Phenotype #0000342016

Individual ID	00453353
Associated disease	autism
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	syndromic autism, global developmental delay, intellectual disability, muscular dystrophy
Age/Examination	04y (4 years)
Diagnosis/Definite	MDCMC
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	developmental delay, intellectual disability, learning disability, autism, no epilepsy, language/speech delay, no ADHD, repetitive movement and behavior, muscular dystrophy, hypotonia, abnormal gait, no obesity, no 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 12:09:36 +02:00 (CEST)

Global Variome shared LOVD