Results for "pyloric stenosis, infantile hypertrophic, 2": 14 genes

Name

IHPS2 Gene

Pyloric stenosis, infantile hypertrophic, 2

IHPS5 Gene

Pyloric stenosis, infantile hypertrophic, 5

IHPS4 Gene

Pyloric stenosis, infantile hypertrophic, 4

IHPS3 Gene

Pyloric stenosis, infantile hypertrophic, 3

CMH21 Gene

Cardiomyopathy, familial hypertrophic, 21

BFIS1 Gene

benign familial infantile convulsions

NYS5 Gene

Nystagmus 5, infantile periodic alternating

CLN6 Gene

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

BFIS4 Gene

Convulsions, benign familial infantile, 4

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

BFIC2 Gene

Benign familial infantile convulsions-2

EIM Gene

Infantile myoclonic epilepsy

GLC3B Gene

glaucoma 3, primary infantile, B

CMS1A1 Gene

myasthenia gravis, familial infantile, 1