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Alopecia Contractures Dwarfism Mental Retardation
Amyotrophic Dystonic Paraplegia
Axial Mesodermal Dysplasia Spectrum
Bilateral Striatal Necrosis with Dystonia
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
childhood onset GLUT1 deficiency syndrome 2
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
congenital contractural arachnodactyly
Congenital Contractures, Torticollis, and Malignant Hyperthermia
Congenital Ectodermal Dysplasia with Hearing Loss
congenital limbs-face contractures-hypotonia-developmental delay syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Davenport Donlan Syndrome
deafness-dystonia-optic neuronopathy syndrome
dopamine transporter deficiency syndrome +
dystonia 22, juvenile-onset
dystonia 28 childhood-onset
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
Dystonia with Cerebellar Atrophy
dystonia, DOPA-responsive
early-onset dystonia and/or spastic paraplegia
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 3
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
hereditary spastic paraplegia 18
histiocytosis-lymphadenopathy plus syndrome
hypermanganesemia with dystonia +
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
Leber hereditary optic neuropathy and dystonia
lethal congenital contracture syndrome 3
Leukoencephalopathy with Dystonia and Motor Neuropathy
Mental Retardation Mietens Weber Type
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Miles-Carpenter syndrome +
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
plantar fascial fibromatosis
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rozin Hertz Goodman Syndrome
Segawa Syndrome, Autosomal Recessive
sepiapterin reductase deficiency
Spondylospinal Thoracic Dysostosis
Van den Ende-Gupta syndrome
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
X-linked Emery-Dreifuss muscular dystrophy 1
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