agenesis of the corpus callosum with peripheral neuropathy
Aicardi-Goutieres syndrome +
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
Childhood-Onset Neurodegeneration with Brain Atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Chronic Traumatic Encephalopathy
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
demyelinating disease +
eye degenerative disease +
eyelid degenerative disease +
Feigenbaum Bergeron Richardson Syndrome
FINCA Syndrome
hereditary ataxia +
Huntington's disease-like 2
Idiopathic Basal Ganglia Calcification 1
Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic. (OMIM)