Gene Symbol:
ASXL3
HGNC:29357
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
18q12.1
Filters:

Definitive classifications

severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
AD
02/23/2018
Evaluated
10/15/2020
Submitted

Strong classifications

severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Submitted as: OMIM:615485
AD
07/22/2015
Evaluated
11/25/2020
Submitted
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Submitted as: OMIM:615485
AD
05/13/2020
Evaluated
05/25/2021
Submitted

Supportive classifications

severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Submitted as: Orphanet:352577
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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