Phenotype #0000154569

Individual ID 00206699
Associated disease -
Phenotype details hypokalemia, mild learning difficulties, short stature, hypertelorism, low-set ears, hypoplastic mandible, clinodactyly, overriding toes, palatal deformity, LQT. muscle biopsy: myopathic.
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 15y
Age/Onset 15y
Phenotype/Onset attacks of weakness, intermittent chest pain, recurrent palpitations, syncope
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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