Genetics

PRPH2 gene

Congenital insensitivity to pain with anhidrosis

Trisomy 13

Myasthenia gravis

ACADS gene

PYGM gene

PSEN2 gene

Hereditary angiopathy with nephropathy aneurysms and muscle cramps syndrome

15q133 microdeletion

Axenfeld-Rieger syndrome

Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome

Autosomal recessive congenital stationary night blindness