Phenotype #0000357293

Individual ID 00472483
Associated disease NDD
Diagnosis/Initial congenital lactic acidosis
Diagnosis/Definite CHOCNS
Phenotype details see paper; ..., no prenatal anomalies; neonatal nesaturations, hypoglycemia, jaundice; normal growth; developmental delay; intellectual disability; autism; repetitive/stereotypical behavior; 6m-sit; 14m-walk; 15m-speech, babbling, speech regression; axial hypotonia; seizures; MRI brain mild brainstem/cerebellar vermis hypoplasia, decreased white matter occipital horns, fatty filum terminale with large extradural sacral arachnoid cyst; no visual anomalies; no gastrointestinal anomalies; no genitourinary anomalies; PDA; recurrent otitis media; no dysmorphic features
Inheritance Isolated (sporadic)
Age/Examination 4y (4 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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