Global Variome shared LOVD
ALDH3A2 (aldehyde dehydrogenase 3 family, member A2)
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Curator:
Maximilian Weustenfeld
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Phenotype #0000326327
Individual ID
00436143
Associated disease
RSTS1
Phenotype details
Premature birth, Small for gestational age, Bilateral sensorineural hearing impairment, Microcephaly, Neurodevelopmental delay, Intellectual disability, Delayed speech and language development, Generalized-onset seizure
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
07y (7 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
2023-08-21 15:01:05 +02:00 (CEST)
Date last edited
2023-08-23 10:50:28 +02:00 (CEST)
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