|
Agenesis of Corpus Callosum +
Aicardi-Goutieres syndrome + A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Athabaskan brainstem dysgenesis syndrome
autoimmune disease of central nervous system +
autoimmune disease of eyes, ear, nose and throat +
autoimmune disease of peripheral nervous system +
autosomal dominant disease +
autosomal recessive disease +
blepharophimosis, ptosis, and epicanthus inversus syndrome +
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
BRAIN MALFORMATION RENAL SYNDROME
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Central Nervous System Cysts +
Central Nervous System Vascular Malformations +
central nervous system vasculitis +
chromosome 17p13.3 duplication syndrome
chromosome 1q41-q42 deletion syndrome +
combined oxidative phosphorylation deficiency 55
complex cortical dysplasia with other brain malformations +
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
developmental delay, dysmorphic facies, and brain anomalies
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
Drachtman Weinblatt Sitarz Syndrome
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
Experimental Nervous System Autoimmune Disease +
exudative vitreoretinopathy 4
familial adenomatous polyposis +
familial Mediterranean fever +
focal segmental glomerulosclerosis 3
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
glucose transporter type 1 deficiency syndrome +
HEART AND BRAIN MALFORMATION SYNDROME
hereditary sensory neuropathy +
hereditary spastic paraplegia 30 +
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 10
Idiopathic Basal Ganglia Calcification 4
Idiopathic Basal Ganglia Calcification 5
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
Idiopathic Basal Ganglia Calcification 8
Idiopathic Basal Ganglia Calcification 9
Idiopathic Basal Ganglia Calcification, Childhood Onset
Median-Ulnar Nerve Communications
microcephaly, growth deficiency, seizures, and brain malformations
NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
neurodevelopmental disorder with hypotonia and speech delay
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
spondylocostal dysostosis 5
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 3
syndromic microphthalmia 6
syndromic microphthalmia 8
thrombophilia due to thrombomodulin defect
Vogt-Koyanagi-Harada disease
Weill-Marchesani syndrome +
|
|