Rare Disease Library

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Aymé-Gripp syndrome

Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Grant syndrome

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment 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

Grisel syndrome

Atlantoaxial non-traumatic subluxation

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Prader-Willi syndrome

Prader-Labhart-Willi syndrome