L1CAM

L1 cell adhesion molecule
OMIM: 308840
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350, SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350, HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000, PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME, PARTIAL AGENESIS OF THE CORPUS CALLOSUM, HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS, SPASTIC PARAPLEGIA X-LINKED TYPE 1
R-numbers: R60
Signed-off version 1.12
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary spastic paraplegia, 308840, MASA syndrome, 303350, X-linked hydrocephalus, 307000
R-numbers: R61
Signed-off version 2.18
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary spastic paraplegia, X-linked hydrocephalus, MASA syndrome, 303350
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Corpus callosum, partial agenesis of, CRASH syndrome, Hydrocephalus due to aqueductal stenosis 307000, Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000, Hydrocephalus with Hirschsprung disease 307000, MASA syndrome, X-linked Hydrocephalus with aqueductal stenosis, Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius, HSAS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hydrocephalus due to aqueductal stenosis, 307000MASA syndrome, 303350CRASH syndrome, 303350Hydrocephalus with Hirschsprung disease, 307000Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000Corpus callosum, partial agenesis of, 304100, MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME (MASA)