Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Genes (Basel)
; 15(4)2024 03 28.
Article
en En
| MEDLINE
| ID: mdl-38674358
ABSTRACT
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep differences. Here, we review previously published individuals with pathogenic ASH1L variants and report three further probands with novel ASH1L variants and previously unreported phenotypic features, including mixed receptive language disorder and gait disturbances. These novel data from the Brain Gene Registry, an accessible repository of clinically derived genotypic and phenotypic data, have allowed for the expansion of the phenotypic and genotypic spectrum of this condition.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
N-Metiltransferasa de Histona-Lisina
/
Trastornos del Neurodesarrollo
Límite:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
Genes (Basel)
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos