SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/773274001
http://purl.bioontology.org/ontology/SNOMEDCT/773274001
Preferred Name

X-linked intellectual disability, craniofacioskeletal syndrome

Definitions
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Synonyms
X-linked intellectual disability, craniofacioskeletal syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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