Neonatal Glycine Encephalopathy
Description
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Clinical Features
Top most frequent phenotypes and symptoms related to Neonatal Glycine Encephalopathy
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
- Muscular hypotonia
- Feeding difficulties
- Motor delay
- Hypertension
And another 52 symptoms. If you need more information about this disease we can help you.
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
Neonatal Glycine Encephalopathy Is also known as classic glycine encephalopathy, neonatal nkh, nkh, neonatal non-ketotic hyperglycinemia, hyperglycinemia, nonketotic.
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.Neonatal Glycine Encephalopathy Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®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 % |
GCSH-Related Glycine Encephalopathy, Nonketotic Hyperglycinemia - Del/Dup Analysis.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
GCSH
Specificity
100 %
Genes
34 % |
GCSH-Related Glycine Encephalopathy, Nonketotic Hyperglycinemia - Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
GCSH
Specificity
100 %
Genes
34 % |
GCSH. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
GCSH
Specificity
100 %
Genes
34 % |
Glycine encephalopathy (sequence analysis of GCSH gene).
By CGC Genetics (Portugal).
GCSH
Specificity
100 %
Genes
34 % |
Epileptic encephalopathy (NGS panel for 67 genes).
By CGC Genetics (Portugal).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, SLC2A1, SLC9A6, SPTAN1, CDKL5, STXBP1, SYNGAP1, TBCE, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, PCDH19, ARHGEF9 , (...)
View the complete list with 47 more genes
Specificity
5 %
Genes
100 % |
Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes).
By CGC Genetics (Portugal).
GCSH, GLDC, AMT
Specificity
100 %
Genes
100 % |
Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes).
By CGC Genetics (Portugal).
GCSH, GLDC, AMT
Specificity
100 %
Genes
100 % |
You can get up to 107 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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