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

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

American journal of medical genetics. Part A - 1 Dec 2020

Loddo Sara, Alesi Viola, Radio Francesca Clementina, Genovese Silvia, Di Tommaso Silvia, Calvieri Giusy, Orlando Valeria, Bertini Enrico, Dentici Maria Lisa, Novelli Antonio, Dallapiccola Bruno

Abstract excerpt

Variants in PPP1R21 were recently found to be associated with an autosomal recessive intellectual disability syndrome in 9 individuals. Our patient, the oldest among the known subjects affected by PPP1R21-related syndrome, manifested intellectual disability, short stature, congenital ataxia with cerebellar vermis hypoplasia, generalized hypertrichosis, ulcerative keratitis, muscle weakness, progressive coarse...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nervous System Malformations

Share to Pedigree

Share to Protein Phosphatase 1

Share to Syndrome

Source

Identifiers

PMID: 32985083
DOI: 10.1002/ajmg.a.61889

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.PMID 32985083Read ↗

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.Semantic proximity Read ↗

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.Semantic proximity Read ↗

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.Semantic proximity Read ↗

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.Semantic proximity Read ↗

PPP2R1A-Related Neurodevelopmental Disorder: The First Korean Case with a Novel Variant of PPP2R1A and Literature Review.Semantic proximity Read ↗

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Semantic proximity Read ↗

Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.Semantic proximity Read ↗

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.Semantic proximity Read ↗

YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits.Semantic proximity Read ↗

Homozygous PTRHD1 Mutation in Intellectual Disability and Atypical Parkinsonism.Semantic proximity Read ↗

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular ConsequencesSemantic proximity Read ↗

Association of PRPS1 Mutations with Disease Phenotypes.Semantic proximity Read ↗

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