Rare Disease Library

Emanuel syndrome

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

16q22 deletion syndrome

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

22q11.2 deletion syndrome

22q11DS · CATCH 22

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q13 microdeletion syndrome

del2q13 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

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

Acropectorovertebral dysplasia

F syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Angora hair nevus

Schauder syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

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 hyper-IgE syndrome due to STAT3 deficiency

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

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive spastic paraplegia type 20

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

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Bartter syndrome type 1

Bartter syndrome type I

Bartter syndrome type 2

Bartter syndrome type II

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cardiofaciocutaneous syndrome

CFC syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

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

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

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

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome