Search Ontology:
Human Disease

microcephaly, epilepsy, and diabetes syndrome 1

Term ID
DOID:0070830
Synonyms
  • MEDS1
Definition
A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/21835305/
References
Ontology
Human Disease   ( DOID:0070830 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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