- Intellectual disability - sparse hair - brachydactyly
- Nicolaides Baraitser syndrome
- Sparse hair and mental retardation
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Our son was diagnosed with Nicolaides-Baraitser syndrome by targeted exome sequencing. We are interested in all and any further resources and/or information you can provide us, as we are being told that he is only the 45th individual to ever be diagnosed and that only one other individual has the "identical variant" that they found on his sequencing. Click here for answer