FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic X-linked intellectual disability Siderius type ID (Ontology) DOID:0060812 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.
Also Known As "mental retardation syndrome, X-linked, Siderius type" ; "MRXSSD" ; "Siderius X-linked mental retardation syndrome" (for all, see Synonyms field below)
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 Genes
 syndromic X-linked intellectual disability Siderius type       1
 for disease ribbon | syndromic X-linked intellectual disability Siderius type       1
 model of | syndromic X-linked intellectual disability Siderius type       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__|
                                                syndromic X-linked intellectual disability Siderius type  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "mental retardation syndrome, X-linked, Siderius type" EXACT
    "MRXSSD" EXACT OMO:0003012
    "Siderius X-linked mental retardation syndrome" EXACT
    "Siderius-Hamel syndrome" EXACT
Secondary IDs
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MESH:C537333
MIM:300263
ORDO:85287
UMLS_CUI:C1846055