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8q22.1 microdeletion syndrome
Abruzzo-Erickson syndrome
absent tibia-polydactyly-arachnoid cyst syndrome
acro-renal-mandibular syndrome
acrocraniofacial dysostosis
acrofacial dysostosis, Weyers type
acrofrontofacionasal dysostosis 2
Acroosteolysis dominant type
Adamantinomatous Craniopharyngioma
ADAR-related type 1 interferonopathy +
adult-onset Still's disease
Aicardi-Goutieres syndrome +
alar cartilages hypoplasia-coloboma-telecanthus syndrome
anonychia-microcephaly syndrome
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
arrhinia-choanal atresia-microphthalmia syndrome
arterial tortuosity syndrome
arthrogryposis, distal, type 2B3
ATM-related cancer predisposition
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
autoimmune interstitial lung disease-arthritis syndrome
autoinflammation with episodic fever and lymphadenopathy
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
autoinflammatory disease, systemic, with vasculitis
autoinflammatory disease, X-linked
autoinflammatory syndrome of childhood +
autoinflammatory syndrome with immunodeficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome, familial, Behcet-like +
autosomal dominant Alport syndrome
autosomal dominant brachyolmia
autosomal dominant cataract
autosomal dominant centronuclear myopathy
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant coarctation of aorta
autosomal dominant complex spastic paraplegia +
autosomal dominant cutis laxa +
autosomal dominant distal myopathy +
autosomal dominant distal renal tubular acidosis
autosomal dominant Ehlers-Danlos syndrome, vascular type
autosomal dominant Emery-Dreifuss muscular dystrophy +
autosomal dominant epidermolytic ichthyosis +
autosomal dominant hereditary sensory and autonomic neuropathy
autosomal dominant hypocalcemia +
autosomal dominant hypohidrotic ectodermal dysplasia +
autosomal dominant hypophosphatemic rickets
autosomal dominant ichthyosis vulgaris +
autosomal dominant intermediate Charcot-Marie-Tooth disease +
autosomal dominant Kenny-Caffey syndrome
autosomal dominant keratitis
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
autosomal dominant medullary cystic kidney disease with or without hyperuricemia +
autosomal dominant myoglobinuria
autosomal dominant nonsyndromic hearing loss +
autosomal dominant oculocutaneous albinism
autosomal dominant omodysplasia
autosomal dominant optic atrophy +
autosomal dominant osteopetrosis +
Autosomal dominant polycystic kidney disease +
autosomal dominant polycystic liver disease +
autosomal dominant popliteal pterygium syndrome
autosomal dominant primary microcephaly +
autosomal dominant prognathism
autosomal dominant progressive external ophthalmoplegia +
autosomal dominant proximal renal tubular acidosis
autosomal dominant proximal spinal muscular atrophy
autosomal dominant pure spastic paraplegia
autosomal dominant rhegmatogenous retinal detachment
autosomal dominant Robinow syndrome
autosomal dominant secondary polycythemia
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia
autosomal dominant spastic ataxia +
autosomal dominant spondylocostal dysostosis
autosomal dominant titinopathy +
autosomal dominant vibratory urticaria
autosomal recessive faciodigitogenital syndrome
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive multiple pterygium syndrome +
autosomal systemic lupus erythematosus type 16
Axenfeld-Rieger syndrome +
Bannayan-Riley-Ruvalcaba syndrome
BAP1-related tumor predisposition syndrome
basal cell carcinoma, susceptibility to, 7
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome +
Beemer-Ertbruggen syndrome
Birt-Hogg-Dube syndrome +
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome +
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
bone fragility with contractures, arterial rupture, and deafness
brachydactyly-syndactyly syndrome
brachydactyly-syndactyly-oligodactyly syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachytelephalangy-dysmorphism-Kallmann syndrome
branchio-oto-renal syndrome
branchiooculofacial syndrome
BRCA1-related cancer predisposition +
BRCA2-related cancer predisposition +
breast-ovarian cancer, familial, susceptibility to, 1
Brooke-Spiegler syndrome +
Buschke-Ollendorff syndrome
camptodactyly syndrome, Guadalajara type 1
camptodactyly syndrome, Guadalajara type 2
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Carney-Stratakis syndrome
cartilage-hair hypoplasia +
cataract-aberrant oral frenula-growth delay syndrome
CDH1-related diffuse gastric and lobular breast cancer syndrome
charcot-marie-tooth disease, axonal, type 2DD
CHEK2-related cancer predisposition
cherubism Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
chronic myelogenous leukemia +
chronic recurrent multifocal osteomyelitis +
