has material basis in germline mutation in CHAMP1 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features https://github.com/monarch-initiative/mondo/issues/10739 https://www.malacards.org/card/autosomal_dominant_intellectual_developmental_disorder_40 https://www.malacards.org/card/neurodevelopmental_disorder_with_hypotonia_impaired_language_and_dysmorphic_features intellectual disability, autosomal dominant 40 intellectual developmental disorder, autosomal dominant 40 UMLS:C5676894 mental retardation, autosomal dominant 40 DOID:0070070 CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome GARD:0013539 MONDO:0014699 NEDHILD CHAMP1-related neurodevelopmental disorder Orphanet:692193 mental retardation, autosomal dominant type 40 OMIM:616579 CHAMP1 disorder MRD40 neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features MEDGEN:1810363 An autosomal dominant intellectual disability caused by variation in the CHAMP1 gene. It is characterized by global developmental delay, intellectual disability with severe speech impairment, hypotonia and dysmorphic facial features, often with autism, attention deficit hyperactivity disorder and other behavioral symptoms. intellectual disability, autosomal dominant