Global Variome shared LOVD

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

Phenotype #0000332798 Individual ID 00443456 Associated disease ? Diagnosis/Initial lissencephaly, megalencephaly Diagnosis/Definite MRT34 Phenotype details see paper, ..., height 173.4 cm (-0.83SD), weight 82.6 kg (+0.85SD), OFC 59.2 cm (+2.2SD), mild megalencephaly; mild intellectual disability; no seizures Inheritance Familial, autosomal recessive Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-27 10:25:59 +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.