Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-09-26 09:29:23 +02:00 (CEST) Date last edited N/A

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