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Th-Deficient Dopa-Responsive Dystonia (MONDO:0011551)

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.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0011551

Internal:12648

Synonyms

DYT5b

Dopa-responsive dystonia, autosomal recessive

Segawa syndrome, recessive

Tyrosine Hydroxylase Deficiency

autosomal recessive Segawa syndrome

autosomal recessive dopa-responsive dystonia

dopa-responsive dystonia, autosomal recessive

tyrosine hydroxylase-deficient dopa-responsive dystonia

DOPA responsive dystonia, autosomal recessive

Parkinsonism, infantile, autosomal recessive

Segawa syndrome, autosomal recessive

dystonia, DOPA responsive, autosomal recessive

dystonia, Dopa-responsive, autosomal recessive

Mapped terms

DOID:0051059

GARD:0001902

MEDGEN:382128

NORD:1810

OMIM:605407

Orphanet:101150

SCTID:715827001

UMLS:C2673535

Child terms

Unknown children.

Results

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