Phenotype #0000343413

Global Variome shared LOVD

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

Individual ID	00454802
Associated disease	?
Diagnosis/Initial	methionine synthase reductase deficiency
Diagnosis/Definite	HMAE
Phenotype details	microcephaly, significant mental retardation, severe megaloblastic anemia
Inheritance	Familial, autosomal recessive
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-27 16:50:07 +02:00 (CEST)
Date last edited	N/A

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