Phenotype #0000349769

Individual ID	00462269
Associated disease	RNS
Phenotype details	see paper; ..., underdeveloped midface, flattened forehead, small nose, depressed nasal bridge, anteverted nares, small mouth, narrow palate, epicanthal fold; choanal atresia/stenosis; pectus excavatum, bulbous fingertips; osteosclerosis in the ribs and costovertebral joints; no fractures; intracerebral calcifications; no seizures; hearing loss
Diagnosis/Initial	Raine syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RNS
Age/Examination	01y (1 year)
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-07 11:06:05 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD