Global Variome shared LOVD
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Phenotype #0000273210
Individual ID
00378068
Associated disease
NS1
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
Abnormal palate morphology, High palate, Microcephaly, Deeply set eye, Aplasia/Hypoplasia of the cerebrum, Abnormality of higher mental function, Decreased head circumference, Cognitive impairment, Abnormality of globe location
Inheritance
Unknown
Age/Examination
04y (4 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2021-08-04 09:43:59 +02:00 (CEST)
Date last edited
2021-08-06 18:35:17 +02:00 (CEST)
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