Rare Disease Library

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

Activated PI3K-delta syndrome

PASLI · APDS

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

Bartter syndrome type 2

Bartter syndrome type II

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Cockayne syndrome type 2

Cockayne syndrome type II

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 2

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

Stickler syndrome type 2

Timothy syndrome type 2

TS2 · LQT8 type 2

Usher syndrome type 2

USH2