MENTAL RETARDATION, X-LINKED, SYNDROMIC 4

MRXS4

APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY

MCS

MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES

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WIEACKER-WOLFF SYNDROME

Carrier females may show mild features, such as mild contractures, club feet, and intellectual disability [MISCELLANEOUS]

Caused by mutation in the zinc finger C4H2 domain-containing protein gene (ZC4H2, 300897.0001) [MOLECULAR BASIS]

Onset in utero [MISCELLANEOUS]

Two females with large deletions (429 kb and 395 kb) on 11q11.2 that include ZC4H2 as the only known gene have been reported with severe features of Wiecker-Wolff syndrome [MISCELLANEOUS]

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T047

Xq11.2

Phenotype description, molecular basis known.

314580

C0796200

309605

3

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