syndromic X-linked intellectual disability 17
Findings
No curated finding names syndromic X-linked intellectual disability 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
Definition from the Mondo Disease Ontology (MONDO:0010460), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
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.
- Absent speechHPOHP:0001344
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- AlacrimaHPOHP:0000522
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
Where it sits
Other names
6 names
Resolves to: syndromic X-linked intellectual disability 17
- Also called
- intellectual disability-alacrima-achalasia syndromeintellectual disability, X-linked, syndromic 17mental retardation, X-linked, syndromic 17mental retardation, X-linked, syndromic 17, X-linked recessivesyndromic X-linked intellectual disability type 17X-linked intellectual disability with alacrima and achalasia