X-linked intellectual disability, Stevenson type

Orpha code: 85325OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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