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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Synonyms
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). [from SNOMEDCT_US]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, RDJCSS, SCALD, SDR7C1, RDH11
    Summary: retinol dehydrogenase 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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