Rare Disease Library

Dincsoy-Salih-Patel syndrome

Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome