Rare Disease Library

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

Diets-Jongmans Syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

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

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Down syndrome

Trisomy 21

Epilepsy with eyelid myoclonia

EMA · EMEA

Evans syndrome

Autoimmune hemolytic anemia and autoimmune thrombocytopenia · Immune pancytopenia

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

JMP syndrome

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

Jung syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Loeys-Dietz syndrome

Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Mietens syndrome

Intellectual disability, Mietens-Weber type

Miller-Dieker syndrome

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

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome