Rare Disease Library

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

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

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Jansen-de Vries syndrome

JDVS · Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome