Conditions related to genes on chromosome 14

Genetics Home Reference includes these conditions related to genes on chromosome 14:

• age-related macular degeneration
• alpha-1 antitrypsin deficiency
• Alzheimer disease
• amyotrophic lateral sclerosis
• branchiootorenal syndrome
• Charcot-Marie-Tooth disease
• coloboma
• combined pituitary hormone deficiency
• congenital hypothyroidism
• cutis laxa
• DICER1 syndrome
• dopa-responsive dystonia
• dyskeratosis congenita
• familial hypertrophic cardiomyopathy
• familial restrictive cardiomyopathy
• glycogen storage disease type VI
• 2-hydroxyglutaric aciduria
• Krabbe disease
• Laing distal myopathy
• lamellar ichthyosis
• leukoencephalopathy with vanishing white matter
• lysinuric protein intolerance
• microphthalmia
• myosin storage myopathy
• Niemann-Pick disease
• nonsyndromic deafness
• oculopharyngeal muscular dystrophy
• pontocerebellar hypoplasia
• Proteus syndrome
• purine nucleoside phosphorylase deficiency
• Rett syndrome
• septo-optic dysplasia
• spastic paraplegia type 3A
• spinal muscular atrophy
• spinocerebellar ataxia type 3
• tetrahydrobiopterin deficiency