Global Variome shared LOVD
CHRNA1 (cholinergic receptor, nicotinic, alpha 1 ...))
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Curator:
Johan den Dunnen
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Phenotype #0000036657
Individual ID
00049882
Associated disease
AOS
Phenotype details
short distal phalangus middle finger right hand, symphalangism index finger, symbrachydactyly both feet; truncus arteriosus, ventricular septum defect; growth hormone deficiency, aplasia cutis congenita scalp (HP:0007385)
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2015-09-13 21:44:55 +02:00 (CEST)
Date last edited
2023-03-03 13:48:07 +01:00 (CET)
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