Rare Disease Library

CK syndrome

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

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

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

Berant syndrome · Capra-DeMarco syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

EAST syndrome

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

Ectrodactyly-cleft palate syndrome

ECP syndrome

EDICT syndrome

Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Eiken syndrome

EN1-related dorsoventral syndrome

ENDOVES · ENDOVE syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Evans syndrome

Autoimmune hemolytic anemia and autoimmune thrombocytopenia · Immune pancytopenia

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Guillain-Barré syndrome

GBS · Guillain-Barré-Strohl syndrome

H syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

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

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

L1 syndrome

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

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Liddle syndrome

Pseudoaldosteronism

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome