Rare Disease Library

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CK syndrome

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

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Combined dystonia

Dystonia-plus syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

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

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

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

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

DOORS syndrome

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

Down syndrome

Trisomy 21

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

Duane retraction syndrome

DRS · DURS

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Dystonia-aphonia syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS