Rare Disease Library

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

22q11.2 deletion syndrome

22q11DS · CATCH 22

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Andersen-Tawil syndrome

Andersen syndrome · LQT7

Angora hair nevus

Schauder syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Ascher syndrome

Blepharochalasis-double lip 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

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CK syndrome

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

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Dysequilibrium syndrome

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

Emanuel syndrome

Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Fraser-like syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

H syndrome

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hurler syndrome

Hurler disease · MPS1H

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

KID syndrome

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

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

L1 syndrome

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