Phenotype #0000021997

Individual ID 00025927
Associated disease HPMRS1;GPIBD2
Phenotype details At birth, features included a tented upper lip. Hands and feet were affected with hypoplasia of the terminal phalanges and missing nails on the second and fifth digits. At 2 years, Moderate to severe intellectual disability, hypotonia and growth delay were noted. Seizures developed after the age of 5 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