Term Name: | Renpenning syndrome |
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Synonyms: | Golabi-Ito-Hall syndrome, Sutherland-Haan X-linked mental retardation syndrome, syndromic X-linked mental retardation 8, 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 |
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. |
Ontology: | Human Disease [DOID:0060179] ( DOID:0060179 ) |