Phenotype #0000079477

Individual ID 00101230
Associated disease MDDGB6
Phenotype details 6m-generalized hypotonia, facial weakness, severe motor delay; 14m-independent ambulation started, but lost at 24m; 11y-low weight and height, weakness and generalized muscular wasting, absence of osteotendinous reflexes, and scoliosis on X-ray chest evaluation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y06m (6 months)
Age/Diagnosis >11y
Age/Onset 00y06m
Phenotype/Onset Generalized hypotonia
Protein -
Owner name Miguel Angel Alcántara-Ortigoza
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Miguel Angel Alcántara-Ortigoza
Date created 2017-03-22 02:55:13 +01:00 (CET)
Date last edited 2017-03-22 09:07:02 +01:00 (CET)

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