Rare Disease Library

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Athabaskan brainstem dysgenesis syndrome

ABSD · Athabascan brainstem dysgenesis syndrome

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Corpus callosum dysgenesis-hypopituitarism syndrome

Holoprosencephaly-caudal dysgenesis syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect