Phenotype #0000330577

Individual ID 00441138
Associated disease CMT4J
Phenotype details HP:0008947; HP:0001263; HP:0001249; HP:0001284; HP:0001266; HP:0000407; HP:0001271
Diagnosis/Initial hypotonia, global developmental delay, areflexia, dysmorphic features
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4J
Age/Examination 02y (2 years)
Age/Diagnosis 05y
Age/Onset 02y?
Phenotype/Onset -
Protein -
Owner name Guillermo Lay-Son
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Guillermo Lay-Son
Date created 2023-11-07 16:32:00 +01:00 (CET)
Date last edited 2023-11-08 12:11:06 +01:00 (CET)

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