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Syndromic X-Linked Intellectual Disability Hedera Type

Disease ID: disease_node_13616

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DbxrefMIM:300423, ORDO:93952
SubclassofDOID_0060309
Data SourceDOID
SynonymsMRXE, MRXSH, X-linked mental retardation with epilepsy, mental retardation, X-linked, syndromic, Hedera type
Doid Labelsyndromic X-linked intellectual disability Hedera type
Doid DescriptionA syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
Disease Node Iddisease_node_13616
Doid IdDOID_0060806
LabelSyndromic X-Linked Intellectual Disability Hedera Type