Phenotype #0000094162

Individual ID 00119095
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 3y-died (epilepsy); onset 4m-muscular hypotonia, strabismus; unremarkable neonatal course; severe intellectual disability, developmental delay; decreased muscle tone; no movement disorder; epilepsy; cardiomyopathy, retinitis pigmentosa; lactic acidosis (HP:0003128), encephalopathy (HP:0001298)
Inheritance Unknown
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Saskia Wortmann
Database submission license No license selected
Created by Saskia Wortmann
Date created 2017-09-07 12:08:44 +02:00 (CEST)
Date last edited 2021-02-01 09:50:50 +01:00 (CET)

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