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

3 entries on 1 page. Showing entries 1 - 3.
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AscendingPhenotype ID     

Diagnosis/Initial     

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Phenotype details     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

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Individual ID     
0000119802 - - 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 Familial, autosomal recessive 10y - - - Johan den Dunnen 00147086
0000119803 - - see paper; ..., onset neonatal; 2m-deceased without any development; severe muscular hypotonia; MRI enlarged lateral ventricules, periventricular cystic changes Familial, autosomal recessive - - - - Johan den Dunnen 00147087
0000119804 - - 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 Familial, autosomal recessive - - - - Johan den Dunnen 00147088
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