Phenotype #0000247035

Individual ID 00328827
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 1y6m-died (epilepsy); neonatal onset; low birth weight, (HP:0003128), hypoglycaemia; severe intellectual disability, developmental delay; increased muscle tone; impaired suckling/swallowing; epilepsy; MRI-brain neonatal white matter edema, 18m-frontal atrophy; max. serum lactate 15 mmol/l; encephalopathy (HP:0001298)
Inheritance Unknown
Age/Examination 01y06m (1 year, 6 months)
Age/Diagnosis -
Age/Onset <00y00m00d
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 2021-02-01 10:16:10 +01:00 (CET)
Date last edited N/A

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