Phenotype #0000142649

Individual ID 00180172
Associated disease ?
Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations
Diagnosis/Definite PHGDHD
Phenotype details (Pharmacoresistant severe) epileptic encephalopathy (HP:0200134), cerebral palsy (HP:0100021), profound global developmental delay (HP:0012736), microcephaly (HP:0000252). Head MRI: cerebral atrophy (HP:0002283).
Inheritance Familial, autosomal recessive
Age/Examination -
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 2018-08-24 19:40:22 +02:00 (CEST)
Date last edited N/A

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