This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Designation Type
PHIN Preferred Term Flag
Code Flag
3315147012
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome