Rafiq syndrome

Summary
Synonym
  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
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.
Super Class
autosomal recessive intellectual developmental disorder
External Links
Disease Ontology
DOID:0081097
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11253 MAN1B1 mannosidase alpha class 1B member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
227619 Man1b1 mannosidase, alpha, class 1B, member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
499751 Man1b1 mannosidase, alpha, class 1B, member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43436 alpha-Man-Ib alpha-Mannosidase class I b
Displaying 1 entry
Gene ID Gene Symbol Description Source
853595 MNS1 mannosyl-oligosaccharide 1,2-alpha-mannosidase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000219 Thin upper lip vermilion
HP:0000256 Macrocephaly
HP:0000268 Dolichocephaly
HP:0000272 Malar flattening
HP:0000276 Long face
HP:0000307 Pointed chin
HP:0000316 Hypertelorism
HP:0000319 Smooth philtrum
HP:0000322 Short philtrum
Displaying 1 entry
Gene ID Gene Symbol Description
11253 MAN1B1 mannosidase alpha class 1B member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024