Phenotype #0000318902

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00319854
Associated disease	SHORT
Phenotype details	see paper; ..., short stature, ocular depression, Rieger anomaly, teething delay; facial hirsutism, blue sclera, small upslanting palpebral fissures, hypoplastic alae nasi, full cheeks, thin upper lips, large dysplastic ears, micrognathia
Diagnosis/Initial	SHORT syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	SHORT
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-17 11:45:02 +01:00 (CET)
Date last edited	N/A

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