Phenotype #0000276842

Individual ID 00383044
Associated disease MRD45
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Delayed speech and language development, Behavioral abnormality, Seizure, Increased serum lactate, Increased CSF lactate, Hyperglycinemia
Inheritance Isolated (sporadic)
Age/Examination 08y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-09-20 11:47:12 +02:00 (CEST)
Date last edited 2021-09-30 10:46:26 +02:00 (CEST)

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