FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Paganini-Miozzo syndrome ID (Ontology) DOID:0111843 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2.
Also Known As "MRXSPM"
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 Genes
 Paganini-Miozzo syndrome       1
 for disease ribbon | Paganini-Miozzo syndrome       1
 model of | Paganini-Miozzo syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                Paganini-Miozzo syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
Part of
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Synonyms
  • "MRXSPM" EXACT OMO:0003012
Secondary IDs
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MIM:301025