SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/718900002
http://purl.bioontology.org/ontology/SNOMEDCT/718900002
Preferred Name

Syndromic X-linked intellectual disability type 11

Definitions
This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.
Synonyms
Syndromic X-linked intellectual disability type 11 (disorder)
X-linked intellectual disability Shashi type
Type http://www.w3.org/2002/07/owl#Class
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