WebJul 1, 2024 · CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum - Palmer - 2024 - Clinical Genetics - Wiley Online Library Clinical Genetics SHORT REPORT CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 … WebCHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, …
Table 2 A Case of Congenital Hypotonia and Developmental …
WebArticles. Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions. ... WebOct 19, 2024 · CHEDDA syndrome is a neurodevelopmental disorder previously documented in over 17 unrelated individuals. Compared to other documented CHEDDA syndrome cases, this individual shares similarities in respect to hypotonia, hearing impairment, impaired gross and fine motor ability, gastrointestinal abnormalities, … bradley pearson orthodontist
ATN1 atrophin 1 - NIH Genetic Testing Registry (GTR) - NCBI
WebWe report a case of CHEDDA syndrome identified in a newborn female with congenital anomalies including Pierre–Robin sequence, arthrogryposis, craniosynostosis, cleft palate, and cardiac abnormalities who subsequently developed epilepsy at 1 month of life. WebSep 1, 2024 · Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a recently identified neurodevelopmental syndrome which has only 8 reported cases to date since its existence... WebAlso known as: B37, CHEDDA, D12S755E, DRPLA, HRS, NOD, ATN1 Summary: atrophin 1 Clinical features Help Imported from Human Phenotype Ontology (HPO) Show all Hide all Abnormality of head or neck Abnormality of limbs Abnormality of prenatal development or birth Abnormality of the breast Abnormality of the cardiovascular system habitat for humanity smith county tn