Phenotype #0000357042

Individual ID	00472233
Associated disease	DA2B1
Phenotype details	Congenital myastenic syndrome, Neck muscle weakness, Ptosis, Dysphagia, Poor suck, Sudden episodic apnea, Fatigable weakness, Proximal muscle weakness, Frontalis muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, Feeding difficulties, Decreased fetal movement, Difficulty walking, Easy fatigability, Spinal deformities, Motor delay, Dysphonia, Kyphoscoliosis, Spinal rigidity, Stridor, Low-set ears, Gastroesophageal reflux
Diagnosis/Initial	Congenital myastenic syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	Arthrogryposis, distal
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Camille Verebi
Database submission license
Created by	Camille Verebi
Date created	2026-01-19 15:50:08 +01:00 (CET)
Date last edited	2026-02-06 10:21:15 +01:00 (CET)

Global Variome shared LOVD