Hypoglycemia, Leucine-induced; Lih

Clinical Features

Top most frequent phenotypes and symptoms related to Hypoglycemia, Leucine-induced; Lih

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity
  • Hyperreflexia
  • Hypoglycemia
  • Irritability
  • Vertigo
  • Coma

And another 3 symptoms. If you need more information about this disease we can help you.

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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

Hypoglycemia, Leucine-induced; Lih Is also known as leucine-sensitive hypoglycemia of infancy.

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.

Hypoglycemia, Leucine-induced; Lih Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Congenital Hyperinsulinism Evaluation.

By Athena Diagnostics Inc (United States).

GCK, GLUD1, ABCC8, KCNJ11
Specificity
25 %
Genes
100 %
Neonatal Diabetes Mellitus Evaluation.

By Athena Diagnostics Inc (United States).

GCK, ABCC8, INS, PDX1, KCNJ11
Specificity
20 %
Genes
100 %
ABCC8 (NDM) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

ABCC8
Specificity
100 %
Genes
100 %
ABCC8 (CH) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

ABCC8
Specificity
100 %
Genes
100 %

You can get up to 105 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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