Global Variome shared LOVD
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Phenotype #0000037061
Individual ID
00050449
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
microcephaly, delayed speech and language development, global developmental delay, intrauterine growth retardation, abnormality of the palmar creases, astigmatism, amblyopia, abnormality of the skeletal system, constipation, cleft soft palate
Inheritance
Isolated (sporadic)
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Tumor/MSI
-
Diagnosis/Criteria
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2015-09-27 16:16:40 +02:00 (CEST)
Date last edited
N/A
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