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 |
|---|---|---|
| Â | 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 |
| Â | 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 |
| Â | 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 | Â |
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 | Â |