Global Variome shared LOVD

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

Phenotype #0000301252 Individual ID 00409136 Associated disease NBIA1 Phenotype details Global developmental delay, Gait disturbance, Abnormal cerebral morphology, Gait imbalance, Postural instability, Frequent falls, Falls, Functional motor deficit, Neurodevelopmental delay, Abnormality of movement Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-05-03 13:56:07 +02:00 (CEST) Date last edited 2022-05-03 17:11:48 +02:00 (CEST)

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