syndromic recessive X-linked ichthyosis
ORPHA: 281090
Overview
Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome
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 syndromic recessive X-linked ichthyosis, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayAphasiaAttention deficit hyperactivity disorderCorneal opacityCryptorchidismRenal insufficiencyUnilateral renal agenesisHypogonadismAutismSeizureLissencephalyAcute leukemiaAbnormal stomach morphologyAbnormal abdominal wall morphologyShort statureAbdominal wall defectTesticular seminomaHyperkeratosisHypohidrosisIchthyosis
Classification & Codes
Orphanet Code
ORPHA:281090syndromic recessive X-linked ichthyosis
| Orphanet | ORPHA:281090 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO