UNC80

unc-80 homolog, NALCN channel complex subunit
OMIM: 612636
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801