Phenotype #0000333929

Global Variome shared LOVD

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

Individual ID	00444677
Associated disease	aciduria
Phenotype details	no newborn screening performed; <5m-deceased deceased, cause unknown; hydroxoc-obalamin treatment not effective
Diagnosis/Initial	methylmalonic acidemia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMA
Age/Examination	<5m
Age/Diagnosis	-
Age/Onset	3d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-27 15:19:13 +01:00 (CET)
Date last edited	N/A

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