has material basis in germline mutation in PUM1 monogenic epilepsy autosomal dominant cerebellar ataxia type I Mendelian neurodevelopmental disorder neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism https://github.com/monarch-initiative/mondo/issues/7851 https://www.malacards.org/card/neurodevelopmental_disorder_with_motor_abnormalities_seizures_and_facial_dysmorphism https://www.malacards.org/card/pum1_associated_developmental_disability_ataxia_seizure_syndrome GARD:0027314 Orphanet:589515 Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene. Variable features include early-onset seizures (in most patients) and hypotonia and/or ataxia OMIM:620719. MONDO:0958231 PUM1-associated developmental disability-ataxia-seizure syndrome OMIM:620719