FG syndrome Flashcards
1
Q
What are the symptoms of FG syndrome?
A
Severe constipation Hypotonia Small ears Macrocephaly Intellectual disabilities Complete or partial absence of corpus callosum Hyperactivity personality
2
Q
What gene is involved in FG syndrome?
A
MED 12 gene on X chromosome
3
Q
What is the inheritance pattern for FG syndrome?
A
X-linked recessive
4
Q
What is the phenotype for the heterozygous in FG syndrome?
A
The females would be heterozygous
Should not display any symptoms
