Phenotype #0000230173

Individual ID 00303089
Associated disease HSD10MD
Inheritance Familial, X-linked recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite HSD10D
Age/Onset -
Phenotype/Onset -
Phenotype details suspected possible episodes of absence epilepsy, observed elevations liver transaminases, history of neonatal death sister and mother's new pregnancy; epilepsy not confirmed, cytomegalovirus infection explained transient hepatic abnormalities; 18m-asymptomatic, normal development
Enzyme/Activity -
Protein -
Age/Diagnosis -
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 2020-06-05 19:13:24 +02:00 (CEST)
Date last edited N/A

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