Details of Disease

General Information of Disease (ID: DISNG85G)

Disease Name Syndromic X-linked intellectual disability Shashi type
Synonyms
intellectual disability X-linked Shashi type; mental retardation X-linked Shashi type; mental retardation, X-linked, syndromic 11; intellectual disability X-linked syndromic 11; mental retardation X-linked syndromic 11; intellectual disability, X-linked, Shashi type; X-linked intellectual disability, Shashi type; intellectual disability, X-linked, syndromic 11; mental retardation, X-linked, Shashi type; MRXS11; intellectual disability, X-linked, syndromic 11, Shashi type; intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive; mental retardation, X-linked, syndromic 11, Shashi type; syndromic X-linked intellectual disability type 11; X-linked mental retardation Shashi type; X-linked intellectual disability Shashi type; Shashi X-linked mental retardation syndrome; Shashi X-linked intellectual disability syndrome; SMRXS
Definition
X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISG1YOH: X-linked syndromic intellectual disability
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISNG85G: Syndromic X-linked intellectual disability Shashi type
Disease Identifiers
MONDO ID
MONDO_0010277
MESH ID
C537135
UMLS CUI
C1846145
OMIM ID
300238
MedGen ID
335348
Orphanet ID
85286

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RBMX OTFZN66E Moderate X-linked [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.