FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term female-restricted syndromic X-linked intellectual disability 99 ID (Ontology) DOID:0112025 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4.
Also Known As "female-restricted syndromic X-linked mental retardation 99" ; "MRXS99F" ; "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"
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 Genes
 female-restricted syndromic X-linked intellectual disability 99       1
 for disease ribbon | female-restricted syndromic X-linked intellectual disability 99       1
 model of | female-restricted syndromic X-linked intellectual disability 99       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked dominant disease___________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                female-restricted syndromic X-linked intellectual disability 99  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked dominant disease
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Synonyms
  • "female-restricted syndromic X-linked mental retardation 99" EXACT
    "MRXS99F" EXACT OMO:0003012
    "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" EXACT
Secondary IDs
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GARD:13638
MIM:300968