Rare Disease Library

Symmetrical thalamic calcifications

Bilateral symmetrical thalamic gliosis

Sympathetic ophthalmia

Sympathetic uveitis

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Symptomatic form of Coffin-Lowry syndrome in female carriers

Symptomatic form of HFE-related hemochromatosis

Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Symptomatic form of X-linked centronuclear myopathy in female carriers

Symptomatic form of X-linked myotubular myopathy in female carriers · Symptomatic form of XLMTM in female carriers

Synaptic congenital myasthenic syndrome

Syndactyly type 1

Syndactyly type 2

Synpolydactyly

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

Syndactyly type 4

Polysyndactyly, Haas type

Syndactyly type 5

Postaxial syndactyly with metacarpal synostosis · SD5

Syndactyly type 6

Mitten hand · Syndactyly, mitten type

Syndactyly type 8

Fusion of metacarpals 4 and 5

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to dup(2)(q31.1) · Syndactyly-nystagmus syndrome due to trisomy 2q31.1

Syndactyly-polydactyly-ear lobe syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Syndesmodysplasic dwarfism

Laplane-Fontaine-Lagardere syndrome

Syndome with combined immunodeficiency due to thymic defect

Syndrome associated with dilated cardiomyopathy

Syndrome associated with hypertrophic cardiomyopathy

Syndrome of reduced sensitivity to thyroid hormone

Syndrome or malformation associated with head and neck malformations

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development

Syndrome with 46,XY difference of sex development

Syndrome with 46,XY disorder of sex development · Syndrome with 46,XY DSD

Syndrome with a central nervous system malformation as a major feature

Syndrome with a cerebellar malformation as a major feature

Syndrome with a Dandy-Walker malformation as a major feature

Syndrome with alpha-thalassemia as a major feature

Syndrome with combined immunodeficiency

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

Syndrome with congenital phagocyte functional defect as a major feature

Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect as a major feature

Syndrome with corpus callosum agenesis/dysgenesis as a major feature

Syndrome with difference of sex development of gynecological interest

Syndrome with DSD of gynecological interest · Syndrome with disorder of sex development of gynecological interest

Syndrome with hypoparathyroidism

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

Syndrome with limb malformations as a major feature

Syndrome with limb reduction defects

Syndrome with microcephaly as a major feature

Syndrome with pulmonary hypertension as a major feature

Syndrome with synostosis or other joint formation defect

Syndrome with woolly hair

Syndromic agammaglobulinemia

Syndromic aniridia

Syndromic ankyloblepharon filiforme adnatum

Syndromic ankyloblepharon

Syndromic autoimmune enteropathy