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X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

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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

Source: PubMed ID 7175926

Prevalence: <1 / 1 000 000

Inheritance: X-linked recessive

Age of onset: Infancy, Neonatal

ICD-10: Q87.8

UMLS: C0796264

MeSH: C536715

GARD: 345

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2018.pdf) - Orphanet Urgences
Clinical practice guidelines
Disease review articles
Clinical genetics review
English (2013.pdf) - Eur J Hum Genet
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