Global Variome shared LOVD
SUGT1P1 (suppressor of G2 allele of SKP1 (S. cerev...))
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Curator:
Global Variome, with Curator vacancy
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Phenotype #0000269348
Individual ID
00374137
Associated disease
?
Diagnosis/Initial
multiple congenital abnormalities
Diagnosis/Definite
-
Phenotype details
22w-fetus, ultrasound Holoprosencephaly; autopsy intrauterine growth retardation, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, hypoplastic phalanges,
Inheritance
Unknown
Age/Examination
<0d
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
2021-05-23 14:43:29 +02:00 (CEST)
Date last edited
N/A
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