Phenotype #0000270401

Individual ID	00375191
Associated disease	MYOP
Phenotype details	newborn period general muscular hypotonia, facial weakness, muscle tendon reflexes absent, motor development delayed, never gained head control; 1y-feeding problems due to weak suck required gavage feeding; MRI cranial 4y-normal except mildly enlarged CSF space; serum CK-levels normal; 5y-muscle biopsy fiber-type 1 atrophy; 10y-myopathic facies, highly arched palate, severe distal muscle weakness, generalized muscle atrophy, scoliosis, ankle contractures, severely retarded motor and mental development; not able to stand, sit, eat, or drink without support; no speech; early brainstem evoked potentials could not be elicited, otoacoustic emissions normal; neurography showed combined axonal and demyelinating motor neuropathy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-29 21:25:15 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD