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1-20 of 28
Keywords: Developmental delay
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Journal Articles
Subject Area:
Genetics
Busra Aynekin, Bahadır M. Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilguvar, Ayten Gulec, Stephanie Efthymiou, Hakan Gumus, Ahmet Okay Caglayan, Huseyin Per
Journal:
Molecular Syndromology
Mol Syndromol (2024)
Published Online: 14 December 2024
...Busra Aynekin; Bahadır M. Samur; Ummu Gulsum Ozgul Gumus; Kaya Bilguvar; Ayten Gulec; Stephanie Efthymiou; Hakan Gumus; Ahmet Okay Caglayan; Huseyin Per Background: Joubert syndrome type 33 (JBTS33) is a rare autosomal recessive disorder characterized by developmental delay, severe renal disease...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–7.
Published Online: 10 December 2024
... by echocardiography. His sibling presented with similar features, including severe developmental delay and dilated cardiomyopathy. Whole-exome sequencing identified a homozygous likely pathogenic c.7645C>T (p.Gln2549Ter) variant in the HERC2 gene. This case report is significant as it describes dilated...
Journal Articles
Subject Area:
Genetics
Aynur Küçükçongar Yavaş, Sümeyra Zeynep Özbey, Bora Ergin, Yasemin Ünal, Berrak Bilginer Gürbüz, Betül Karaatmaca, Hamit Özyürek, Ofcan Oflaz, Hacer Basan, Çiğdem Seher Kasapkara
Journal:
Molecular Syndromology
Mol Syndromol 1–13.
Published Online: 26 November 2024
.... It observed the substitution of histidine, with glutamine, and may affect the stability of protein. Discussion: Homozygous PGAP2 mutations in the patient we reported in our study resulted in a severe clinical picture including severe developmental delay and intellectual disability, severe epilepsy, dysmorphic...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (6): 487–494.
Published Online: 22 May 2024
... Developmental delay Sensorineural hearing loss RMND1 gene Established Facts Mutations in the RMND1 gene cause mitochondrial disease. COXPD11 is an autosomal recessive disorder characterized by deficiencies of multiple respiratory chain complexes, leading to neonatal hypotonia and lactic...
Journal Articles
Subject Area:
Genetics
Çiğdem Seher Kasapkara, Oya Kıreker Köylü, Aysenur Engin Erdal, Burak Yürek, Nesrin Ceylan, Serdar Ceylaner
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (4): 303–310.
Published Online: 23 February 2024
... 5-oxoproline OPLAH gene Epilepsy Developmental delay Macrocephaly Established Facts Decreased 5-oxoprolinase activity that caused by mutations of the 5-oxoprolinase (OPLAH) gene leads to decreased conversion of 5-oxoproline to glutamate, resulting in elevated 5-oxoproline levels...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (6): 537–542.
Published Online: 12 January 2023
... delay. Physical examination revealed prenatal onset short stature, low birth weight, and normal head circumference. She displayed several dysmorphic facial features in addition to developmental delay and bilateral sensorineural hearing loss. The physical findings were suggestive of 3M syndrome. Genetic...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (5): 397–401.
Published Online: 14 March 2022
...Rita Quental; Joana Pires Borges; Helena Santos; Miguel Leão Introduction: Pathogenic variants in HIVEP2 have been associated with a neurodevelopmental disorder mainly characterized by intellectual disability, severe language impairment, and motor developmental delay. Since its first description...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (4): 337–342.
Published Online: 25 February 2022
... with WITKOS demonstrated classic features including mild developmental delay and triangular facies with hypotelorism and deep-set, hooded eyes. This patient supports the currently described phenotype for WITKOS in more diverse populations. [email protected] 11 12 2020 23 09 2021 25 2...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (3): 193–199.
Published Online: 04 January 2022
... mutations in the HPD gene. Although the clinical spectrum of the disease is not fully known, most patients present with neurodevelopmental symptoms. We report on a 20-month-old patient who was investigated due to developmental delay and dysmorphic features. The girl had a novel splice-site mutation...
Journal Articles
Konstantina Kosma, Konstantinos Varvagiannis, Anastasios Mitrakos, Maria Tsipi, Joanne Traeger-Synodinos, Maria Tzetis
Journal:
Molecular Syndromology
Mol Syndromol (2021) 12 (5): 321–326.
