Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Hypohidrosis
Very frequent (80-99%)HP:0000966
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Cognitive delay
Frequent (30-79%)HP:0001263
Corneal opacity
Frequent (30-79%)HP:0007957
Difficulty finding words
Frequent (30-79%)HP:0002381
Dull intelligence
Frequent (30-79%)HP:0001249
Abnormality of the abdominal wall
Occasional (5-29%)HP:0004298
Abnormality of the stomach
Occasional (5-29%)HP:0002577
Acute blood cancer
Occasional (5-29%)HP:0002488
Autism
Occasional (5-29%)HP:0000717
Congenital anterior abdominal wall defect
Occasional (5-29%)HP:0010866
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased activity of gonads
Occasional (5-29%)HP:0000135
Decreased body height
Occasional (5-29%)HP:0004322
Fewer or absent grooves in brain
Occasional (5-29%)HP:0001339
Renal failure
Occasional (5-29%)HP:0000083
Seizures
Occasional (5-29%)HP:0001250
Testicular seminoma
Occasional (5-29%)HP:0100617
Unilateral renal agenesis
Occasional (5-29%)HP:0000122
Related Conditions
Quick Facts
- SNOMED CT
- 717041008
- UMLS CUI
- C4274085
- Fully Specified Name
- Syndromic recessive X-linked ichthyosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.