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Agenesis of Corpus Callosum +
Aicardi-Goutieres syndrome +
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Athabaskan brainstem dysgenesis syndrome
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
BRAIN MALFORMATION RENAL SYNDROME
central nervous system benign neoplasm +
central nervous system cancer +
Central Nervous System Cysts + Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.
Central Nervous System Vascular Malformations +
chromosome 17p13.3 duplication syndrome
complex cortical dysplasia with other brain malformations +
Cystic Medial Necrosis of Aorta
developmental delay, dysmorphic facies, and brain anomalies
Drachtman Weinblatt Sitarz Syndrome
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
Ectodermal Dysplasia Adrenal Cyst
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
HEART AND BRAIN MALFORMATION SYNDROME
hereditary sensory neuropathy +
Median-Ulnar Nerve Communications
megalencephalic leukoencephalopathy with subcortical cysts +
microcephaly, growth deficiency, seizures, and brain malformations
Microphthalmia Associated with Colobomatous Cyst
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, 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
polycystic liver disease +
RNASET2-deficient cystic leukoencephalopathy
syndromic microphthalmia 3
syndromic microphthalmia 6
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