Rare Disease Library

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Asherman syndrome

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

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

Hinman syndrome

HAS · HS

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Lateral meningocele syndrome

Lehman syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome