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Table 1 Children with autism and associated developmental abnormalities

From: Novel copy number variants in children with autism and additional developmental anomalies

Individual ID Phenotype of Affected Children Sibling Status
  Ocular Sub-Phenotypes
AU033403 Autism, micropthalmia, syndactyly, MR Affected MZ twin, no syndromic features
AU1334302 Broad Spectrum, micropthalmia, MR Affected brother, no syndromic features
AU027505 Autism, micropthalmia Affected brother, no syndromic features
AU1376302 Autism, Iris coloboma Affected brother, no syndromic features
  Cranio-facial Sub-Phenotypes
AU021903 Autism, Soto Syndrome, MR Two affected brothers, no syndromic features
AU005303 Autism, alopecia areata Affected brother, no syndromic features
AU008404 Autism, trigonocephaly Affected brother, no syndromic features
AU028905 Autism, fused baby teeth Affected brother, no syndromic features
AU0875301 Autism, fused baby teeth Affected brother, no syndromic features
AU1437302 Autism, cleft lip and palate Affected brother, no syndromic features
  Limb/Skeletal Sub-Phenotypes
AU067703 Autism, adducted thumbs, seizures, MR Affected brother, no syndromic features
AU059003 AU059004 Both affected children diagnosed with autism, syndactyly of toes 2,3 and 4  
AU067208 Autism, syndactyly of toes 2,3 and 4 Affected brother, no syndromic features
AU010903 Autism Spectrum, syndactyly of toes 2,3 and 4 Affected brother, fifth finger clinodactyly
AU072004 AU072005 Both affected children diagnosed with autism, fused ribs  
  1. *All samples listed have been tested by Karyotype and Fragile X testing