agenesis of the corpus callosum with peripheral neuropathy
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
A severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows cerebral and cerebellar atrophy. CONDBA is caused by heterozygous mutation in the UBTF gene on chromosome 17q21.(OMIM)
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Chronic Traumatic Encephalopathy
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
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
motor neuron disease +
multiple system atrophy +
myoclonic cerebellar dyssynergia +
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
neurodegeneration with brain iron accumulation +
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA