OBO ID: DOID:0112194 |
Term Name: | Filippi syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0112194 ) |
OTHER Filippi syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.