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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
microcephaly, growth deficiency, seizures, and brain malformations
Summary
- Definition
- A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0081051
- Mondo Disease Ontology
- OMIM
