Rare Disease Library

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Tungland-Bellman syndrome

Angelman syndrome

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

H1-4-related neurodevelopmental disorder · Rahman syndrome

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

CHAND syndrome

Baughman syndrome · CHANDS

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Familial cylindromatosis

Turban tumor syndrome

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Fragile X syndrome

FRAXA syndrome · FXS

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gitelman syndrome

Hinman syndrome

HAS · HS

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Lateral meningocele syndrome

Lehman syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Poland syndrome

Poland anomaly · Poland sequence

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome