Phenotype #0000232760

Individual ID	00306940
Associated disease	CMT
Phenotype details	height SD -3.41, weight SD -2.95, OFC SD -3.72; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; precocious puberty; high arches, hyperreflexia, spasticity, ataxic and jerking movements of arms and legs, thoracic kyphosis; only walks with a walker; normal electromyogram, normal nerve conduction study; MRI brain abnormal T2 hyperintensity in right cerebral peduncle, cortical atrophy with ventriculomegaly, abnormal signal in right putamen and diffuse, ill-defined white matter hyperintensity
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CMT2Z
Age/Examination	4y2m (4 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-24 12:53:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD