Phenotype #0000326339

Individual ID	00436158
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	psychomotor delay; motor delay; speech delay; moderate developmental delay; no facial dysmorphism; no abnormal behavior; no autism spectrum disorder; no attention deficit-hyperactivity disorder; no stereotyped movements; hypotonia; no spasticity; no dysarthria; no sleep disorder; no epilepsy; no seizures; EEG normal
Inheritance	Familial, autosomal dominant
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Marcello Scala
Database submission license
Created by	Marcello Scala
Date created	2023-08-29 17:05:33 +02:00 (CEST)
Date last edited	2024-02-21 18:25:12 +01:00 (CET)

Global Variome shared LOVD