cleft lip-retinopathy syndrome
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
cleft palate-lateral synechia syndrome
cochleosaccular degeneration-cataract syndrome
colorectal cancer, susceptibility to, 1
colorectal cancer, susceptibility to, 10
colorectal cancer, susceptibility to, 12
colorectal cancer, susceptibility to, 3
common variable immunodeficiency +
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
congenital vertebral-cardiac-renal anomalies syndrome +
contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
craniofacial-deafness-hand syndrome
craniolenticulosutural dysplasia
Crouzon syndrome-acanthosis nigricans syndrome
cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cyprus facial-neuromusculoskeletal syndrome
Dahlberg-Borer-Newcomer syndrome
DDX41-related hematologic malignancy predisposition syndrome
deafness-craniofacial syndrome
deficiency of adenosine deaminase 2 +
dermatofibrosarcoma protuberans
Desmoid-type fibromatosis +
developmental malformations-deafness-dystonia syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
diaphyseal medullary stenosis-bone malignancy syndrome
diffuse nonepidermolytic palmoplantar keratoderma
dislocation of the hip-dysmorphism syndrome
distal arthrogryposis type 2B1
Duane-radial ray syndrome +
dyskeratosis congenita, autosomal dominant 2
dyskeratosis congenita, autosomal dominant 3
early-onset autosomal dominant Alzheimer disease +
Ehlers-Danlos syndrome, classic type +
Ehlers-Danlos syndrome, kyphoscoliotic type 1
EMILIN-1-related connective tissue disease
encephalocraniocutaneous lipomatosis
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
epilepsy, early-onset, with or without developmental delay
erythroleukemia, familial, susceptibility to
familial atypical multiple mole melanoma syndrome
familial chilblain lupus +
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
familial isolated hyperparathyroidism +
familial isolated pituitary adenoma +
familial multiple fibrofolliculoma
familial rhabdoid tumor +
fetal akinesia deformation sequence +
fibrodysplasia ossificans progressiva
Fibulo-ulnar hypoplasia-renal anomalies syndrome
follicular lymphoma, susceptibility to, 1
Fontaine progeroid syndrome
frontofacionasal dysplasia
generalized juvenile polyposis/juvenile polyposis coli
genito-palato-cardiac syndrome
gingival fibromatosis-facial dysmorphism syndrome
glass-chapman-hockley syndrome
goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
GUCY2D-related dominant retinopathy +
hand-foot-genital syndrome
heart defect - tongue hamartoma - polysyndactyly syndrome
heart defects-limb shortening syndrome
heart-hand syndrome type 2
heart-hand syndrome, Slovenian type
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia +
hereditary leiomyomatosis and renal cell cancer
hereditary multiple osteochondromas +
hereditary nonpolyposis colon cancer +
hereditary periodic fever syndrome +
hereditary retinoblastoma
hereditary thrombocytopenia and hematologic cancer predisposition syndrome +
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-type D brachydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
Houge-Janssens syndrome 2
hydrocephaly-tall stature-joint laxity syndrome
hyper-IgE recurrent infection syndrome 1, autosomal dominant
hyperkeratosis-hyperpigmentation syndrome
hyperparathyroidism 2 with jaw tumors
hypertrichosis-acromegaloid facial appearance syndrome
hypopigmentation-punctate palmoplantar keratoderma syndrome
ichthyosis-oral and digital anomalies syndrome
idiopathic juvenile osteoporosis
IFIH1-related type 1 interferonopathy +
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +
IMPG1-related dominant retinopathy +
inclusion body myopathy and brain white matter abnormalities
infantile myofibromatosis +
inherited acute myeloid leukemia
intellectual developmental disorder 60 with seizures
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 14
intellectual disability, autosomal dominant 16
intellectual disability, autosomal dominant 29
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
intestinal polyposis syndrome +
isolated congenital adermatoglyphia
jugulotympanic paraganglioma +
juvenile cataract-microcornea-renal glucosuria syndrome
juvenile hyaline fibromatosis
Kaposi sarcoma, susceptibility to
lethal congenital contracture syndrome 1
lethal congenital contracture syndrome 2
lethal congenital contracture syndrome 3
leukemia, acute lymphoblastic, susceptibility to, 3
leukemia, acute myeloid, susceptibility to
macrocephaly-autism syndrome
macrosomia-microphthalmia-cleft palate syndrome
macrostomia-preauricular tags-external ophthalmoplegia syndrome
mandibuloacral dysplasia +
mandibulofacial dysostosis-microcephaly syndrome
Marfan and Marfan-related disorder +
McKusick-Kaufman syndrome
