hypotonia With Lactic Acidemia And Hyperammonemia 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 %
MRPS22 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MRPS22
Specificity
100 %
Genes
100 %
MRPS22 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MRPS22
Specificity
100 %
Genes
100 %
MRPS22 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MRPS22
Specificity
100 %
Genes
100 %
MRPS22 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MRPS22
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %

We have 24 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREMATURE OVARIAN FAILURE 1; POF1 LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA; KLICK

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more