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Renpenning syndrome

Synonyms
GOLABI-ITO-HALL SYNDROME; MENTAL RETARDATION, X-LINKED 55; Mental retardation, X-linked Renpenning type; Mental retardation, X-linked, syndromic 8; Renpenning syndrome 1; Sutherland-Haan X-linked mental retardation syndrome; Sutherland-Haan syndrome; X-linked mental retardation syndromic 3; X-linked mental retardation with spastic diplegia
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome. [from OMIM]

Available tests

56 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS, PQBP1
    Summary: polyglutamine binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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