Rare Disease Library

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Hallermann-Streiff-like syndrome

Dennis-Fairhurst-Moore syndrome · Hallermann-Streiff-François syndrome, severe form

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

Ichthyosis-oral and digital anomalies syndrome

Clayton Smith-Donnai syndrome

MEDNIK syndrome

Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome

OBSOLETE: Dennis-Cohen syndrome

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome