Phenotype #0000232766

Individual ID	00306946
Associated disease	CMT
Phenotype details	height SD -2.32, weight SD -2.58, OFC SD -0.4; motor delay; speech delay; severe intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; hypotonia, decreased muscle bulk, proximal weakness, areflexia, non-ambulatory; sensory motor axonal neuropathy; MRI brain T2 hyperintensities of the central tegmental tract and superior cerebral peduncles, globus palladi, subthalamic nucleus and substantia nigra; unprovoked episodic deterioration in neurologic symptoms, followed by gradual recovery, frequent respiratory infections
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CMT2Z
Age/Examination	4y10m (4 years, 10 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