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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase |
