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Developmental Delay, Hypotonia, And Impaired Language

Disease ID: disease_node_16480

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DbxrefMIM:620012
SubclassofDOID_0060307
Data SourceDOID
SynonymsDEDHIL
Doid Labeldevelopmental delay, hypotonia, and impaired language
Doid DescriptionAn autosomal domit 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.
Disease Node Iddisease_node_16480
Doid IdDOID_0070420
LabelDevelopmental Delay, Hypotonia, And Impaired Language