FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Renpenning syndrome ID (Ontology) DOID:0060179 (Human Disease)
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.
Also Known As "Golabi-Ito-Hall syndrome" ; "Sutherland-Haan X-linked mental retardation syndrome" ; "syndromic X-linked mental retardation 8" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Renpenning syndrome       5      4      1
 ameliorates | Renpenning syndrome       2       --       --
 for disease ribbon | Renpenning syndrome       --       1       --
 model of | Renpenning syndrome       3      1       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                Renpenning syndrome  10 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
Part of
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Synonyms
  • "Golabi-Ito-Hall syndrome" EXACT
    "Sutherland-Haan X-linked mental retardation syndrome" EXACT
    "syndromic X-linked mental retardation 8" EXACT
    "X-linked intellectual disability due to PQBP1 mutations" EXACT
    "X-linked intellectual disability, Renpenning type" EXACT
    "X-linked mental retardation Renpenning type" EXACT
    "X-linked mental retardation with spastic diplegia" EXACT
Secondary IDs
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ICD10CM:Q87.5
MIM:309500
ORDO:3242