RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
This term is obsolete.
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Definition:
A nonsyndromic neurodevelopmental disorder characterized by global developmental delay with variably impaired cognitive development apparent from infancy. Caused by homozygous mutation in the CEP104 gene on chromosome 1p36.