Last Updated: 09/26/2026
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Found 9 publications
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: April 04, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 17, 2023
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Journal: American journal of human genetics
Published: February 13, 2020
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Journal: Molecular autism
Published: June 03, 2019
ALG11-CDG syndrome: Expanding the phenotype.
Journal: American journal of medical genetics. Part A
Published: October 13, 2018
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Journal: Human molecular genetics
Published: June 13, 2017
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
Journal: American journal of medical genetics. Part A
Published: December 05, 2013
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Last Updated: 09/26/2026