Search Ontology:
Human Disease
neurodevelopmental disorder with seizures and impaired intellectual and language development
- Term ID
- DOID:0051071
- Synonyms
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- Definition
- An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23. https://pubmed.ncbi.nlm.nih.gov/41643666/
- References
- Ontology
- Human Disease ( DOID:0051071 )
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Genes Involved
Zebrafish Models