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Human Disease

Filippi syndrome

Term ID
DOID:0112194
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 the CKAP2L gene on chromosome 2q14.1. (2)
References
Ontology
Human Disease   ( DOID:0112194 )
Relationships
is a type of
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Genes Involved
Zebrafish Models