Phenotype #0000326334

Individual ID	00436153
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	psychomotor delay; motor delay; no speech delay; intellectual disability; mild developmental delay; facial dysmorphism; macrocephaly; abnormal behavior; no autism spectrum disorder; attention deficit-hyperactivity disorder; no stereotyped movements; hypotonia; spastic diplegia; no dysarthria; sleep disorder; no epilepsy; 4y-febrile seizure, one episode; MRI brain white matter involvement, subcortical abnormalities, corpus callosum hypoplasia, no optic chiasm hypoplasia, ventricular enlargement, gyration defects
Inheritance	Familial, autosomal dominant
Age/Examination	15y (15 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 16:52:57 +02:00 (CEST)
Date last edited	2024-02-21 18:22:58 +01:00 (CET)

Global Variome shared LOVD