chromosomal deletion syndrome +
syndrome +

3-M syndrome
3MC syndrome +
3p deletion syndrome
46,XY sex reversal 10
46,XY sex reversal 4
Aagenaes syndrome
Aarskog syndrome +
ABCD syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
Achard syndrome
acrocallosal syndrome
acrocardiofacial syndrome
acrorenal syndrome
Adams-Oliver syndrome
Adie syndrome
ADULT syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Aicardi syndrome
Aicardi-Goutieres syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome +
alpha thalassemia-intellectual disability syndrome type 1
alpha-thalassemia myelodysplasia syndrome
Alport syndrome +
Alstrom syndrome
AMED syndrome
Angelman syndrome
anterior spinal artery syndrome
Antley-Bixler syndrome with disordered steroidogenesis
aplasia of lacrimal and salivary glands
ARC syndrome +
autoimmune interstitial lung, joint, and kidney disease
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant keratitis-ichthyosis-deafness syndrome
Axenfeld-Rieger syndrome type 2
Ayme-Gripp syndrome
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome +
Barber-Say syndrome
Bardet-Biedl syndrome +
Barre-Lieou syndrome
Bart-Pumphrey syndrome
basilar artery insufficiency
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Beemer-Langer syndrome
Birk-Barel syndrome
Bjornstad syndrome
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis-impaired intellectual development syndrome
Bloom syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
branchiooculofacial syndrome
branchiootic syndrome
branchiootorenal syndrome +
breast implant illness
Brown-Vialetto-Van Laere syndrome +
Bruck syndrome
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
C syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carey-Fineman-Ziter syndrome
Carney complex
Carney-Stratakis syndrome
Caroli syndrome
Cauda equina syndrome
CEDNIK syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
cerebellofaciodental syndrome
cerebrocostomandibular syndrome
CHARGE syndrome
Chediak-Higashi syndrome
CHILD syndrome
CHIME syndrome
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 10q23 deletion syndrome
chromosome 13q14 deletion syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q41-q42 deletion syndrome
chromosome 22q11.2 deletion syndrome, distal
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
chronic atrial and intestinal dysrhythmia
chronic fatigue syndrome
ciliopathy +
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
CLOVES syndrome
COACH syndrome
Cockayne syndrome +
CODAS syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome +
Cohen syndrome
cold-induced sweating syndrome +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
cranioectodermal dysplasia +
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
CREST syndrome
Cri-Du-Chat syndrome
Cri-Du-Chat syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Culler-Jones syndrome
Currarino syndrome
cystic fibrosis
deafness, dystonia, and cerebral hypomyelination
Denys-Drash syndrome
DeSanto-Shinawi syndrome
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
dialysis disequilibrium syndrome
DICER1 syndrome
diffuse infiltrative lymphocytosis syndrome
DiGeorge syndrome
DiGeorge syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
distal 10q deletion syndrome
dominant optic atrophy plus syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
Duane-radial ray syndrome
Dubowitz syndrome
dysplastic nevus syndrome
EAST syndrome
ectodermal dysplasia +
EEC syndrome +
Ellis-Van Creveld syndrome
Elsahy-Waters syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 1
encephalopathy due to defective mitochondrial and peroxisomal fission 2
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex with muscular dystrophy
Fanconi-like syndrome
Feingold syndrome
Felty's syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
fetal valproate syndrome
FG syndrome
fibrogenesis imperfecta ossium
fibromyalgia
Filippi syndrome
Floating-Harbor syndrome
focal dermal hypoplasia
fragile X syndrome
Fraser syndrome +
Frasier syndrome
frontonasal dysplasia +
Fuchs' heterochromic uveitis
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GAPO syndrome
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Gillespie syndrome
Goldberg-Shprintzen syndrome
Goldenhar syndrome
Gorham's disease
growth hormone insensitivity syndrome with immune dysregulation 1
growth hormone insensitivity syndrome with immune dysregulation 2
Guttmacher syndrome
Hallermann-Streiff syndrome
Halperin-Birk syndrome
hand-foot-genital syndrome
Harel-Yoon syndrome
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome
hereditary breast ovarian cancer syndrome
hereditary desmoid disease
hereditary nonpolyposis colorectal cancer type 8
Hermansky-Pudlak syndrome +
high myopia-sensorineural deafness syndrome
histiocytosis-lymphadenopathy plus syndrome
holoprosencephaly +
Holt-Oram syndrome
Holzgreve-Wagner-Rehder Syndrome
hydrolethalus syndrome +
hyperferritinemia-cataract syndrome
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatasia +
hypoplastic or aplastic tibia with polydactyly
hypotonia, ataxia, and delayed development syndrome
hypotonia-cystinuria syndrome
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
IMAGe syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile liver failure syndrome +
intellectual developmental disorder with cardiac arrhythmia
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability and myopathy syndrome
IVIC syndrome
Jackson-Weiss syndrome
Jacobsen Syndrome
Jalili syndrome
Johanson-Blizzard syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kabuki syndrome
Kagami-Ogata syndrome
Kahrizi syndrome
KBG syndrome
