Phenotype #0000343390

Individual ID	00454771
Associated disease	MYOP
Phenotype details	delayed motor milestones, 20m-assisted stand, 4y-walk; progression relatively stable; walk alone; motor delay, able to walk, climb stairs with railings; severe peripheral hypotonia and distal weakness; generalised weakness, ptosis, no neck flexor weakness; absent reflexes; mild scoliosis; generalised muscle wasting; ptosis, ophthalmoplegia with mild limitation of upward gaze; mild dysarthria, nasogastric tube feeding, now GT feeding; no respiratory support; left vocal cord palsy; bilateral coxa valga, generalised osteopenia; bilateral undescended testes status postorchidopexy dysmorphic; microcephaly; high arched palate; developmental delay; gastroesophageal reflux disease, swallowing incoordination; constipation; muscle biopsy upper arm type 1 myofiber predominance and mostly type 2 myofiber atrophy, no grouping of myofiber types
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	01y-10y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-26 09:29:23 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD