Global Variome shared LOVD

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

Phenotype #0000021990 Individual ID 00025920 Associated disease HPMRS1;GPIBD2 Phenotype details Oldest patien twas a 4-year-old girl, her brothers were dizygotic twin brothers of patient 1 and were 18 months old at time of first evaluation. Facial anomalies comprised hypertelorism, large appearing eyes, a short nose with a broad nasal bridge and tip, thin upper lip with down-turned corners of the mouth. Clinically and radiologically, shortness of several distal phalanges could be demonstrated which mainly affected digits II and V. All patients had a severe global developmental delay without any speech development. At two years, patient 2 developed seizures. Older sister had congenital megacolon. Twin brothers presented sensorineural deafness. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2010-11-17 16:14:52 +01:00 (CET) Date last edited N/A

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