Keipert syndrome
Kenny-Caffey syndrome +
KINSSHIP syndrome
Kleefstra syndrome +
Kleefstra syndrome 1
Klippel-Feil syndrome +
Klippel-Trenaunay syndrome
Kohlschutter-Tonz syndrome
Koolen de Vries syndrome
LADD syndrome +
Laron syndrome
Larsen syndrome
Larsen-like syndrome B3GAT3 type
lateral meningocele syndrome
Laurence-Moon syndrome
Leber plus disease +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Li-Fraumeni syndrome +
linear nevus sebaceous syndrome
Loeys-Dietz syndrome +
Lown-Ganong-Levine syndrome
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
Maffucci syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis, Guion-Almeida type
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
Marsili syndrome
Martsolf syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McCune Albright syndrome
McKusick-Kaufman syndrome
median arcuate ligament syndrome
MEDNIK syndrome
Meester-Loeys syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Meier-Gorlin syndrome +
melanoma and neural system tumor syndrome
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly-micromelia syndrome
microphthalmia with limb anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miller-Dieker lissencephaly syndrome
mismatch repair cancer syndrome
MLS syndrome +
mosaic variegated aneuploidy syndrome +
Mowat-Wilson syndrome
Muckle-Wells syndrome
Mulchandani-Bhoj-Conlin syndrome
mulibrey nanism
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple chemical sensitivity
multiple endocrine neoplasia +
multiple epiphyseal dysplasia with myopia and deafness
N syndrome
nail-patella syndrome
Nance-Horan syndrome
Nasu-Hakola disease
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with hypotonia and speech delay
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome +
NFIA-related disorder
NFIA-related disorder
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome
Norrie disease
oculoauricular syndrome
oculocerebrorenal syndrome
oculocutaneous albinism +
oculodentodigital dysplasia
Ogden syndrome
Ohdo syndrome +
Oliver-McFarlane syndrome
Ollier disease
Opitz GBBB syndrome
orofacial cleft +
orofaciodigital syndrome +
osteoporosis-pseudoglioma syndrome
overactive bladder syndrome
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PAPA syndrome
PCWH syndrome
Pendred Syndrome
Perlman syndrome
Perrault syndrome +
Perry syndrome
persian gulf syndrome
Peters plus syndrome
PHARC syndrome
Phelan-McDermid syndrome
Pierson syndrome
Pitt-Hopkins syndrome
plasminogen deficiency type I
polyhydramnios, megalencephaly, and symptomatic epilepsy
popliteal pterygium syndrome
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
posterior amorphous corneal dystrophy
Potocki-Shaffer syndrome
Potocki-Shaffer syndrome
Prader-Willi syndrome
primary hypertrophic osteoarthropathy
progeroid syndrome +
progressive osseous heteroplasia
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome +
proximal symphalangism +
prune belly syndrome
pseudo-TORCH syndrome 1
PTEN hamartoma tumor syndrome +
Qazi Markouizos syndrome
rapadilino syndrome
RASopathy +
renal coloboma syndrome
Reye syndrome
rhabdoid tumor predisposition syndrome +
RIDDLE syndrome
Ritscher-Schinzel syndrome +
Roberts syndrome
Robinow syndrome +
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome
Ruijs-Aalfs syndrome
SADDAN
salt and pepper syndrome
Sandestig-Stefanova syndrome
SAPHO syndrome
SATB2-associated syndrome
SATB2-associated syndrome
Schaaf-Yang syndrome
Schinzel type phocomelia
Schwartz-Jampel syndrome 1
Seckel syndrome +
Senior-Loken syndrome
septooptic dysplasia
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT syndrome
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson syndrome
Smith-Magenis syndrome
Sotos syndrome +
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Stickler syndrome +
Stolerman neurodevelopmental syndrome
subclavian steal syndrome
sudden infant death syndrome
Sweeney-Cox syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
TANGO2-related metabolic encephalopathy and arrythmias
TARP syndrome
Teebi hypertelorism syndrome +
Temple syndrome
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
terminal osseous dysplasia
tetraamelia syndrome +
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
thrombocytopenia-absent radius syndrome
Tietz syndrome
Timothy syndrome
tooth and nail syndrome
TORCH syndrome
Townes-Brocks syndrome
Treacher Collins syndrome +
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
trichothiodystrophy +
triple-A syndrome
tuberous sclerosis +
ulnar-mammary syndrome
urofacial syndrome
Uruguay faciocardiomusculoskeletal syndrome
Usher syndrome +
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL association +
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van Maldergem syndrome +
velocardiofacial syndrome
ventriculomegaly - cystic kidney disease
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency
vertebral hypersegmentation and orofacial anomalies
VEXAS syndrome
Vici syndrome
Vissers-Bodmer syndrome
Vohwinkel syndrome
Waardenburg syndrome +
WAGR syndrome
Waisman syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Weaver syndrome
Weill-Marchesani syndrome
Williams-Beuren syndrome
Williams-Beuren syndrome
Winchester syndrome
Wiskott-Aldrich syndrome
Wissler-Fanconi syndrome
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome +
Woodhouse-Sakati syndrome
wrinkly skin syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
xeroderma pigmentosum +
Y-linked spermatogenic failure 1
yellow nail syndrome
Yoon-Bellen neurodevelopmental syndrome
Yunis-Varon syndrome
Zaki syndrome
Zika virus congenital syndrome
Zollinger-Ellison syndrome
ZTTK syndrome