Orphanet: X linked intellectual disability hypogonadism ichthyosis obesity short stature syndrome

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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: -

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

ORPHA:3055

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