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Keywords: Developmental delay
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Journal Articles
Subject Area:
Genetics
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
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
Journal Articles
Subject Area:
Genetics
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
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...
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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...
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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
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
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...
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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