Phenotype #0000342239

Individual ID	00453581
Associated disease	?
Diagnosis/Initial	multisystemic disorder
Diagnosis/Definite	MRMNS
Phenotype details	see paper; ..., onset neonatal; decreased body weight (-2.83 SD); short stature (-2.39 SD); microcephaly (-2.37 SD); bilateral sensorineural hearing impairment; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; no incoordination; no poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	6m
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