You are using an outdated browser. Please upgrade your browser to improve your experience.

X-linked intellectual disability, Stoll type

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0019423:  X-linked intellectual disability, Stoll type
Orphanet:85326: 
SCTID:718911005: 
UMLS:CN206179: