syndromic X-linked intellectual disability Shrimpton type
Findings
No curated finding names syndromic X-linked intellectual disability Shrimpton type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.
Definition from the Mondo Disease Ontology (MONDO:0010409), read 2026-09-29. CC BY 4.0.
Features
5 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.
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
Where it sits
Other names
3 names
Resolves to: syndromic X-linked intellectual disability Shrimpton type
- Also called
- intellectual disability, X-linked, syndromic 9mental retardation, X-linked, syndromic 9MRXS9