Gene Symbol:
HEPACAM
HGNC:26361
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q24.2
Filters:

Macrocephaly-autism syndrome classifications

macrocephaly-autism syndrome
Submitted as: Orphanet:210548
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Megalencephalic leukoencephalopathy with subcortical cysts classifications

megalencephalic leukoencephalopathy with subcortical cysts
Submitted as: Orphanet:2478
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Megalencephalic leukoencephalopathy with subcortical cysts 2A classifications

megalencephalic leukoencephalopathy with subcortical cysts 2A
Submitted as: OMIM:613925
AR
04/04/2022
Evaluated
08/19/2023
Submitted
megalencephalic leukoencephalopathy with subcortical cysts 2A
Submitted as: OMIM:613925
AR
04/09/2020
Evaluated
11/30/2023
Submitted
megalencephalic leukoencephalopathy with subcortical cysts 2A
AR
01/12/2023
Evaluated
04/21/2024
Submitted

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability classifications

megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Submitted as: OMIM:613926
AD
04/19/2021
Evaluated
11/30/2023
Submitted
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Submitted as: OMIM:613926
AD
04/04/2022
Evaluated
08/19/2023
Submitted
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
AD
01/12/2023
Evaluated
04/21/2024
Submitted

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