Phenotype #0000298047

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00405524
Associated disease	HMGCLD
Phenotype details	see paper; ..., macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure, metabolic acidosis
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	00y08m (8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-18 17:03:40 +01:00 (CET)
Date last edited	N/A

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