Search Ontology:
Human Disease

KINSSHIP syndrome

Term ID
DOID:0112383
Synonyms
  • AFF3-related mesomelic dysplasia
  • KINS
  • Steichen-Gersdorf type mesomelic dysplasia
Definition
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (2)
References
Ontology
Human Disease   ( DOID:0112383 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models