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 InternationalCreative Commons License
Created by Philippe Campeau