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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2183
This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
It has been described in two males from one family.
An X-linked recessive mode of inheritance was suggested.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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