Metadata | |
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ID | DOID:0081443 |
Name | Stolerman neurodevelopmental syndrome |
Definition | A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/31124279/, https://pubmed.ncbi.nlm.nih.gov/37196654/ |
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Parent Relationships |
is_a syndrome |