Phenotype #0000154537

Individual ID 00206667
Associated disease -
Phenotype details short stature,broad forehead,ocular hypertelorism,small head size,low-set ears, mandibular hypoplasia, clinodactyly of the fifth fingers and toes, quadriparesis with proximal muscle group, hyperreflexia, Babinski's sign,hypokalemia,bigeminy,LQT,depression
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 27y
Phenotype/Onset four-limb weakness
Protein -
Owner name Ikuko Takeda
Database submission license No license selected
Created by Ikuko Takeda
Date created 2013-05-22 12:31:07 +02:00 (CEST)
Date last edited N/A

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