Phenotype #0000021993

Individual ID 00025923
Associated disease HPMRS1;GPIBD2
Phenotype details Her psychomotor development was considerably delayed. Epilepsy started as early as in
her first year of life which responded well to treatment with valproic acid. Serum alkaline
phosphatase was significantly and constantly elevated. Dysmorphic facial features include
widely spaced eyes with an upward slant of palpebral fissures, a broad nasal bridge and tip,
and a tented upper lip. Her hands and feet show bilateral brachytelephalangy including
small nails. Radiographs of her left hand and left foot disclosed abnormally short distal
phalanges of fingers and toes, respectively.
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