Global Variome shared LOVD
NRXN1 (neurexin 1)
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Global Variome, with Curator vacancy
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Phenotype #0000271343
Individual ID
00376132
Associated disease
NDD
Diagnosis/Initial
Neurodevelopmental disorder
Diagnosis/Definite
-
Phenotype details
Relative microcephaly, prominent forehead, deep set eyes, asymmetrical nasal tip, raised ear lobe, mild micrognathia, widely spaced teeth, pectus excavatum, clinodactyly of the 5th finger and persistence of finger fetal pads.
Inheritance
Isolated (sporadic)
Age/Examination
05y (5 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Owner name
Pietro Palumbo
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Pietro Palumbo
Date created
2021-06-16 15:41:57 +02:00 (CEST)
Date last edited
2021-06-17 13:23:44 +02:00 (CEST)
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