Global Variome shared LOVD

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

Phenotype #0000358897 Individual ID 00474097 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDISHM Phenotype details see paper; ..., moderate intellectual diasbility; speech impairment; developmental delay, wheelchair bound; seizures (generalized tonic–clonic); no ataxia; no tremor; hypotonia; MRI brain normal; no dystonia; no behavioral problems; no dolichocephaly; no torticollis; no prominent eyes; no micrognathia; no flat nasal bridge Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-10 18:52:06 +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.