Phenotype #0000357253

Individual ID 00472443
Associated disease metabolic disease
Phenotype details metabolic acidosis (HP:0001942); hyponatremia (HP:0002902); global developmental delay (HP:0001263); generalized hypotonia (HP:0001290); seizures (HP:0001250); abnormality of extrapyramidal motor function (HP:0002071); EEG with abnormally slow frequencies (HP:0011203); intraventricular haemorrhage (HP:0030746); abnormal delivery (HP:0001787) (foetal suffering)
Diagnosis/Initial congenital lactic acidosis
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 27y (27 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2026-02-16 15:46:49 +01:00 (CET)
Date last edited N/A

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