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Abetalipoproteinemia Neuropathy
adult-onset ataxia and polyneuropathy
Ataxia with Fasciculations
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Ataxia, Deafness, and Cardiomyopathy
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Ataxia-Microcephaly-Cataract Syndrome
Atonic-Astatic Syndrome of Foerster
autosomal recessive pericentral pigmentary retinopathy
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia
Bhaskar Jagannathan Syndrome
Bork Stender Schmidt Syndrome
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Chang Davidson Carlson Syndrome
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Chromosome Xp11.3 Deletion Syndrome
coenzyme Q10 deficiency disease +
Concentric Annular Macular Dystrophy
Cone Rod Dystrophy Amelogenesis Imperfecta
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness Hyperuricemia Neurologic Ataxia
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
dominant pericentral pigmentary retinopathy
familial isolated deficiency of vitamin E
Furukawa Takagi Nakao Syndrome
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
hypomyelinating leukodystrophy 7
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
isolated microphthalmia 5
late-adult onset retinitis pigmentosa
Leber congenital amaurosis 14
Leber congenital amaurosis 3
Leukoencephalopathy with Ataxia
Macular Dystrophy with Central Cone Involvement
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Mirhosseini-Holmes-Walton Syndrome
Mitochondrial Myopathy, and Ataxia
multiple congenital anomalies-hypotonia-seizures syndrome 3
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with eye movement abnormalities and ataxia
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
Newfoundland cone-rod dystrophy
Oliver-McFarlane syndrome
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Peripheral Cone Dystrophy
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Pigmentary Retinopathy and Sensorineural Deafness
Posterior Column Ataxia with Retinitis Pigmentosa
progressive myoclonus epilepsy 1B
Progressive Pallidal Degeneration with Retinitis Pigmentosa
Radioulnar Synostosis Retinal Pigment Abnormalities
Reardon Wilson Cavanagh Syndrome
retinal cone dystrophy 3A
retinal cone dystrophy 3B
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
retinitis pigmentosa Y-linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinitis Pigmentosa, Late-Onset Dominant
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Sensory Ataxia, Autosomal Dominant
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
short-rib thoracic dysplasia 9 with or without polydactyly
Spastic Paraplegia, Ataxia, and Mental Retardation
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
Spinocerebellar Ataxias +
spondyloepimetaphyseal dysplasia, Genevieve-type
spondylometaphyseal dysplasia with cone-rod dystrophy
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Tapetoretinal Degeneration with Ataxia
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tryptophanuria with Dwarfism
X-Linked Cone Dystrophy with Tapetal-like Sheen
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked cone-rod dystrophy 3
X-linked retinitis pigmentosa and sinorespiratory infections
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