central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
cerebral amyloid angiopathy +
cerebral creatine deficiency syndrome +
cerebral lipidosis with dementia +
Chiari malformation type I
Chiari malformation type II
childhood absence epilepsy
childhood apraxia of speech
childhood-onset nemaline myopathy +
choroid plexus papilloma
chromosome 2p16.3 deletion syndrome
chronic central serous retinopathy
chronic cystitis +
Chronic Eosinophilic Leukemia, Not Otherwise Specified
chronic fatigue syndrome
chronic gastritis +
chronic hepatitis B virus infection
chronic hepatitis C virus infection
chronic human papillomavirus infection
chronic inflammatory demyelinating polyneuropathy
A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.