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Term:
Segawa Syndrome, Autosomal Recessive
(DOID:9004035)
Annotations:
Rat: (49)
Mouse: (54)
Human: (58)
Chinchilla: (46)
Bonobo: (47)
Dog: (46)
Squirrel: (47)
Pig: (46)
Naked Mole-rat: (44)
Green Monkey: (47)
Parent Terms
Term With Siblings
Child Terms
dystonia
+
Amyotrophic Dystonic Paraplegia
Bilateral Striatal Necrosis with Dystonia
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
deafness-dystonia-optic neuronopathy syndrome
DOPA-responsive dystonia
dopamine transporter deficiency syndrome
+
dystonia 12
dystonia 21
dystonia 22, adult-onset
dystonia 22, juvenile-onset
dystonia 28, childhood-onset
dystonia 30
dystonia 31
dystonia 32
dystonia 33
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
dystonia 9
Dystonia with Cerebellar Atrophy
Dystonia with Ringbinden
early-onset dystonia and/or spastic paraplegia
Episodic Kinesigenic Dyskinesia
+
episodic kinesigenic dyskinesia 3
focal dystonia
+
generalized dystonia
+
glucose transporter type 1 deficiency syndrome 2
hypermanganesemia with dystonia
+
Juvenile-Onset Dystonia
Leber hereditary optic neuropathy and dystonia
Leukoencephalopathy with Dystonia and Motor Neuropathy
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Mitochondrial Dystonia
multifocal dystonia
+
myoclonic dystonia
+
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
Parkinson's disease 14
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Segawa Syndrome, Autosomal Recessive
segmental dystonia
+
sepiapterin reductase deficiency
Siddiqi syndrome
torsion dystonia 17
Synonyms
Exact Synonyms:
Dopa-Responsive Dystonia, Autosomal Recessive ; Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive ; Th-Deficient Drd ; infantile parkinsonism, autosomal recessive ; tyrosine hydroxylase deficiency
Primary IDs:
MESH:C537537
Alternate IDs:
MIM:605407
Xrefs:
NCI:C157158