Disease #05373 (NELABA (encephalopathy, neonatal, severe, with lactic acidosis and brain abnormalities (NELABA)), OMIM:617668)

Official abbreviation NELABA
Name encephalopathy, neonatal, severe, with lactic acidosis and brain abnormalities (NELABA)
OMIM ID 617668
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene LIPT2
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00147086 28757203-Fam1Pat1 PubMed: Habarou 2017 2-generation family, affected son, unaffected heterozygous carrier parents M no Cote D'Ivoire (Ivory Coast);France - - 0 - - NELABA see paper; ..., neonatal onset; truncal hypotonia, spastic tetraparesis, dystonia, epilepsy, microcephaly, delayed psychomotor development, hyperlactatemia; MRI supra-tentorial cortical atrophy, ventricular dilatation, bifrontal white matter abnormalities, delayed myelination, progressive thalamus and putamen cerebral hyperintensities LIPT2 LIPT2 2 1 Johan den Dunnen
00147087 28757203-Fam2Pat2 PubMed: Habarou 2017 2-generation family, affected bother/sister, unaffected heterozygous carrier parents M no France - 00y02m 0 - - NELABA see paper; ..., onset neonatal; 2m-deceased without any development; severe muscular hypotonia; MRI enlarged lateral ventricules, periventricular cystic changes LIPT2 LIPT2 2 2 Johan den Dunnen
00147088 28757203-Fam2Pat3 PubMed: Habarou 2017 sister of Pat2 F - France - 00y07m 0 - - NELABA see paper; ..., onset neonatal; 7m-deceased without any development; respiratory distress; MRI enlarged lateral ventricules, cortical and white matter cystic abnormalities, decreased gyrification cerebral hemispheres LIPT2 LIPT2 2 1 Johan den Dunnen
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