Phenotype #0000343387

Individual ID 00454768
Associated disease MYOP
Phenotype details 11m-not sitting; slowly progressive; walk up to 10 min; mainly manual wheelchair user, able to stand up with assistance, unable to walk; generalised weakness (proximal and distal, upper and lower limbs), facial weakness, ptosis; absent reflexes; talipes at birth; kyphoscoliosis, 12y-surgery, rigid spine (thoraco-lumbar); generalised muscle wasting; bilateral ptosis, ophthalmoplegia; dysphagia; birth respiratory insufficiency, forced vital capacity 0.5 L (0.19), non-invasive ventilation (BiPAP); cleft palate; migraine; mild myopathic changes (in childhood)
Diagnosis/Initial congenital myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 30y-40y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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