syndromic X-linked intellectual disability Shashi type
Findings
No curated finding names syndromic X-linked intellectual disability Shashi type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010277), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BlepharophimosisHPOHP:0000581
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- MacroorchidismHPOHP:0000053
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
Show the remaining 4
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Palpebral edemaHPOHP:0100540
- Very frequent (80% to 99% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 4 of 7 reported patients
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RBMXHGNC:9910
- Moderate · Ambry Genetics · X-linked · 2023
- Moderate · PanelApp Australia · X-linked · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
Other names
8 names
Resolves to: syndromic X-linked intellectual disability Shashi type
- Also called
- intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessiveintellectual disability, X-linked, syndromic 11, Shashi typeMRXS11Shashi X-linked intellectual disability syndromeShashi X-linked mental retardation syndromeSMRXSsyndromic X-linked intellectual disability type 11X-linked intellectual disability Shashi type