Metadata | |
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ID | DOID:0070420 |
Name | developmental delay, hypotonia, and impaired language |
Definition | An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. https://pubmed.ncbi.nlm.nih.gov/35395208/ |
Xrefs | |
Synonyms |
DEDHIL [EXACT] |
Parent Relationships |