Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.

Journal of medical case reports - 31 Mar 2026

Semyachkina Alla N, Nikolaeva Ekaterina A, Gritsevskaya Daria Iu, Voinova Victoria Yu, Kuramagomedova Rabiat G, Bochenkov Sergei V, Groznova Olga S, Parfenenko Mariia A, Kalashnikova Olga V, Isupova Evgenia A

Abstract excerpt

BACKGROUND: Hackman-Di Donato syndrome (Online Mendelian Inheritance in Man no. 301,039), caused by mutations of the NKAP gene, located in Xq24, is a rare genetic disorder characterized by a Marfanoid phenotype, intellectual disability, and abnormalities of the musculoskeletal system. This condition has only been described in ten patients and two fetuses, who were identified owing to severe heart defects. All...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Marfan Syndrome

Share to Mutation, Missense

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 41917976
DOI: 10.1186/s13256-026-05984-2
PMCID: PMC13067699

Genes

NKAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report.PMID 41917976Read ↗

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.Semantic proximity Read ↗

[Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].Semantic proximity Read ↗

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.Semantic proximity Read ↗

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSemantic proximity Read ↗

Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.Semantic proximity Read ↗

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.Semantic proximity Read ↗

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.Semantic proximity Read ↗

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.Semantic proximity Read ↗

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.Semantic proximity Read ↗

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.Semantic proximity Read ↗

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.Semantic proximity Read ↗

Marfan syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.