Phenotype #0000342233

Individual ID	00453575
Associated disease	?
Diagnosis/Initial	multisystemic disorder
Diagnosis/Definite	MRMNS
Phenotype details	see paper; ..., onset infancy; decreased body weight (-2.20 SD); no short stature (-0.38 SD); no microcephaly (-0.71 SD); hearing impairment; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; incoordination; not achieved independent ambulation; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-10 19:59:05 +02:00 (CEST)
Date last edited	2024-11-23 09:37:42 +01:00 (CET)

Global Variome shared LOVD