Search results for FLNA

Gene symbol Genotype Mutation consequence Disease Panels Go to page
FLNA hemizygous all missense/in frame Otopalatodigital Syndrome DD
FLNA hemizygous gain of function FRONTOMETAPHYSEAL DYSPLASIA DD
FLNA hemizygous part of contiguous gene duplication X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION DD
FLNA x-linked dominant loss of function PERIVENTRICULAR NODULAR HETEROTOPIA 1 DD
FLNA hemizygous loss of function TERMINAL OSSEOUS DYSPLASIA DD,Skin
FLNA x-linked dominant all missense/in frame EPILEPTIC ENCEPHALOPATHY DD,Skin
FLNA x-linked dominant uncertain MELNICK-NEEDLES SYNDROME DD,Skin
FLNA hemizygous uncertain OTOPALATODIGITAL SYNDROME TYPE 2 Skin
FLNA x-linked dominant loss of function PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1 Skin