Search Ontology:
Human Disease
Rafiq syndrome
- Term ID
- DOID:0081097
- Synonyms
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- Definition
- An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/29908352/
- References
- Ontology
- Human Disease ( DOID:0081097 )
- is a type of
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Genes Involved
Zebrafish Models