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Helsmoortel-Van Der Aa Syndrome

Disease ID: disease_node_16499

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DbxrefMIM:615873
SubclassofDOID_0060307
Data SourceDOID
SynonymsHVDAS, MRD28, autosomal dominant mental retardation 28
Doid LabelHelsmoortel-Van Der Aa Syndrome
Doid DescriptionAn autosomal domit intellectual developmental disorder that has_material_basis_in an autosomal domit mutation of the ADNP gene on chromosome 20q13.13.
Disease Node Iddisease_node_16499
Doid IdDOID_0070058
LabelHelsmoortel-Van Der Aa Syndrome