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[18] [20] Since its first discovery, there have been many definitions of pacemaker syndrome, and the understanding of the cause of pacemaker syndrome is still under investigation. In a general sense, pacemaker syndrome can be defined as the symptoms associated with right ventricular pacing relieved with the return of A-V and V-V synchrony. [17]
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.
Neurodevelopmental disorders are a group of mental conditions affecting the development of the nervous system, which includes the brain and spinal cord.According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, published in 2013, these conditions generally appear in early childhood, usually before children start school, and can ...
HNRNPH2-related disorder is considered as a neurodevelopmental disorder (NDD) caused by heterozygous mutation in the HNRNPH2 gene on the chromosome Xq22. [ 1 ] [ 2 ] This gene (GenBank: NM_019597.4) [ 3 ] encodes a member of a family of ubiquitous heterogeneous nuclear ribonucleoproteins (HNRNP).
GRIN disorders (also GRIN-related disorders) are a group of neurodevelopmental disorders that result from mutations in genes coding for subunits of an N-methyl-D-aspartate (NMDA) receptor, which leads to dysfunction of glutamate signaling.
GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder that is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.
Heart block (HB) [1] is a disorder in the heart's rhythm due to a fault in the natural pacemaker. [2] This is caused by an obstruction – a block – in the electrical conduction system of the heart. Sometimes a disorder can be inherited.
CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).