Rare Disease Library

Multiple endocrine neoplasia type 2B

MEN2B · Multiple endocrine neoplasia type 3

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

WAGR syndrome

Del(11)(p13) · Deletion 11p13