Phenotype #0000297964

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00405433
Associated disease	HMGCLD
Phenotype details	see paper; ..., hypothermia, convulsions, hypoglycemia, metabolic acidosis, liver dysfunction; 4y9m-bilateral occipital porencephaly
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	04y09m (4 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	2d
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-17 20:45:33 +01:00 (CET)
Date last edited	2022-03-17 21:15:59 +01:00 (CET)

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