X-Linked Intellectual Disability, Miles-Carpenter Type

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

ZC4H2, TWIST1, REM1, SOD2, ASL, PVR, FBXO42, BACE1, CXCL11, CCL11, PODXL, OPN1SW, NOS2, NOS1, CXCL9, IL4R, IFNA6, CYP2D6, CCKBR, CAT, LOC107987479

Drugs

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X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.

Epidemiology

It has been described in four male members of one family.

Clinical description

Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family.

Genetic counseling

Transmission is X-linked and the causative gene has been mapped to Xq13-q22.