median nodule of the upper lip
melanoma, cutaneous malignant, susceptibility to, 2
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
mesomelic dwarfism-cleft palate-camptodactyly syndrome
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
microcephalic osteodysplastic dysplasia, Saul-Wilson type
microcephaly-albinism-digital anomalies syndrome
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-cardiac defect-lung malsegmentation syndrome
microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
mismatch repair cancer syndrome 1
mosaic variegated aneuploidy syndrome +
mullerian duct anomalies-limb anomalies syndrome
multinodular goiter-cystic kidney-polydactyly syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia +
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2B
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple self-healing squamous epithelioma
multiple symmetric lipomatosis
muscular dystrophy, limb-girdle, autosomal dominant +
Nager acrofacial dysostosis
nasopalpebral lipoma-coloboma syndrome
nasopharyngeal carcinoma, susceptibility to, 1
neonatal inflammatory skin and bowel disease +
neonatal severe primary hyperparathyroidism
nephrosis-deafness-urinary tract-digital malformations syndrome
neuroblastoma, susceptibility to, 1
neuroblastoma, susceptibility to, 2
neuroblastoma, susceptibility to, 3
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
neurohypophyseal diabetes insipidus
neuronopathy, distal hereditary motor, autosomal dominant +
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
night blindness-skeletal anomalies-dysmorphism syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
NOG-related symphalangism spectrum disorder +
Noonan syndrome with multiple lentigines
oculoauriculovertebral spectrum with radial defects +
orbit embryonal rhabdomyosarcoma
ossification of the posterior longitudinal ligament of the spine
otospondylomegaepiphyseal dysplasia, autosomal dominant
PALB2-related cancer predisposition
palmoplantar keratoderma-spastic paralysis syndrome
Papillary Craniopharyngioma
Pelger-Huet-like anomaly and episodic fever with abdominal pain
periodic fever syndrome +
polysyndactyly-cardiac malformation syndrome
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
primary basilar invagination
progeroid and marfanoid aspect-lipodystrophy syndrome
progeroid features-hepatocellular carcinoma predisposition syndrome
progressive non-infectious anterior vertebral fusion
PROM1-related dominant retinopathy +
proteosome-associated autoinflammatory syndrome +
Pubic Symphysis Diastasis
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Rare genetic bone development disorder +
renal-genital-middle ear anomalies
retinoschisis, autosomal dominant
Richieri Costa-da Silva syndrome
Richieri Costa-Pereira syndrome
RNU7-1-related type 1 interferonopathy +
Rothmund-Thomson syndrome +
scalp defects-postaxial polydactyly syndrome
scalp-ear-nipple syndrome
Scapuloperoneal spinal muscular atrophy
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
short stature-craniofacial anomalies-genital hypoplasia syndrome
short stature-valvular heart disease-characteristic facies syndrome
short tarsus-absence of lower eyelashes syndrome
Singleton-Merten dysplasia +
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
sodium channelopathy-related small fiber neuropathy
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
split hand-foot malformation 1 with sensorineural hearing loss
split-foot malformation-mesoaxial polydactyly syndrome
Spondyloenchondrodysplasia with immune dysregulation
spondyloepimetaphyseal dysplasia with multiple dislocations
spondyloepiphyseal dysplasia tarda, autosomal dominant
STING-associated vasculopathy with onset in infancy
susceptibility to familial cutaneous melanoma +
susceptibility to uveal melanoma
syndactyly-telecanthus-anogenital and renal malformations syndrome
systemic juvenile idiopathic arthritis
temtamy preaxial brachydactyly syndrome
tetraamelia-multiple malformations syndrome
thanatophoric dysplasia type 1
thrombophilia due to protein S deficiency, autosomal dominant
thymic-renal-anal-lung dysplasia
Treacher-Collins syndrome +
TREX1-related type 1 interferonopathy +
trichohepatoenteric syndrome
trichorhinophalangeal syndrome type I or III
trichorhinophalangeal syndrome type II
trigonocephaly-bifid nose-acral anomalies syndrome
tumor predisposition syndrome 2
type 1 interferonopathy +
van den Ende-Gupta syndrome
velo-facial-skeletal syndrome
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
Verloove Vanhorick-Brubakk syndrome
vertebral column disorder +
von Voss-Cherstvoy syndrome
Weill-Marchesani syndrome +
white forelock with malformations
X-linked reticulate pigmentary disorder
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