X-linked intellectual disability, van Esch type
Findings
No curated finding names X-linked intellectual disability, van Esch type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.
Definition from the Mondo Disease Ontology (MONDO:0015601), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
59 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.
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 9 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 47
- Male hypogonadismHPOHP:0000026
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- 1 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Reduced social responsivenessHPOHP:0012760
- Very frequent (80% to 99% of cases)
- Retractile testisHPOHP:0012646
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
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.
- POLA1HGNC:9173
- Definitive · G2P · X-linked · 2019
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: X-linked intellectual disability, van Esch type
- Also called
- mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll typeVan Esch-O'Driscoll syndromeVan Esch-O'Driscoll syndrome, X-linked recessiveVEODS