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syndromic X-linked intellectual disability 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability 17

MONDO:0010460

Also known as:X-linked intellectual disability with alacrima and achalasiaX-linked mental retardation with alacrima and achalasiaintellectual disability, X-linked, syndromic 17

Overview

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.

GeneticsX-linked

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Absent speech, Global developmental delay, Motor delay, and Intellectual disability and others; and common findings: Anisocoria, Achalasia, and Strabismus. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Absent speech, Global developmental delay, Enlarged brain ventricles (ventriculomegaly)

Diagnosis

Biomarker and diagnostic research for syndromic X-linked intellectual disability 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 very common features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for syndromic X-linked intellectual disability 17.

84 publications have been identified in PubMed for syndromic X-linked intellectual disability 17. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	21	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300858

Orphanet

European rare disease database

Orphanet:289483

GARD

Genetic and Rare Diseases Info Center

GARD:17326

Questions for Your Care Team

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syndromic X-linked intellectual disability 17

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

syndromic X-linked intellectual disability 17

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications