Rare Disease Library

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome