Phenotype #0000154527

Individual ID 00206657
Associated disease -
Phenotype details cleft palate, short stature, distinctive craniofacial dysmorphism, broad forehead, mild facial asymmetry, downslanting palpebral fissures, thin upper lip, long nose, dental anomalies, high arch palate, proximal weakness of lower limbs, hypokalemic, U wave
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 31y
Age/Onset 20y
Phenotype/Onset painful cramps
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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