syndromic recessive X-linked ichthyosis
MONDO:0017264Mondo
Findings
No curated finding names syndromic recessive X-linked ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.
Definition from the Mondo Disease Ontology (MONDO:0017264), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- AphasiaHPOHP:0002381
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Abdominal wall defectHPOHP:0010866
- Occasional (5% to 29% of cases)
- Abnormal abdominal wall morphologyHPOHP:0004298
- Occasional (5% to 29% of cases)
- Abnormal stomach morphologyHPOHP:0002577
- Occasional (5% to 29% of cases)
- Acute leukemiaHPOHP:0002488
- Occasional (5% to 29% of cases)
Show the remaining 9
- AutismHPOHP:0000717
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- HypogonadismHPOHP:0000135
- Occasional (5% to 29% of cases)
- LissencephalyHPOHP:0001339
- Occasional (5% to 29% of cases)
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: syndromic recessive X-linked ichthyosis
- Also called
- recessive X-linked ichthyosis with extracutaneous manifestationssyndrome associated with recessive X-linked ichthyosissyndromic RXLIsyndromic X-linked ichthyosis