Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1994 1
2003 1
2009 1
2013 1
2015 1
2016 3
2017 1
2022 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with dysmorphic facies and variable seizures"
Page 1
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. ...RESULTS: Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, …
BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed …
Sleep disturbance in Mowat-Wilson syndrome.
Evans E, Mowat D, Wilson M, Einfeld S. Evans E, et al. Am J Med Genet A. 2016 Mar;170(3):654-60. doi: 10.1002/ajmg.a.37502. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686679
It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirs …
It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features i …
The clinico-radiological spectrum of Dyke-Davidoff-Masson syndrome in adults.
Ayas ZÖ, Asil K, Öcal R. Ayas ZÖ, et al. Neurol Sci. 2017 Oct;38(10):1823-1828. doi: 10.1007/s10072-017-3074-7. Epub 2017 Jul 21. Neurol Sci. 2017. PMID: 28733757
Dyke-Davidoff-Masson syndrome (DDMS) is characterized by cerebral hemiatrophy, seizure, contralateral hemiplegia/hemiparesis, and mental retardation. ...Two patients had complex partial seizures, three patients had generalized tonic-clonic seizures (GTC), and …
Dyke-Davidoff-Masson syndrome (DDMS) is characterized by cerebral hemiatrophy, seizure, contralateral hemiplegia/hemiparesis, and men …
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
Gokce-Samar Z, de Bellescize J, Arzimanoglou A, Putoux A, Chatron N, Lesca G, Portes VD. Gokce-Samar Z, et al. Eur J Med Genet. 2022 Dec;65(12):104636. doi: 10.1016/j.ejmg.2022.104636. Epub 2022 Oct 7. Eur J Med Genet. 2022. PMID: 36216271 Review.
Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, speech delay and facial dysmorphism. Seizures seem to be scarce, but detailed seizure type descriptions are missing. ...As …
Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, spe …
Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
Rush ET, Stevens JM, Sanger WG, Olney AH. Rush ET, et al. Am J Med Genet A. 2013 Jul;161A(7):1726-32. doi: 10.1002/ajmg.a.35951. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696251 Review.
She was noted as a neonate to have a bilateral cleft lip and cleft palate, abnormal external ears, dysmorphic facies, and moderate to severe hearing loss. She has subsequently shown developmental delay, hyperreflexia, seizures, hyperactivity, and absence of s …
She was noted as a neonate to have a bilateral cleft lip and cleft palate, abnormal external ears, dysmorphic facies, and mode …
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.
Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. Wigby K, et al. Am J Med Genet A. 2016 Nov;170(11):2870-2881. doi: 10.1002/ajmg.a.37688. Epub 2016 Sep 19. Am J Med Genet A. 2016. PMID: 27644018 Free PMC article.
Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). ...However, prenatally diagnosed females are st …
Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorder …
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. Kleyner R, et al. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900361 Free PMC article.
Subsequent exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in ANKRD11, which was validated by Sanger sequencing. This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in ANK …
Subsequent exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in ANKRD11, which was validate …
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S, Soydemir D, Öner TÖ, Karaca E, Özden B, Kurul SH, Bayram E; University of Washington Center for Mendelian Genomics; Coe BP, Nickerson DA, Eichler EE. Cingöz S, et al. Eur J Med Genet. 2022 Jun;65(6):104497. doi: 10.1016/j.ejmg.2022.104497. Epub 2022 Apr 14. Eur J Med Genet. 2022. PMID: 35430327 Free PMC article.
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) is an autosomal recessive multisystem disorder caused by compound heterozygous or homozygous variants in the gene OTUD6B. ...Our findings s …
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) is an …
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
Proud VK, Levine C, Carpenter NJ. Proud VK, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):458-66. doi: 10.1002/ajmg.1320430169. Am J Med Genet. 1992. PMID: 1605226
Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveo …
Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digit …
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Genevieve D, et al. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. doi: 10.1002/ajmg.a.10877. Am J Med Genet A. 2003. PMID: 12476459 Review.
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibrobl …
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary s …
12 results