X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Findings
No curated finding names X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
Definition from the Mondo Disease Ontology (MONDO:0017614), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the testesHPOHP:0010468
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
Show the remaining 6
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Frequent (30% to 79% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Occasional (5% to 29% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Occasional (5% to 29% of cases)
- Hernia of the abdominal wallHPOHP:0004299
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- Also called
- Young-Hughes syndrome