Rare Disease Library

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

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

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

Duane retraction syndrome

DRS · DURS

Dubowitz syndrome

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

FLOTCH syndrome

Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

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

Knobloch syndrome

Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Trichodental syndrome

Kersey syndrome