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Syndromic X-Linked Intellectual Disability Type 10

Disease ID: disease_node_13613

Connections displayed (default: 10).
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DbxrefICD10CM:G25.5, MIM:300438, ORDO:85295
SubclassofDOID_0060309
Data SourceDOID
SynonymsHSD10 deficiency, atypical type, HSD10 disease, atypical type, MRXS10, X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome, mental retardation, X-linked syndromic 10
Doid Labelsyndromic X-linked intellectual disability type 10
Doid DescriptionA syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
Disease Node Iddisease_node_13613
Doid IdDOID_0060810
LabelSyndromic X-Linked Intellectual Disability Type 10