Rare Disease Library

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick 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

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Hinman syndrome

HAS · HS

Intellectual disability, Buenos-Aires type

Mutchinick syndrome

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Lateral meningocele syndrome

Lehman syndrome

Marfan syndrome

MFS

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome