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Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature

Disease ID: disease_node_16374

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DbxrefMIM:618342
SubclassofDOID_0060308
Data SourceDOID
SynonymsIDDBAS
Doid Labelintellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Doid DescriptionAn autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.
Disease Node Iddisease_node_16374
Doid IdDOID_0081265
LabelIntellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature