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Quoted phrase not found in phrase index: "Intellectual developmental disorder with ocular anomalies and distinctive facial features"
Page 1
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman AL, Duncan WC, Smith AC. Gropman AL, et al. Pediatr Neurol. 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. Pediatr Neurol. 2006. PMID: 16647992 Review.
The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized …
The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital …
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319
CHIME (Zunich neuroectodermal syndrome) is characterized by ocular Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retardation (intellectual disability), and Ear anomalies, including conductive hearing loss. Mabry [aka hyperphosphatasia ment …
CHIME (Zunich neuroectodermal syndrome) is characterized by ocular Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retarda …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
Our review of the phenotypes of three human disorders caused by WDR37, PACS1, and PACS2 mutations showed a significant overlap of epilepsy, intellectual disability, cerebellar atrophy, and facial features. The present observation of coloboma as …
Our review of the phenotypes of three human disorders caused by WDR37, PACS1, and PACS2 mutations showed a significant overlap of epilepsy, …
Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.
Martín-Rivada Á, Pozo-Román J, Güemes M, Ortiz-Cabrera NV, Pérez-Jurado LA, Argente J. Martín-Rivada Á, et al. Horm Res Paediatr. 2020;93(9-10):567-572. doi: 10.1159/000514280. Epub 2021 Mar 23. Horm Res Paediatr. 2020. PMID: 33756487
A Seckel syndrome spectrum phenotype was present in both siblings, with short stature, severe MCPH, reduced brain volume, and distinctive facial features. They also presented severe intellectual disability, lissencephaly/pachygyria, subependymal …
A Seckel syndrome spectrum phenotype was present in both siblings, with short stature, severe MCPH, reduced brain volume, and distinctive …