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Abetalipoproteinemia Neuropathy
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
adult-onset ataxia and polyneuropathy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
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 dominant intellectual developmental disorder 6
Baraitser Rodeck Garner syndrome
basal ganglia calcification +
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
Bhaskar Jagannathan Syndrome
brain small vessel disease 1
Calcific Aortic Disease with Immunologic Abnormalities, Familial
Calcification of Aortic Valve +
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Ventricle Neoplasms +
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Childhood-Onset Spasticity with Hyperglycinemia
Choroid Plexus Calcification with Mental Retardation
chromosome 15q13.3 microdeletion syndrome
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency 12
Copper Deficiency, Familial Benign
Deafness Hyperuricemia Neurologic Ataxia
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Demyelinating Autoimmune Diseases, CNS +
Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert
diffuse idiopathic skeletal hyperostosis +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Familial Capillaro-Venous Leptomeningeal Angiomatosis
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Infantile Convulsions and Paroxysmal Choreoathetosis
familial isolated deficiency of vitamin E
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Fitzsimmons Walson Mellor Syndrome
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
Hengel-Maroofian-Schols syndrome
hereditary arterial and articular multiple calcification syndrome +
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
Hyperleucine-Isoleucinemia
hypermethioninemia due to adenosine kinase deficiency
hyperphosphatemic familial tumoral calcinosis +
hypomyelinating leukodystrophy 7
hypomyelinating leukoencephalopathy
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
hypoparathyroidism-retardation-dysmorphism syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
inclusion body myopathy and brain white matter abnormalities
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infratentorial Neoplasms +
intellectual disability and myopathy syndrome
Koone Rizzo Elias Syndrome
Leukoencephalopathy with Ataxia
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Dystonia and Motor Neuropathy
leukoencephalopathy with vanishing white matter +
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
Medial Coronary Sclerosis of Infancy
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
Methionine Malabsorption Syndrome
Methylenetetrahydrofolate Reductase Deficiency
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
mismatch repair cancer syndrome +
Muller Barth Menger Syndrome
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple mitochondrial dysfunctions syndrome 8
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
myoclonic-atonic epilepsy
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with eye movement abnormalities and ataxia
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
neurodevelopmental disorder with spasticity and poor growth
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
normophosphatemic familial tumoral calcinosis
Occipital Cortical Malformations
Oculocerebrocutaneous Syndrome
Oculopharyngeal Myopathy with Leukoencephalopathy 1
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Opticocochleodentate Degeneration
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Pascual Castroviejo Syndrome
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Perniola Krajewska Carnevale Syndrome
Piepkorn Karp Hickok syndrome
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
Posterior Column Ataxia with Retinitis Pigmentosa
Posterior Leukoencephalopathy Syndrome
Powell Venencie Gordon syndrome
Primary Aldosteronism, Seizures, and Neurologic Abnormalities
progressive leukoencephalopathy with ovarian failure
progressive multifocal leukoencephalopathy
progressive myoclonus epilepsy 1B
pulmonary alveolar microlithiasis
Radiation-Induced Brain Neoplasms
Rajab Interstitial Lung Disease with Brain Calcifications +
Reardon Wilson Cavanagh Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Ribose 5-Phosphate Isomerase Deficiency
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
RNASET2-deficient cystic leukoencephalopathy
Schofer Beetz Bohl Syndrome
Seizures, Cortical Blindness, and Microcephaly Syndrome
Sensory Ataxia, Autosomal Dominant
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
spastic paraplegia with deafness
Spastic Paraplegia, Ataxia, and Mental Retardation
Spinocerebellar Ataxias +
spondyloepimetaphyseal dysplasia, Genevieve-type
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Supratentorial Neoplasms +
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Turner type
Tapetoretinal Degeneration with Ataxia
Telencephalic Leukoencephalopathy
Tranebjaerg Svejgaard syndrome
Treft Sanborn Carey Syndrome
Tremor of Intention, Ataxia, and Lipofuscinosis
Tropical Calcific Pancreatitis
Tryptophanuria with Dwarfism
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
Whyte Murphy Fallon Sly syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked mental retardation Gustavson type
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
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