|
15q24 microdeletion syndrome
|
(Orphanet:94065)
|
|
16p11.2p12.2 microdeletion syndrome
|
(Orphanet:261211)
|
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
|
8q22.1 microdeletion syndrome
|
(Orphanet:178303)
|
|
AARSKOG-SCOTT SYNDROME
|
(OMIM:305400)
|
|
ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE
|
(OMIM:201310)
|
|
Aarskog-Scott syndrome
|
(Orphanet:915)
|
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
|
Alström syndrome
|
(Orphanet:64)
|
|
Antenatal multiminicore disease with arthrogryposis multiplex congenita
|
(Orphanet:178148)
|
|
Arthrogryposis with oculomotor limitation and electroretinal anomalies
|
(Orphanet:1154)
|
|
Autosomal dominant Robinow syndrome
|
(Orphanet:3107)
|
|
Autosomal recessive Robinow syndrome
|
(Orphanet:1507)
|
|
Autosomal recessive spastic paraplegia type 20
|
(Orphanet:101000)
|
|
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS
|
(OMIM:610023)
|
|
BRACHYDACTYLY, TYPE A1, B
|
(OMIM:607004)
|
|
Banki syndrome
|
(Orphanet:1228)
|
|
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
|
(Orphanet:231117)
|
|
Blepharo-cheilo-odontic syndrome
|
(Orphanet:1997)
|
|
Blepharophimosis-intellectual deficit syndrome, MKB type
|
(Orphanet:293707)
|
|
Brachydactyly-long thumb syndrome
|
(Orphanet:2946)
|
|
Brachyolmia
|
(Orphanet:1293)
|
|
C syndrome
|
(Orphanet:1308)
|
|
COLD-INDUCED SWEATING SYNDROME 2
|
(OMIM:610313)
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
|
(OMIM:300934)
|
|
CORNELIA DE LANGE SYNDROME 2
|
(OMIM:300590)
|
|
Cardiodysrhythmic potassium-sensitive periodic paralysis
|
(Orphanet:37553)
|
|
Cerebro-facio-articular syndrome
|
(Orphanet:314679)
|
|
Craniosynostosis and dental anomalies
|
(Orphanet:284149)
|
|
Distal monosomy 10q
|
(Orphanet:96148)
|
|
Frontonasal dysplasia
|
(Orphanet:250)
|
|
GOMBO SYNDROME
|
(OMIM:233270)
|
|
Goldberg-Shprintzen megacolon syndrome
|
(Orphanet:66629)
|
|
Goodman syndrome
|
(Orphanet:65798)
|
|
Growth delay due to insulin-like growth factor I resistance
|
(Orphanet:73273)
|
|
Growth delay due to insulin-like growth factor type 1 deficiency
|
(Orphanet:73272)
|
|
Heart-hand syndrome, Slovenian type
|
(Orphanet:168796)
|
|
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
|
(Orphanet:2958)
|
|
Ito hypomelanosis
|
(Orphanet:435)
|
|
Joubert syndrome 28
|
(OMIM:617121)
|
|
Joubert syndrome with orofaciodigital defect
|
(Orphanet:2754)
|
|
KBG syndrome
|
(Orphanet:2332)
|
|
Kallmann syndrome
|
(Orphanet:478)
|
|
MICROPHTHALMIA, SYNDROMIC 1
|
(OMIM:309800)
|
|
McDonough syndrome
|
(Orphanet:2471)
|
|
Meckel syndrome
|
(Orphanet:564)
|
|
Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
|
|
Microcephaly-capillary malformation syndrome
|
(Orphanet:294016)
|
|
Moebius syndrome
|
(Orphanet:570)
|
|
Monosomy 18p
|
(Orphanet:1598)
|
|
Muenke syndrome
|
(Orphanet:53271)
|
|
Multiple epiphyseal dysplasia, Al-Gazali type
|
(Orphanet:166024)
|
|
Multiple synostoses syndrome
|
(Orphanet:3237)
|
|
Myhre syndrome
|
(Orphanet:2588)
|
|
Nager syndrome
|
(Orphanet:245)
|
|
Neu-Laxova syndrome
|
(Orphanet:2671)
|
|
Noonan syndrome
|
(Orphanet:648)
|
|
OPITZ-KAVEGGIA SYNDROME
|
(OMIM:305450)
|
|
OSLAM syndrome
|
(Orphanet:2760)
|
|
OTOFACIOCERVICAL SYNDROME 2
|
(OMIM:615560)
|
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
|
Orofaciodigital syndrome type 1
|
(Orphanet:2750)
|
|
Orofaciodigital syndrome type 4
|
(Orphanet:2753)
|
|
Paris-Trousseau thrombocytopenia
|
(Orphanet:851)
|
|
Pitt-Hopkins syndrome
|
(Orphanet:2896)
|
|
Pontocerebellar hypoplasia, type 9
|
(OMIM:615809)
|
|
Prader-Willi syndrome
|
(Orphanet:739)
|
|
Pseudoaminopterin syndrome
|
(Orphanet:221120)
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
|
(OMIM:616331)
|
|
Roberts syndrome
|
(Orphanet:3103)
|
|
SC PHOCOMELIA SYNDROME
|
(OMIM:269000)
|
|
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
|
(OMIM:181405)
|
|
SHORT syndrome
|
(Orphanet:3163)
|
|
Schilbach-Rott syndrome
|
(Orphanet:2353)
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
(Orphanet:277)
|
|
Short stature - valvular heart disease - characteristic facies
|
(Orphanet:2868)
|
|
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
|
(Orphanet:314394)
|
|
Simpson-Golabi-Behmel syndrome type 2
|
(Orphanet:79022)
|
|
Split hand-split foot malformation
|
(Orphanet:2440)
|
|
Spondyloepiphyseal dysplasia, MacDermot type
|
(Orphanet:163668)
|
|
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
|
(Orphanet:357332)
|
|
Syndromic multisystem autoimmune disease due to Itch deficiency
|
(Orphanet:228426)
|
|
TARP syndrome
|
(Orphanet:2886)
|
|
TARSAL-CARPAL COALITION SYNDROME
|
(OMIM:186570)
|
|
TEMPLE SYNDROME
|
(OMIM:616222)
|
|
VAN MALDERGEM SYNDROME 2
|
(OMIM:615546)
|
|
VERHEIJ SYNDROME
|
(OMIM:615583)
|
|
W syndrome
|
(Orphanet:2804)
|
|
Waardenburg syndrome
|
(Orphanet:3440)
|
|
Weaver syndrome
|
(Orphanet:3447)
|