has material basis in germline mutation in GNB1 syndromic intellectual disability intellectual disability, autosomal dominant 42 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6600 https://github.com/monarch-initiative/mondo/issues/7597 https://github.com/monarch-initiative/mondo/issues/8167 https://www.malacards.org/card/global_developmental_delay_neuro_ophthalmological_abnormalities_seizures_intellectual_disability_syndrome https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_42 GNB1-related neurodevelopmental disorder Orphanet:488613 GNB1-related disorder autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1 MEDGEN:934741 MRD42 GARD:0018501 intellectual disability, autosomal dominant 42 MONDO:0014855 UMLS:C4310774 intellectual developmental disorder, autosomal dominant 42 DOID:0070072 autosomal dominant non-syndromic intellectual disability 42 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome OMIM:616973 autosomal dominant intellectual disability 42 mental retardation, autosomal dominant 42 mental retardation, autosomal dominant type 42 intellectual disability, autosomal dominant type 42 ClinGen curators noted that there are syndromic and non-syndromic presentations of this disease. Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males. GNB1 autosomal dominant non-syndromic intellectual disability obsolete neuro-ophthalmological disease monogenic epilepsy autosomal dominant non-syndromic intellectual disability obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome intellectual disability, autosomal dominant