Rare Disease Library

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Autosomal recessive distal osteolysis syndrome

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

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

Cerebro-oculo-facial-lymphatic syndrome

Fryns-Aftimos syndrome

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Duane anomaly-myopathy-scoliosis syndrome

Verloes-Deprez syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

Metaphyseal anadysplasia

Maroteaux-Verloes-Stanescu syndrome · Regressive metaphyseal dysplasia