Hypomagnesemia, Seizures, And Mental Retardation; Homgsmr

Description

Hypomagnesemia, seizures, and mental retardation is a disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).

Clinical Features

Phenotypes and symptoms related to Hypomagnesemia, Seizures, And Mental Retardation; Homgsmr

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Absent speech
  • Aggressive behavior
  • Intellectual disability, moderate
  • Generalized myoclonic seizures
  • Hypomagnesemia

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

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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Hypomagnesemia, Seizures, And Mental Retardation; Homgsmr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypomagnesemia type 6 (sequence analysis of CNNM2 gene).

By CGC Genetics (Portugal).

CNNM2
Specificity
100 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics (Portugal).

CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
6 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics (Portugal).

CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
6 %
Genes
100 %
Test for Hypomagnesemia 6, Renal.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

CNNM2
Specificity
100 %
Genes
100 %
Hypomagnesemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
7 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Hypomagnesemia type 6.

By Centogene AG - the Rare Disease Company (Germany).

CNNM2
Specificity
100 %
Genes
100 %
CNNM2.

By Fulgent Genetics Fulgent Genetics (United States).

CNNM2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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