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Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
BackgroundGlobal developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may...
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ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay
The cause of epilepsy with or without developmental disorders was unidentified in a significant proportion of patients. Whole exome sequencing was...
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A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, the genetic spectrum of...
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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived...
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A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish
BackgroundUbiquitin-related rare diseases are generally characterized by developmental delays and mental retardation, but the exact incidence or...
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Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
PurposeSideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic...
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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Nine out of 19 genes encoding GABA A receptor subunits have been linked to monogenic syndromes characterized by seizures and developmental disorders....
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Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female...
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The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe
BackgroundResearch indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopment at follow-up,...
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Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review
CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases...
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Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia
Ribonuclease inhibitor 1, also known as angiogenin inhibitor 1, encoded by RNH1 , is a ubiquitously expressed leucine-rich repeat protein, which is...
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A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
ANO3 encodes Anoctamin-3, also known as TMEM16C, a calcium-activated chloride channel. Heterozygous variants of ANO3 can cause dystonia 24, an...
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Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review
Background and PurposeSideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare...
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A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
The PIGO gene encodes the GPI-ethanolamine phosphate transferase 3, which is crucial for the final synthetic step of the...
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Sleep and social–emotional problems in preschool-age children with developmental delay
Sleep problems and social–emotional (SE) problems are common in preschooler children and may be affected by culture. However, little is known about...
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A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
BackgroundPathogenic PAK1 variants were described to be causative of neurodevelopmental disorder with macrocephaly, seizures, and speech delay....
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Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems
Microarray-based comparative genomic hybridization (aCGH) is being increasingly applied to delineate novel genomic disorders and related syndromes in...
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The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis
Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly...
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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Biallelic variants in ZNF142 at 2q35, which encodes zinc-finger protein 142, cause neurodevelopmental disorder with seizures or dystonia. We...
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Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search
BackgroundThe interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The...
