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fetal akinesia syndrome, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia syndrome, X-linked

MONDO:0010242

Also known as:X-linked form of fetal akinesia syndromeX-linked form of foetal akinesia syndromefetal akinesia syndrome X-linked

Overview

GeneticsX-linked

ResearchLimited published research (4 articles)

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: Polyhydramnios, Reduced movement (hypokinesia), Telecanthus, and Blepharophimosis and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Reduced movement (hypokinesia)
Pregnancy and birth

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 fetal akinesia syndrome, X-linked.

4 publications have been identified in PubMed for fetal akinesia syndrome, X-linked. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Panebianco CJ (2025). [PMID: 41388826](https://pubmed.ncbi.nlm.nih.gov/41388826/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Basic Science / Preclinical]
Leao MB (2025). [PMID: 40152138](https://pubmed.ncbi.nlm.nih.gov/40152138/). *Journal of clinical ultrasound : JCU*. [Review / Meta-Analysis]
Panebianco CJ (2025). [PMID: 40667119](https://pubmed.ncbi.nlm.nih.gov/40667119/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
El Gazzane S (2025). [PMID: 40144631](https://pubmed.ncbi.nlm.nih.gov/40144631/). *Clinical medicine insights. Case reports*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300073

GARD

Genetic and Rare Diseases Info Center

GARD:2293

Questions for Your Care Team

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fetal akinesia syndrome, X-linked

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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