Global Variome shared LOVD

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Phenotype #0000254817 Individual ID 00359562 Associated disease TSC2 Diagnosis/Initial - TSC/Features - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., no feeding difficulties; severe intellectual disability; speech therapy; fine motor ability Low (Vineland Adaptive Behaviour Scale); fine motor ability adequate; receives no occupational therapy, receives no 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 low written Age/Examination 13y5m (13 years, 5 months) 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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