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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3074
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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