Phenotype #0000021239

Individual ID	00025127
Associated disease	NEDDSBA;MRT42;GPIBD9
Phenotype details	The patients had global developmental delay, hand and foot tremors, and spasticity. The older brother could walk with support. Both had increased deep tendon reflexes. The older brother had prominent cortical sulci and widened sylvian fissures; the younger brother had agenesis of the corpus callosum, cerebellar vermis hypoplasia, and defective myelination. The older brother had borderline intelligence.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2014-12-05 17:18:44 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD