X-linked intellectual disability, Stoll type
X-linked intellectual disability Stoll type is characterised by 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
X-linked intellectual disability, Stoll type?
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