Phenotype #0000357296

Individual ID 00472486
Associated disease NDD
Diagnosis/Initial congenital lactic acidosis
Diagnosis/Definite CHOCNS
Phenotype details see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; speech delay; no intellectual disability; autism; repetitive/stereotypical behavior, anxiety; normal age sit; normal age walk; 12m-speech, regression; hypotonia; no seizures; MRI brain normal; constipation; epistaxis, recurrent otitis media; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; frequent upper respiratory infection; no dysmorphic features
Inheritance Isolated (sporadic)
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-02-18 11:04:57 +01:00 (CET)
Date last edited N/A

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