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

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.

Neurogenetics - 26 Nov 2024

Pan Hu, He Mei, Luo Xuan, Hu Juanli, Mao Xiao, Cheng Yong, Liu Zhen

Abstract excerpt

Biallelic variants in SHMT2 cause neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described metabolic disorder are characterized by severe intellectual disability, microcephaly, spastic paraplegia, peripheral neuropathy, corpus callosum dysgenesis, facial and limb deformities, and progressive hypertrophic cardiomyopathy. Herein we...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Glycine Hydroxymethyltransferase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Intellectual Disability

Share to Mutation, Missense

Share to Neurodevelopmental Disorders

Share to Phenotype

Source

Identifiers

PMID: 39589606
DOI: 10.1007/s10048-024-00784-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.PMID 39589606Read ↗

Mild Neurodevelopmental Disorder Due to SHMT2 Mutations: Expanding the Phenotypic SpectrumSemantic proximity Read ↗

Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.Semantic proximity Read ↗

Novel Pathogenic Variant in a Mild Case of Type B Molybdenum Cofactor Deficiency: Case Report and Literature ReviewSemantic proximity Read ↗

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.Semantic proximity Read ↗

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.Semantic proximity Read ↗

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.Semantic proximity Read ↗

Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.Semantic proximity Read ↗

Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant.Semantic proximity Read ↗

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.Semantic proximity Read ↗

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.Semantic proximity Read ↗

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.Semantic proximity Read ↗

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