Phenotype #0000349779

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00462279
Associated disease	RNS
Phenotype details	see paper; ..., pyriform aperture stenosis; fetus characteristic cerebral hyperechogenicity, hypoplastic nose; craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata
Diagnosis/Initial	pyriform aperture stenosis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RNS
Age/Examination	02y (2 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 13:17:47 +01:00 (CET)
Date last edited	N/A

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