Phenotype #0000318899

Individual ID	00427954
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRXSR
Inheritance	Familial, X-linked recessive
Phenotype details	see paper; ..., mild developmental delay, mild mental retardation; significant behavioral problems, aggressiveness to others and himself, head banging; significant speech delay; no autistic features; sleep difficulties, disturbances initiating sleep, frequent awakening; normal growth; no dysmorphic features; esotropia; MRI brain 4y-paucity of white matter, patchy white matter hyperintensities on T2 weighted images; brother milder developmental delay
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-17 10:46:53 +01:00 (CET)
Date last edited	2022-12-17 10:52:22 +01:00 (CET)

Global Variome shared LOVD