Autosomal recessive ataxias with intellectual disability and disequilibrium (CAMRQs)

Disorder	Distinguishing features	Gene or locus	Protein
CAMRQ1	Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 1	VLDLR	Very low-density lipoprotein receptor
CAMRQ2	Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 2	WDR81	WD repeat domain 81
CAMRQ3	Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 3	CA8	Carbonic anhydrase 8
CAMRQ4	Cerebellar ataxia, intellectual disability, dysequilibrium syndrome 4	ATP8A2	ATPase phospholipid transporting 8A2
IOSCA*	Infantile-onset spinocerebellar ataxia with hypotonia, ophthalmoplegia, hearing loss, sensory axonal neuropathy	TWNK	Twinkle mtDNA helicase
EAOH/AOA1	Ataxia, oculomotor apraxia, hypoalbuminemia	APTX	Aprataxin

IOSCA: infantile-onset spinocerebellar ataxia; EAOH: early-onset ataxia with oculomotor apraxia and hypoalbuminemia; AOA: ataxia with oculomotor apraxia.
* Also known as mitochondrial DNA depletion syndrome 7 (hepatocerebral type); formerly SCA8.

Data from: Online Mendelian Inheritance in Man.

Graphic 133271 Version 1.0

خرید پکیج

Autosomal recessive ataxias with intellectual disability and disequilibrium (CAMRQs)