Global Variome shared LOVD

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

Phenotype #0000346485 Individual ID 00458036 Associated disease ? Diagnosis/Initial - Diagnosis/Definite MMDS9B Phenotype details see paper; ..., no hearing impairment; optic atrophy; hypotonia; global developmental delay, developmental regression, non-ambulatory; MRI brain bilateral optic atrophy; no infection related deterioration; retinal dystrophy, strabismus Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 5m 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 2024-11-25 22:17:59 +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.