Global Variome shared LOVD

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

Phenotype #0000279585 Individual ID 00385772 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT7 Inheritance Familial, autosomal recessive Phenotype details see paper; ..., severe intellectual disability, nonprogressive; normal height, normal weight, normal OFC; no malformations, normal metabolic screening (amino acid chromatography, blood lactate and pyruvate levels, liver function, and ammonemia); normal bone X-rays, normal cerebral MRI, normal ECG Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-10-15 09:58:58 +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.