Phenotype #0000349771

Individual ID	00462271
Associated disease	RNS
Phenotype details	see paper; ..., pain extremities, osteosclerosis with periosteal bone formation, multiple calcifications in solid organs, midface hypoplasia, exophthalmos, amelogenesis imperfecta, shortening distal phalanges, pectus excavatum, hypophosphatemia due to renal phosphate wasting
Diagnosis/Initial	Raine syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RNS
Age/Examination	39y (39 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-07 11:27:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD