Search Ontology:
Human Disease

Seckel syndrome 2

Term ID
DOID:0070013
Synonyms
  • microcephalic primordial dwarfism 2
  • SCKL2
  • Seckel-type dwarfism 2
Definition
A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (2)
References
Ontology
Human Disease   ( DOID:0070013 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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