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Otopalatodigital syndrome type I (OPD1, 311300) is an allelic disorder [MISCELLANEOUS] Periventricular heterotopia (300049) is an allelic disorder [MISCELLANEOUS] Fifty percent of cases secondary to new mutations [MISCELLANEOUS] Otopalatodigital syndrome type II (OPD2, 304120) is an allelic disorder [MISCELLANEOUS] Frontometaphyseal dysplasia (FMD, 305620) is an allelic disorder [MISCELLANEOUS] Males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces [MISCELLANEOUS] Caused by mutation in the filamin A gene (FLNA, 300017.0012) [MOLECULAR BASIS] Affected males who survive are secondary to new mutations [MISCELLANEOUS]
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