WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome. Disease 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.
(PDF) Behavior and cognitive functioning in WitteveenKolk syndrome
Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. Skeletal abnormalities, microcephaly and malformation of the brain are other findings.
Witteveen kolk Syndrome SIN3A
Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is.
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613406 - WITTEVEEN-KOLK SYNDROME; WITKOS To ensure long-term funding for the OMIM project, we have diversified our revenue stream.
(PDF) Nursing Interventions for Colostomy Care in a Child with Witteveen Kolk Syndrome
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).
WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A.We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients.Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties.
Kinderneurologie.eu
Witteveen-Kolk syndrome, 613406, Autosomal dominant; WITKOS (15q24 microdeletion syndrome) (SIN3A gene) (Sequence Analysis-All Coding Exons) (Postnatal) GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR.
AV Facial profiles of patients with a 9q34.3 deletion. Pa Download Scientific Diagram
The Witteveen-Kolk syndrome (WITKOS), caused by defects of the SIN3A gene, is a heterogeneous disorder characterized by distinctive facial features, microcephaly, short stature, delayed cognitive and motor development. Although micropenis and cryptorchidism have been reported in this syndrome, WITKOS has not been formally associated with CHH so.
Three rare disease diagnoses in one patient through exome sequencing
Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. Skeletal abnormalities, microcephaly and malformation of the brain are other findings.
DNA methylation episignature for WitteveenKolk syndrome due to SIN3A haploinsufficiency
Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch-insensitive 3 transcription regulator family member A (SIN3A). Regarding behavioral functioning, Autism Spectrum.
WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild.
WITKOS (WitteveenKolk Syndrome) and what it is YouTube
Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelopmental disorders. In this study, we characterized a distinct DNA methylation epigenetic signature (episignature) distinguishing WITKOS from unaffected.
DNA methylation episignature for WitteveenKolk syndrome due to SIN3A haploinsufficiency
Witteveen-Kolk syndrome (WITKOS) is a neurodevelopmental condition, the first case described in 2016, and is characterized by distinctive facial traits, microcephaly, small height, modest intellectual delay, delayed development, ventriculomegaly, corpus callosal atrophy, cerebellar atrophy on MRI-brain imaging. This condition results from frameshift and missense mutations in switch-insensitive.
WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch‐insensitive 3 transcription regulator family member A ( SIN3A ).
Anterior megalophthalmos in sisters with WitteveenKolk syndrome Journal of American
Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch-insensitive 3 transcription regulator family member A (SIN3A). Regarding behavioral functioning, Autism Spectrum.
(PDF) Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with WitteveenKolk Syndrome
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental.
