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GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability Shashi type

Syndromic X-linked intellectual disability Shashi type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11; Mental retardation X-linked Shashi type; Mental retardation X-linked syndromic 11; SHASHI X-LINKED MENTAL RETARDATION SYNDROME
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

The Shashi type of X-linked syndromic intellectual developmental disorder (MRXSSH) is characterized by moderately impaired intellectual development and distinctive craniofacial skeletal structure and dysmorphism (Shashi et al., 2015). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HNRNPG, HNRPG, MRXS11, MRXSG, MRXSH, RBMXP1, RBMXRT, RNMX, hnRNP-G, RBMX
    Summary: RNA binding motif protein X-linked

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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