Phenotype #0000170751

Individual ID 00225648
Associated disease ENC
Phenotype details Central apnoea (HP:0000961); Cyanosis (HP:0002871); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Metabolic acidosis (HP:0001942); Hyperglycemia (HP:0003074); Coma (HP:0001259); Bilateral oedema of optic disks
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-02-22 10:53:03 +01:00 (CET)
Date last edited 2020-05-19 09:33:35 +02:00 (CEST)

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