Global Variome shared LOVD

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Phenotype #0000254813 Individual ID 00359558 Associated disease TSC2 Diagnosis/Initial - TSC/Features - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., feeding difficulties; moderate intellectual disability; 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; 15-18m-spoken words, 4-5y-short sentences, phonological disorder, childhood apraxia of speech, language ability low expressive, language ability adequate receptive, language ability low written, language ability adequate social Age/Examination 6y1m (6 years, 1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures - Intellectual_dis - Protein - Cognitive/Impairment - Hypertension - Development - 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

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