retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
MeSH: C564841ORPHA: 3085
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismPolycystic ovariesCoarse facial featuresSensorineural hearing impairmentVisual impairmentCataractNystagmusGynecomastiaHypergonadotropic hypogonadismHyperinsulinemiaSecondary amenorrheaAcanthosis nigricansDry skinBrachydactylyIntellectual disabilityCerebellar atrophyObesityBroad footShort toeDelayed skeletal maturationKyphosisHyperlordosisShort statureType II diabetes mellitusAbnormal retinal pigmentationDecreased testicular sizeKeloids
Classification & Codes
MeSH Code
C564841Orphanet Code
ORPHA:3085retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
| MeSH | C564841 |
| Orphanet | ORPHA:3085 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO