Rare Disease Library

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Lateral meningocele syndrome

Lehman syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome