Phenotype #0000119804

Individual ID 00147088
Associated disease NELABA
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 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
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-01-01 13:34:30 +01:00 (CET)
Date last edited N/A

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