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- Bdf5a9f1def0d6e529ffe08a6587dd1c9 hasDbXref "NCIT:C133743" @default.
- Bdf5a9f1def0d6e529ffe08a6587dd1c9 type Axiom @default.
- Bdf5a9f1def0d6e529ffe08a6587dd1c9 annotatedProperty IAO_0000115 @default.
- Bdf5a9f1def0d6e529ffe08a6587dd1c9 annotatedSource MONDO_0012400 @default.
- Bdf5a9f1def0d6e529ffe08a6587dd1c9 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." @default.