Global Variome shared LOVD
GLTSCR1 (glioma tumor suppressor candidate region g...)
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Global Variome, with Curator vacancy
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Phenotype #0000308039
Individual ID
00416272
Associated disease
del 1p36
Diagnosis/Initial
1p36 deletion syndrome
Diagnosis/Definite
-
Phenotype details
feeding difficulty; patent ductus arteriosus, ventricular septal defect; microcephaly, hypertelorism, prominent ears, depressed/flat nasal bridge, short neck, wide-spaced nipples, sacral dimple/sinus, proximally-set halluces; hiatal hernia
Inheritance
Isolated (sporadic)
Age/Examination
1m
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2022-08-26 10:31:45 +02:00 (CEST)
Date last edited
N/A
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