SIN3A-related intellectual disability syndrome

MedGen UID:: 941664
•Concept ID:: CN258628
•: Disease or Syndrome

Synonyms:	WITKOS; Witteveen-Kolk syndrome
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0044699
Orphanet:	ORPHA500163

Definition

A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

SIN3A-related intellectual disability syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- SIN3A-related intellectual disability syndrome
  - Chromosome 15q24 deletion syndrome
  - SIN3A-related intellectual disability syndrome due to a point mutation

Recent clinical studies

Diagnosis

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T
Eur J Hum Genet 2021 Apr;29(4):625-636. Epub 2021 Jan 12 doi: 10.1038/s41431-020-00769-7. PMID: 33437032 Free PMC Article

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SIN3A-related intellectual disability syndrome

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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