Phenotype #0000349783

Individual ID	00462285
Associated disease	RNS
Phenotype details	see paper; ..., low birth weight, microcephaly, sclerosis of skull, intracranial calcifications, cranial sutures, ridged, fontanelles, delayed closure (large), clover leaf skull, prominent forehead, low set ears, prominent eyes/proptosis, entropion of eyelids, choanal atresia/stenosis, small/short nose, depressed/flat nasal bridge, flat face, mid facial hypoplasia, mandible, general abnormalities, small mandible/micrognathia, hypoplastic maxilla (excluding malar region), open mouth appearance, long philtrum, cleft palate, narrow thorax, lung hypoplasia, hydronephrosis, bowed femur/tibia, osteosclerosis, cortical hyperostosis, wide metaphysic
Diagnosis/Initial	Raine syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RNS
Age/Examination	-
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 14:00:57 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD