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cataract-intellectual disability-anal atresia-urinary defects syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract-intellectual disability-anal atresia-urinary defects syndrome

MONDO:0015324

Also known as:Karandikar-Maria-Kamble syndromecataract intellectual disability anal atresia urinary defectscataract mental retardation anal atresia urinary defects

Overview

Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.

Diagnosis

Biomarker and diagnostic research for cataract-intellectual disability-anal atresia-urinary defects syndrome has been reported in the published literature.

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 cataract-intellectual disability-anal atresia-urinary defects syndrome.

282 publications have been identified in PubMed for cataract-intellectual disability-anal atresia-urinary defects syndrome. Kisho has analyzed 105 by research type. Research spans Review / Meta-Analysis (59%), Basic Science / Preclinical (17%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Research summaries	62

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1381

GARD

Genetic and Rare Diseases Info Center

GARD:192

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cataract-intellectual disability-anal atresia-urinary defects syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications