Rare Disease Library

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Bartter syndrome type 1

Bartter syndrome type I

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

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

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Marfan syndrome type 1

MFS1

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Monosomy 18p syndrome

18p- syndrome · De Grouchy 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