Global Variome shared LOVD
OPA3 (optic atrophy 3 (autosomal recessive, with c...))
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Curators:
Andreas Laner
and
Theresa Neuhann
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Phenotype #0000230673
Individual ID
00303609
Associated disease
SOTOS1
Phenotype details
Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077)
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Domenico Coviello
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Domenico Coviello
Date created
2020-06-17 10:35:42 +02:00 (CEST)
Date last edited
2020-08-19 08:46:22 +02:00 (CEST)
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