PhenoModifier-Disease Detail

Disorder "West syndrome"

Found 4 records

Disorder information

Disorder name:

West syndrome

Disoder ID:

Orphanet_3451

OMIM entry:

OMIM:613722 ,OMIM:616139 ,OMIM:300672 ,OMIM:615006 ,OMIM:308350 ,OMIM:613477 ,OMIM:617065

Synonyms:

West syndrome, Infantile spasms, intellectual disability-hypsarrhythmia syndrome, Intellectual disability - hypsarrhythmia, infantile spasms

Definition:

An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.

Modifier statisitcs

Record:

4

Gene:

1

Variant:

4

Reference:

1

Effect type:

Expressivity(4)

Modifier effect:

Risk factor(4)

Modifier gene	Variant	Effect type	Modifier effect	Evidence	Effect	PubMed ID
CDKL5	CDKL5:c.1403G-C(p.S468T)	Expressivity	Risk factor	Assessment of genotype–phenotype associations and bioinformatics analysis	Complex genotype composed of different combinations of mutations in each patient seems to be related to the phenotype variability.more	28780406 more
	CDKL5:c.2288A-G(p.E763G)	Expressivity	Risk factor	Assessment of genotype–phenotype associations and bioinformatics analysis	Complex genotype composed of different combinations of mutations in each patient seems to be related to the phenotype variability.more	28780406 more
	CDKL5:rs750727784	Expressivity	Risk factor	Assessment of genotype–phenotype associations and bioinformatics analysis	Complex genotype composed of different combinations of mutations in each patient seems to be related to the phenotype variability.more	28780406 more
	CDKL5:rs779041423	Expressivity	Risk factor	Assessment of genotype–phenotype associations and bioinformatics analysis	Complex genotype composed of different combinations of mutations in each patient seems to be related to the phenotype variability.more	28780406 more

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