Global Variome shared LOVD

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

Phenotype #0000203961 Individual ID 00266184 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details short stature (146cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; low vision Inheritance Familial, autosomal recessive Age/Examination 36y (36 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 2019-10-16 03:19:26 +02:00 (CEST) Date last edited N/A

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