Global Variome shared LOVD

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

Phenotype #0000352216 Individual ID 00466854 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHMS Phenotype details Intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), seizures Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) Age/Diagnosis 09y Age/Onset 00y06m Phenotype/Onset - Owner name Arisha Rasheed Database submission license No license selected Created by Arisha Rasheed Date created 2025-09-24 19:52:53 +02:00 (CEST) Date last edited 2025-09-26 11:00:56 +02:00 (CEST)

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