Conditions related to genes on chromosome 12

Genetics Home Reference includes these conditions related to genes on chromosome 12:

• achondrogenesis
• amyotrophic lateral sclerosis
• arrhythmogenic right ventricular cardiomyopathy
• Bardet-Biedl syndrome
• cardiofaciocutaneous syndrome
• Charcot-Marie-Tooth disease
• coloboma
• congenital fibrosis of the extraocular muscles
• congenital stromal corneal dystrophy
• cutis laxa
• Czech dysplasia
• Darier disease
• dentatorubral-pallidoluysian atrophy
• Diamond-Blackfan anemia
• distal arthrogryposis type 1
• distal hereditary motor neuropathy, type II
• epidermolysis bullosa simplex
• epidermolytic hyperkeratosis
• episodic ataxia
• hereditary hemorrhagic telangiectasia
• hereditary hypophosphatemic rickets
• hereditary sensory and autonomic neuropathy type II
• histidinemia
• Holt-Oram syndrome
• hypochondrogenesis
• IRAK-4 deficiency
• Joubert syndrome
• Kabuki syndrome
• Klippel-Feil syndrome
• Kniest dysplasia
• lactate dehydrogenase deficiency
• Leber congenital amaurosis
• leukoencephalopathy with vanishing white matter
• metatropic dysplasia
• methylmalonic acidemia
• mevalonate kinase deficiency
• microphthalmia
• monilethrix
• mucolipidosis II alpha/beta
• mucolipidosis III alpha/beta
• mucopolysaccharidosis type III
• multiple lentigines syndrome
• myopathy with deficiency of iron-sulfur cluster assembly enzyme
• nephrogenic diabetes insipidus
• nonsyndromic deafness
• Noonan syndrome
• pachyonychia congenita
• Parkinson disease
• persistent Müllerian duct syndrome
• phenylketonuria
• platyspondylic lethal skeletal dysplasia, Torrance type
• PRICKLE1-related progressive myoclonus epilepsy with ataxia
• pseudohypoaldosteronism type 1
• pseudohypoaldosteronism type 2
• short-chain acyl-CoA dehydrogenase deficiency
• spinocerebellar ataxia type 2
• spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloepiphyseal dysplasia congenita
• spondyloperipheral dysplasia
• Stickler syndrome
• Swyer syndrome
• Timothy syndrome
• triple A syndrome
• tumor necrosis factor receptor-associated periodic syndrome
• tyrosinemia
• von Willebrand disease