FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Rafiq syndrome ID (Ontology) DOID:0081097 (Human Disease)
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.
Also Known As "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15"
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 Rafiq syndrome       1
 for disease ribbon | Rafiq syndrome       1
 model of | Rafiq syndrome       1
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autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__Rafiq syndrome  1 rec.
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Is a autosomal recessive intellectual developmental disorder
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Synonyms
  • "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15" EXACT
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MIM:614202