Genetics

SLC25A20 gene

TMEM70 gene

Partington syndrome

ALG12 gene

X-linked congenital stationary night blindness

Hereditary sensory and autonomic neuropathy type V

Leukocyte adhesion deficiency type 1

SACS gene

What kinds of gene variants are possible

Short-chain acyl-CoA dehydrogenase deficiency

How is genetic testing done

Tetrahydrobiopterin deficiency