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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 21091464 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.