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
Created by	Philippe Campeau