Phenotype #0000309230

Individual ID	00417857
Associated disease	MYOP
Phenotype details	see paper; ..., slowly progressive dyspnoea over six years, generalised weakness; 38y-30w pregnant respiratory distress, pre-eclampsia; no pre-natal anomalies, no neonatal death; triangular face, no slanting palpebral fissures, ptosis (operated), prognathia (operated), narrow mandible; adult onset respiratory symptoms, diaphragm high domes, respiratory muscle weakness, no pulmonary hypoplasia, adult nocturnal bi-level positive airway pressure support; very mild dysphagia; thoracic kyphoscoliosis; mild proximal muscle weakness; small hands; no hypertrichosis; no renal anomalies
Diagnosis/Initial	respiratory distress, pre-eclampsia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MYODRIF
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-09-27 08:11:58 +02:00 (CEST)
Date last edited	2022-09-27 08:54:23 +02:00 (CEST)

Global Variome shared LOVD