Renpenning syndrome

Summary
Synonym
  • Golabi-Ito-Hall syndrome
  • Sutherland-Haan X-linked mental retardation syndrome
  • X-linked intellectual disability due to PQBP1 mutations
  • X-linked intellectual disability, Renpenning type
  • X-linked mental retardation Renpenning type
  • X-linked mental retardation with spastic diplegia
  • syndromic X-linked mental retardation 8
Definition
An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
Super Class
X-linked recessive disease syndromic X-linked intellectual disability
External Links
Disease Ontology
DOID:0060179
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
412 STS steroid sulfatase
2539 G6PD glucose-6-phosphate dehydrogenase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P08842 Steryl-sulfatase
P11413 Glucose-6-phosphate 1-dehydrogenase

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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