From Alien-Looking Skeleton Poses Medical Mystery:
DNA and other tests suggest the individual was a human and was 6 to 8 years of age when he or she died. Even so, the remains were just 6 inches (15 centimeters) long.
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... every nucleotide I've been able to look at is human
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The data from the mitochondrial DNA alleles point toward "the mother being an indigenous woman from the Chilean area of South America,"
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The jury is still out on the mutations that caused the deformities, and the researchers aren't certain how old the bones are, though they estimate the individual died at least a few decades ago.
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"There is no known form of dwarfism that accounts for all of the anomalies seen in this specimen,"
Here is Dr. Nolan's preliminary report on his analysis of the body: Chile Specimen.
As represented by a specialist in pediatric human bone and growth disorders (see attached report), the 6 inch specimen is a human that was likely 6-8 years of age at the time of death (age based on epiphyseal plate X-Ray density standards).
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The DNA was of high quality, showing little to no serious degradation.
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Reconstruction of the mitochondrial DNA sequence and analysis shows an allele frequency consistent with a B2 haplotype group found on the west coast of South America, supporting the claimed origination of the specimen from the Atacama Desert region of Chile. Sequence analysis definitively rules out the specimen as an example of a New World primate.
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[I]f there is a genetic basis for the symptoms observed in the specimen the casual mutation(s) are not apparent at this level of resolution and at this stage of the analysis. As the current list of human disorders is far from complete and many human disorders are polygenic, there might remain to be found a combination of mutations working in concert that lead to the observed defect(s).
