Disorder "Rett Syndrome"
Found 1 record
Disorder information
Disorder name:
Rett Syndrome
Disoder ID:
OMIM entry:
Synonyms:
Fetal-maternal hemorrhage, with delivery,Rett's disorder,cerebroatrophic hyperammonemia
Definition:
A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| BDNF | BDNF:c.748G>T(p.Glu168*) | Expressivity | Risk factor | HR=5.3, 95% CI: 1.6-17.7 | Individuals with the p.R168X mutation and heterozygous for the BDNF polymorphism were also at an increased risk of seizure onsetmore | more |
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