Phenotype #0000236377

Individual ID	00311121
Associated disease	MDDG
Phenotype details	onset foetal, progressive; wheelchair bound; left ventricular fractional shortening 25%; no eye anomalies; microcephaly; mild mental retardation; forced vital capacity 0.62; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal upper limb, neck and scapular muscle atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 765 U/L; muscle biopsy dystrophic; EMG normal
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	α-DG deficiency
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-18 13:35:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD