Absent speech
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Acidosis, Lactic
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral cortical atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Delayed myelination
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Electroencephalogram abnormal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
|
30914295 |
2019 |
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
|
28803783 |
2017 |
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
|
28803783 |
2017 |
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
|
28757203 |
2017 |
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
|
28757203 |
2017 |
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
|
28757203 |
2017 |
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyper-beta-alaninemia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased serum lactate
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased serum pyruvate
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Neonatal encephalopathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy.
|
28757203 |
2017 |
Periventricular cysts
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Profound global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Renal cortical cysts
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Respiratory Insufficiency
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|