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X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Disease 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.
ORPHA:3055
Classification level: Disorder- Synonym(s):
- Young-Hughes syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Neonatal, Infancy
- ICD-10: Q87.8
- OMIM: -
- UMLS: C0796264
- MeSH: -
- GARD: 345
- MedDRA: -
Detailed information
Professionals
- Emergency guidelines
- Français (2018, pdf)
- Clinical practice guidelines
- Français (2021)
- Practical genetics
- English (2013, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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