Gene Symbol:
L1CAM
HGNC:6470
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Definitive classifications

MASA syndrome
Submitted as: OMIM:303350
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
Submitted as: OMIM:307000
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
X-linked complicated corpus callosum dysgenesis
Submitted as: OMIM:304100
XLR
07/22/2015
Evaluated
11/25/2020
Submitted

Strong classifications

X-linked complicated corpus callosum dysgenesis
Submitted as: OMIM:304100
XL
01/29/2021
Evaluated
03/31/2021
Submitted
MASA syndrome
Submitted as: OMIM:303350
XL
01/29/2021
Evaluated
03/31/2021
Submitted
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
Submitted as: OMIM:307000
XL
01/29/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
Submitted as: Orphanet:2182
XL
09/14/2021
Evaluated
09/14/2021
Submitted
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked complicated corpus callosum dysgenesis
Submitted as: Orphanet:1497
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked complicated spastic paraplegia type 1
Submitted as: Orphanet:306617
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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