Filippi syndrome Flashcards
1
Q
What are the symptoms of Filippi syndrome?
A
Small head Webbed fingers and toes Micrognathia Bone deformities Speech delay and growth delay Intellectual disability
2
Q
What gene is involved in Filippi syndrome?
A
CKAP2L gene
3
Q
What is the phenotype for the heterozygous in Filippi syndrome?
A
The phenotype would be a carrier for disease but display no symptoms
