X-linked intellectual disability, Stoll type

Orpha code: 85326OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
85326
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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