X-linked intellectual disability, Stevenson type

Orpha code: 85325OMIM code:

Definicja

X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
85325
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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