Phenotype #0000021992

Individual ID 00025922
Associated disease HPMRS1;GPIBD2
Phenotype details These siblings share severe mental retardation, epilepsy, anterior displaced anus, and hypoplastic nails. Fetal pads were noted on all fingers and toes. The nail hypoplasia was associated with hypoplasia of the distal phalanx of the fifth finger in the older sibling. Elder sister died suddenly at age 10 years.
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