Results 121 to 130 of about 52,839 (293)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
Fatal Neonatal-onset Glutaric Acidemia Type IIc Masquerading as Neonatal Sepsis: A Case Report
Indian Pediatrics Case ReportsBackground: Glutaric acidemia type II (GA-II) is a rare neonatal metabolic disorder that presents with nonspecific features, often posing a diagnostic challenge.
Aayushi Joshi +3 more
doaj +1 more source
, 2012 Hypotonia in infants and children can be a confusing clinical presentation, which often leads to unnecessary investigations. Stepwise and accurate assessment is very important to reach the correct diagnosis. Although specific treatments are not always available, accurate diagnosis is critical to predict the clinical course, associated manifestations ...
openaire +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Healthcare in Low-resource SettingsHPDL gene mutations have recently been linked to neurodevelopmental disorders with variable presentations, ranging from mild hereditary spastic paraplegia to severe infantile neurodegeneration.
Abdullah Musallam Alkhalaf +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
Indian Pediatrics Case ReportsBackground: Spinal muscular atrophy (SMA) is the most common cause of peripheral hypotonia. Due to variable clinical phenotype and severity of the disorder, there is often a diagnostic delay and use of unnecessary and expensive investigations.
Aman Elwadhi +3 more
doaj +1 more source
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Frontiers in PediatricsBackgroundD-Bifunctional protein, also called D-peroxisomal bifunctional enzyme which is encoded by HSD17B4 gene located in chromosome 5q21, catalyzes the second and third steps of preoxisomal β-oxidation of fatty acids and fatty acid derivatives.
Lu Xiong +6 more
doaj +1 more source