Rare Disease Library

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Down syndrome

Trisomy 21

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Fragile X syndrome

FRAXA syndrome · FXS

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

H syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Iridocorneal endothelial syndrome

ICE syndrome

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Juberg-Marsidi syndrome

KBG syndrome

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

KID syndrome

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

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome