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Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
agenesis of the corpus callosum with peripheral neuropathy
Al Gazali Sabrinathan Nair Syndrome
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Beaulieu-Boycott-Innes Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
brachycephaly, trichomegaly, and developmental delay
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
brain small vessel disease 1
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellofaciodental syndrome
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Chitayat Moore Del Bigio Syndrome
Chitty Hall Webb Syndrome
chromosome 13q14 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 3q29 microdeletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
combined oxidative phosphorylation deficiency 12
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Demyelinating Autoimmune Diseases, CNS +
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
Developmental Delay with or without Dysmorphic Facies and Autism
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Developmental Delay, Language Impairment, and Ocular Abnormalities
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
diphthamide deficiency syndrome +
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
eye degenerative disease +
Feigenbaum Bergeron Richardson Syndrome
Forsythe-Wakeling Syndrome
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glycosylphosphatidylinositol Biosynthesis Defect 25
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
Heyn-Sproul-Jackson Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
Huntington's disease-like 2
hypermethioninemia due to adenosine kinase deficiency
hypomyelinating leukoencephalopathy
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
Immunodeficiency 78 with Autoimmunity and Developmental Delay
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
inclusion body myopathy and brain white matter abnormalities
intellectual disability and myopathy syndrome
KOHLSCHUTTER-TONZ SYNDROME-LIKE
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 A disease characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive.
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, seizures, and developmental delay
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mosaic Variegated Aneuploidy Syndrome 5
Multiple mitochondrial dysfunctions syndrome 8
multiple system atrophy +
myoclonic cerebellar dyssynergia +
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
neurodegeneration with brain iron accumulation +
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neuronal intranuclear inclusion disease
Non-Lissencephalic Cortical Dysplasia
Obesity, Hyperphagia, and Developmental Delay
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Oliver-McFarlane syndrome
olivopontocerebellar atrophy +
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay
osteosclerotic metaphyseal dysplasia
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Partington Anderson Syndrome
Periventricular Nodular Heterotopia 7
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
pontocerebellar hypoplasia +
Posterior Leukoencephalopathy Syndrome
postpoliomyelitis syndrome
primary cerebellar degeneration +
progressive leukoencephalopathy with ovarian failure
progressive multifocal leukoencephalopathy
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Rajab Interstitial Lung Disease with Brain Calcifications +
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Refsum Disease with Increased Pipecolic Acidemia
Ribose 5-Phosphate Isomerase Deficiency
RNASET2-deficient cystic leukoencephalopathy
Roifman-Chitayat Syndrome
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Short Stature, Developmental Delay, and Congenital Heart Defects
SHORT STATURE-MICROGNATHIA SYNDROME
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Snijders Blok-Fisher Syndrome
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
succinic semialdehyde dehydrogenase deficiency
Telencephalic Leukoencephalopathy
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
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