Phenotype #0000232767

Individual ID	00306947
Associated disease	CMT
Phenotype details	height SD -3.34, weight SD -4.08, OFC SD -3.46; motor delay; speech delay; mild/moderate intellectual disability; no facial dysmorphism; no hearing loss; no endocrine anomalies; weakness, decreased muscle bulk, mildly elevated creatine kinase, areflexia, wide based and waddling gait, uses a walker and braces for ambulation, mild kyphosis; axonal motor neuropathy; MRI brain 15m-normal; proximally placed thumbs, hirsutism
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CMT2Z
Age/Examination	5y (5 years)
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