has characteristic has characteristic has material basis in germline mutation in TH Autosomal recessive inheritance autosomal recessive disease TH-deficient dopa-responsive dystonia https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/segawa_syndrome_autosomal_recessive MEDGEN:382128 tyrosine hydroxylase-deficient dopa-responsive dystonia dopa-responsive dystonia, autosomal recessive Dopa-responsive dystonia, autosomal recessive SCTID:715827001 MONDO:0011551 dystonia, Dopa-responsive, autosomal recessive UMLS:C2673535 GARD:0001902 DOPA responsive dystonia, autosomal recessive autosomal recessive Segawa syndrome Tyrosine Hydroxylase Deficiency Orphanet:101150 NORD:1810 dystonia, DOPA responsive, autosomal recessive OMIM:605407 Segawa syndrome, autosomal recessive Segawa syndrome, recessive DOID:0051059 autosomal recessive dopa-responsive dystonia Parkinsonism, infantile, autosomal recessive Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. DYT5b dopa-responsive dystonia disorder of tyrosine metabolism tyrosine hydroxylase deficiency hereditary neurological disease