Rare Disease Library

Activated PI3K-delta syndrome 1

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

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Activated PI3K-delta syndrome

PASLI · APDS

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

Bartter syndrome type 1

Bartter syndrome type I

Cockayne syndrome type 1

Cockayne syndrome type I

Feingold syndrome type 1

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

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

FG syndrome type 1

Opitz-Kaveggia syndrome

Marfan syndrome type 1

MFS1

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Stickler syndrome type 1

Timothy syndrome type 1

TS1 · LQT8 type 1

Usher syndrome type 1

USH1

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency