Results for "Severe T lymphocytopenia": 5 genes

Name

PKDTS Gene

polycystic kidney disease, infantile trong>severetrong>, with tuberous sclerosis

USH1C Gene

Usher syndrome 1C (autosomal recessive, trong>severetrong>)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1E Gene

Usher syndrome 1E (autosomal recessive, trong>severetrong>)

MRST Gene

Mental retardation, trong>severetrong>, with spasticity and tapetoretinal

COPD Gene

Pulmonary disease, chronic obstructive, trong>severetrong> early-onset