Phenotype #0000297975

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00405452
Associated disease	HMGCLD
Phenotype details	see paper; ..., 4m-aciduria, recurrent vomiting, muscular hypotonia, comatose attacks, hyperammonemia, liver dysfunction, massive excretion of organic acids typical of HMG-CoA lyase deficiency
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-18 09:36:36 +01:00 (CET)
Date last edited	2022-03-18 09:44:43 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.