Phenotype #0000254814

Individual ID 00359559
Associated disease TSC2
Diagnosis/Initial -
TSC/Features -
Diagnosis/Definite -
Phenotype details see paper; ..., feeding difficulties; mild-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; >18m-spoken words, 4-5y-short sentences, phonological disorder, childhood apraxia of speech, dysfluencylanguage ability low expressive, language ability moderate-low receptive, language ability low written, language ability moderate-low social
Inheritance Isolated (sporadic)
Age/Examination 7y6m (7 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Angela Morgan
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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