Phenotype #0000342013

Individual ID	00453350
Associated disease	autism
Inheritance	Isolated (sporadic)
Diagnosis/Initial	syndromic autism, Rett-like phenotype
Age/Examination	21y (21 years)
Diagnosis/Definite	MRX1
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	developmental delay, intellectual disability, learning disability, autism, no epilepsy, language/speech delay, ADHD, repetitive movement and behavior, anxiety disorder, no muscular dystrophy, no hypotonia, abnormal gait, no obesity, acrophobia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-08-19 11:03:41 +02:00 (CEST)
Date last edited	2024-08-19 11:06:47 +02:00 (CEST)

Global Variome shared LOVD