Search Ontology:
Human Disease

microcephaly, epilepsy, and diabetes syndrome 2

Term ID
DOID:0070831
Synonyms
  • MEDS2
Definition
A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous mutation in the YIPF5 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/33164986/
References
Ontology
Human Disease   ( DOID:0070831 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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