Rare Disease Library

Severe early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

Syndome with combined immunodeficiency due to thymic defect

T-B- severe combined immunodeficiency

T-B- SCID

T-B+ severe combined immunodeficiency

T-B+ SCID

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

T-B+ severe combined immunodeficiency due to gamma chain deficiency

SCIDX1 · T-B+ SCID due to gamma chain deficiency

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ SCID due to IL-7Ralpha deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

T+ B+ severe combined immunodeficiency

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency