Phenotype #0000154558

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00206688
Associated disease	-
Phenotype details	obesity, increased cervical perimeter, weakness of proximal limb muscle, micrognathia, retrognathia, clinodactyly of foruth and fifth fingers, short stateure, arched palate, thoracic scoliosis, normokalemia, LQT, sleepapnea,
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	periodic paralysis
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.