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
Created by	Johan den Dunnen
Date created	2021-03-25 11:58:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD