has material basis in germline mutation in NR4A2 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism https://github.com/monarch-initiative/mondo/issues/10029 https://www.malacards.org/card/intellectual_developmental_disorder_with_language_impairment_and_early_onset_dopa_responsive_dystonia_parkinsonism OMIM:619911 A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene. Orphanet:660017 NR4A2-related neurodevelopmental syndrome MONDO:0859257 GARD:0027148 UMLS:C5677001 https://github.com/monarch-initiative/mondo/issues/8071 MEDGEN:1805453 autosomal dominant dopa-responsive dystonia