Global Variome shared LOVD

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

Phenotype #0000351835 Individual ID 00466473 Associated disease ML4 Phenotype details Vitreoretinopathy, Delayed speech and language development, Hearing impairment, Hypotonia, Motor delay, achlorhydria, anaemia, Diagnosis/Initial Motor delay and strabism Inheritance Familial, autosomal recessive Diagnosis/Definite Mucolipidosis IV Age/Examination 1y 8 months Age/Diagnosis 03y Age/Onset 1y 8 months Phenotype/Onset Chilhood onset Protein - Owner name Maria Elena García Paya Database submission license Creative Commons Attribution 4.0 International Created by Maria Elena García Paya Date created 2025-09-08 09:32:28 +02:00 (CEST) Date last edited 2025-09-08 11:40:12 +02:00 (CEST)

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