pathogenic variant

SMOC1 Database – Homepage

Please, take a look to the readnote before proceeding. SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 Pathological Phenotypes: 1 Microphthalmia with limb anomalies OMIM: #206920 Microphthalmia with limb anomalies is caused by homozygous mutations in the SMOC1 gene. Distinctive features are unilateral or bilateral anophthalmia with limb anomalies. Intellectual disabilities is also a common feature. The most

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