SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/718911005
http://purl.bioontology.org/ontology/SNOMEDCT/718911005
Preferred Name

X-linked intellectual disability Stoll type

Definitions
This syndrome has manifestations of intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.
Synonyms
X-linked intellectual disability Stoll type (disorder)
Type http://www.w3.org/2002/07/owl#Class
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