Phenotype #0000154512

Individual ID 00206642
Associated disease -
Phenotype details Electrocardiogram showed enlarged U-waves, wide T–U junction, prolonged QUc interval; periodic paralysis, dysmorphological features comprised short stature, low-set ears, hypertelorism, small mandible, high arched palate, dental anomalies, broad nasal root, fifth-digit clinodactyly
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 62y
Age/Onset 6y
Phenotype/Onset -
Protein -
Owner name Ikuko Takeda
Database submission license No license selected
Created by Ikuko Takeda
Date created 2013-01-18 09:42:08 +01:00 (CET)
Date last edited 2013-01-20 13:20:01 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.