OBO ID: DOID:0112194
Term Name: Filippi syndrome Search Ontology:
Synonyms:
  • Scott craniodigital syndrome with mental retardation
  • type 1 syndactyly-microcephaly-intellectual disability syndrome
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 CKAP2L on chromosome 2q14.1. (2)
References:
Ontology: Human Disease   (DOID:0112194)
OTHER Filippi syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CKAP2L Filippi syndrome 272440
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None