Phenotype #0000053390

Individual ID 00073656
Associated disease ?
Diagnosis/Initial dysferlinopathy
Diagnosis/Definite -
Phenotype details Motor delay (HP:0001270), Proximal muscle weakness in lower limbs (HP:0008994), Neck flexor weakness (HP:0003722), Difficulty standing (HP:0003698), Mildly elevated creatine phosphokinase (HP:0008180),
Inheritance Familial, autosomal recessive
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset 00y00m
Phenotype/Onset Generalized hypotonia (HP:0001290)
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-15 14:14:26 +02:00 (CEST)
Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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