Global Variome shared LOVD

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

Phenotype #0000254811 Individual ID 00359556 Associated disease TSC2 Diagnosis/Initial - TSC/Features - Diagnosis/Definite - Phenotype details see paper; ..., feeding difficulties; speech therapy; fine motor ability Mod. Low (Vineland Adaptive Behaviour Scale); gross motor ability Mod. Low (Vineland Adaptive Behaviour Scale); receives occupational therapy, receives physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; spoken words not yet achieved, short sentences not yet achieved, minimally verbal, childhood apraxia of speech, language ability low expressive, language ability moderate-low receptivelanguage ability adequate social Inheritance Isolated (sporadic) Age/Examination 2y11m (2 years, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Angela Morgan Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-25 11:58:20 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.