Rare Disease Library

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Antley-Bixler syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Hurler syndrome

Hurler disease · MPS1H

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

Keipert syndrome

Nasodigitoacoustic syndrome

Kenny-Caffey syndrome

Kenny syndrome

Keutel syndrome

Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Mills syndrome

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

Seckel syndrome

Sillence syndrome

Brachydactyly-symphalangism syndrome

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler syndrome

Trichodental syndrome

Kersey syndrome