Phenotype #0000270405

Individual ID 00375195
Associated disease ?
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDHND
Phenotype details congenital hypotonia; profound weakness; areflexia; seizures, severe drug resistant epilepsy; severe speech delay; global developmental delay; cortical visual impairment; axonal motor neuropathy; MRI brain abnormalities; feeding difficulties, gastrostomy tube; respiratory difficulties
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-05-29 22:08:10 +02:00 (CEST)
Date last edited N/A

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