Published Online: 22 July 2021
...Konstantina Kosma; Konstantinos Varvagiannis; Anastasios Mitrakos; Maria Tsipi; Joanne Traeger-Synodinos; Maria Tzetis Pathogenic KMT2E variants underly O'Donnell-Luria-Rodan syndrome, a recently described neurodevelopmental disorder characterized by global developmental delay, variable degrees...
Journal Articles
Antonio Gennaro Nicotera, Giulia Spoto, Francesco Calì, Giusi Romeo, Antonino Musumeci, Mirella Vinci, Agata Fiumara, Rita Barone, Gabriella Di Rosa, Sebastiano Antonino Musumeci
Journal:
Molecular Syndromology
Mol Syndromol (2021) 12 (5): 327–332.
Published Online: 20 July 2021
...-P-mannose: Man7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase (mannosyltransferase 8), which determines Man7GlcNAc2-PP-dolichol accumulation in tissues including fibroblasts. The clinical features of ALG12-CDG include dysmorphic features, developmental delay, hypotonia, progressive microcephaly...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2020) 11 (3): 170–175.
Published Online: 09 July 2020
... variant in the HIBCH gene presenting with axial hypotonia, severe developmental delay, and brain lesions in the basal ganglia and provide an overview of the literature. When suspected, newborn and selective screening with tandem mass analyses should include hydroxy-C4-carnitine to diagnose this disorder...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2020) 11 (3): 115–124.
Published Online: 10 April 2020
... years). The patient was referred for genetic testing because of developmental delay and dysmorphism. Chromosomal microarray analysis was performed using CytoScan HD (Thermo Fisher) following the manufacturer's instructions. The analysis identified a 3.1-Mb interstitial deletion in the long arm...
Journal Articles
Surasak Puvabanditsin, Natalie Gengel, Christina Botti, Marianne Jacob, Maaz Jalil, Kenya Cabrera, Rajeev Mehta
Journal:
Molecular Syndromology
Mol Syndromol (2019) 9 (6): 324–327.
Published Online: 20 November 2018
...Surasak Puvabanditsin; Natalie Gengel; Christina Botti; Marianne Jacob; Maaz Jalil; Kenya Cabrera; Rajeev Mehta We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2019) 9 (5): 253–258.
Published Online: 02 October 2018
... with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty...
Journal Articles
Malene Lundsgaard, Vang Q. Le, Anja Ernst, Hans C. Laugaard-Jacobsen, Kirsten Rasmussen, Inge S. Pedersen, Michael B. Petersen
Journal:
Molecular Syndromology
Mol Syndromol (2017) 8 (1): 24–29.
Published Online: 05 November 2016
... based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay. Previous genetic testing (array-CGH, 22q11 deletion, PTPN11 and MLL2 mutation...
Journal Articles
Gabrielle S. Vianna, Mariana L. Freitas, Valdirene T. de Oliveira, Rafaella X. Pietra, Michele da S. Gonçalves, Patrícia P.O. Rocha, Rejane A.C. Monteiro, Luana C.A. Ferreira, Rosana R. Xavier, Andréia M. Carvalho, Patrícia R. de M. Lima, Maria Augusta N.P. Monteiro, Elvis C. Mateo, Juliana G. Giannetti, Giovana da C. César, Joziele de S. Lima, Paula F.V. Medeiros, Fernanda S. Jehee
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (6): 329–336.
Published Online: 01 November 2016
..., instructions or products referred to in the content or advertisements. MLPA Seizures Submicroscopic chromosomal changes Developmental delay Intellectual disability Congenital malformations Chromosomal changes are observed in ∼6% of patients with seizures (SZs), intellectual disability (ID...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (3): 138–143.
Published Online: 23 June 2016
... significant phenotypic overlap with the initially reported patient. All 3 patients have distinct facial features (including mild hypotelorism and subtle mandibular asymmetry), developmental delay, and complex behavioral difficulties. A genotype-phenotype correlation narrows the shared phenotype to a common...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (2): 93–98.
Published Online: 19 April 2016
...Luca Lovrecic; Sara Bertok; Mojca Žerjav Tanšek Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics, hydronephrosis, and hypothyreosis with a de novo deletion of 3p21.31, encompassing 29 OMIM...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (1): 43–48.
Published Online: 16 March 2016
...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Autosomal deletion Blepharophimosis Developmental delay Interstitial 3p deletion Maternal insertion Microphthalmia...
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