Global Variome shared LOVD

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

Phenotype #0000272242 Individual ID 00377052 Associated disease CANPMR Phenotype details Hypotonia, Global developmental delay, Gait disturbance, Myopathic facies, Waddling gait, Steatorrhea, Fat malabsorption, Abnormal muscle tone, Decreased facial expression, Neurodevelopmental delay Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite 6y Age/Examination - 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 2021-06-29 16:34:55 +02:00 (CEST) Date last edited 2021-06-29 18:52:10 +02:00 (CEST)

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