|
|
11p15.4 microduplication syndrome
14q24.1q24.3 microdeletion syndrome
15q overgrowth syndrome +
19p13.3 microduplication syndrome
20p13 microdeletion syndrome
20q11.2 microdeletion syndrome
20q11.2 microduplication syndrome
2p13.2 microdeletion syndrome
3q27.3 microdeletion syndrome
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
5q14.3 microdeletion syndrome
7p22.1 microduplication syndrome
8q24.3 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
acrocardiofacial syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Catania type
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
agnathia-otocephaly complex
ALDH18A1-related de Barsy syndrome
alveolar capillary dysplasia with misalignment of pulmonary veins
anemia, nonspherocytic hemolytic, due to G6PD deficiency
aniridia-renal agenesis-psychomotor retardation syndrome
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
arachnodactyly-abnormal ossification-intellectual disability syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome +
atrial conduction disease
atrial heart septal defect +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autism spectrum disorder due to AUTS2 deficiency
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal recessive cutis laxa type 2 +
autosomal recessive spinocerebellar ataxia 20
B4GALT1-congenital disorder of glycosylation
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
bird headed-dwarfism, Montreal type
blepharonasofacial malformation syndrome
blepharophimosis - intellectual disability syndrome +
Bonnemann-Meinecke-Reich syndrome
brachydactyly-mesomelia-intellectual disability-heart defects syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
brain malformation-congenital heart disease-postaxial polydactyly syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac valvular dysplasia, X-linked
cardiocranial syndrome, Pfeiffer type
cardiofaciocutaneous syndrome +
cataract-deafness-hypogonadism syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
caudal appendage-deafness syndrome
cerebrooculonasal syndrome
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q21.31 duplication syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
cleft palate-short stature-vertebral anomalies syndrome
COG1-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
complex cortical dysplasia with other brain malformations 7
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
congenital cataracts-facial dysmorphism-neuropathy syndrome
congenital heart defect-round face-developmental delay syndrome
congenital heart defects, multiple types, 3
congenital heart defects, multiple types, 5
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
congenital vertebral-cardiac-renal anomalies syndrome +
Cornelia de Lange syndrome
coronary artery disease, autosomal dominant 2
cortical blindness-intellectual disability-polydactyly syndrome
craniodigital syndrome-intellectual disability syndrome
craniofaciofrontodigital syndrome
creatine transporter deficiency
cryptorchidism-arachnodactyly-intellectual disability syndrome
cutis laxa, autosomal dominant 3
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
DeSanto-Shinawi syndrome +
developmental and epileptic encephalopathy, 18
dextro-looped transposition of the great arteries +
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
distal 17p13.1 microdeletion syndrome
DYRK1A-related intellectual disability syndrome +
dysmorphism-short stature-deafness-disorder of sex development syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, spondylodysplastic type +
Ellis-van Creveld syndrome
encephalopathy due to sulfite oxidase deficiency +
epilepsy-microcephaly-skeletal dysplasia syndrome
epilepsy-telangiectasia syndrome
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
facial dysmorphism-shawl scrotum-joint laxity syndrome
faciocardiorenal syndrome
fallot complex-intellectual disability-growth delay syndrome
familial atrial fibrillation +
familial atrioventricular septal defect +
familial bicuspid aortic valve
familial cardiomyopathy +
familial long QT syndrome +
familial retinal arterial macroaneurysm
familial sick sinus syndrome +
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Gabriele de Vries syndrome
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes +
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
glycosylphosphatidylinositol biosynthesis defect 15
Goldberg-Shprintzen syndrome
Hartsfield-Bixler-Demyer syndrome
heart defects-limb shortening syndrome
Hernández-Aguirre Negrete syndrome
hirsutism-skeletal dysplasia-intellectual disability syndrome
Hogue-Janssens syndrome 1
holoprosencephaly-postaxial polydactyly syndrome
holoprosencephaly-radial heart renal anomalies syndrome
Houge-Janssens syndrome 2
hyperphosphatasia-intellectual disability syndrome
hypertelorism, microtia, facial clefting syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypospadias-intellectual disability, Goldblatt type syndrome
hypotonia, infantile, with psychomotor retardation and characteristic facies +
inborn mitochondrial metabolism disorder +
inherited mitral valve disease +
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
intellectual disability, autosomal dominant 47
intellectual disability, Buenos-Aires type
intellectual disability, Wolff type
intellectual disability-balding-patella luxation-acromicria syndrome
intellectual disability-brachydactyly-Pierre Robin syndrome
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
intellectual disability-facial dysmorphism-hand anomalies syndrome
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
intellectual disability-polydactyly-uncombable hair syndrome
intellectual disability-seizures-macrocephaly-obesity syndrome
intellectual disability-short stature-hypertelorism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intellectual disability-spasticity-ectrodactyly syndrome
isolated sedoheptulokinase deficiency
Johanson-Blizzard syndrome
Johnson neuroectodermal syndrome
KAT6B-related multiple congenital anomalies syndrome
Koolen-de Vries syndrome +
Larsen-like syndrome, B3GAT3 type
Lenz-Majewski hyperostotic dwarfism
lethal multiple pterygium syndrome +
lethal omphalocele-cleft palate syndrome
LMNA-related cardiocutaneous progeria syndrome
macrocephaly-developmental delay syndrome
macrocephaly-short stature-paraplegia syndrome
macrocephaly-spastic paraplegia-dysmorphism syndrome
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
mandibuloacral dysplasia +
mandibulofacial dysostosis-microcephaly syndrome
marfanoid habitus and intellectual disability
marfanoid habitus-autosomal recessive intellectual disability syndrome
MGAT2-congenital disorder of glycosylation
microbrachycephaly-ptosis-cleft lip syndrome
microcephalic primordial dwarfism
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-cardiomyopathy syndrome
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
microcephaly-cervical spine fusion anomalies syndrome
microcephaly-cleft palate syndrome
microcephaly-deafness-intellectual disability syndrome
microcephaly-glomerulonephritis-marfanoid habitus syndrome
microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
microcephaly-microcornea syndrome, Seemanova type
microcephaly-seizures-intellectual disability-heart disease syndrome
microcephaly-thin corpus callosum-intellectual disability syndrome
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
microtriplication 11q24.1
mucopolysaccharidosis-plus syndrome
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect +
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome +
neuroectodermal-endocrine syndrome
neurofaciodigitorenal syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
oculo-palato-cerebral syndrome
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
omphalocele syndrome, Shprintzen-Goldberg type
ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
orofaciodigital syndrome type 14
osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
patent ductus arteriosus 2
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
pericardial effusion, chronic
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pfeiffer-Palm-Teller syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Pitt-Hopkins-like syndrome +
pontocerebellar hypoplasia type 1
preaxial polydactyly-colobomata-intellectual disability syndrome
progressive familial heart block +
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
prominent glabella-microcephaly-hypogenitalism syndrome
pseudoaminopterin syndrome
pseudohypoparathyroidism +
pterygium colli-intellectual disability-digital anomalies syndrome
ptosis-syndactyly-learning difficulties syndrome
pulmonary hypertension, primary, autosomal recessive
radioulnar synostosis-developmental delay-hypotonia syndrome
RFT1-congenital disorder of glycosylation
ribose-5-P isomerase deficiency
Ritscher-Schinzel syndrome +
Rubinstein-Taybi syndrome +
Say-Barber-Miller syndrome
Schuurs-Hoeijmakers syndrome
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
severe intellectual disability-progressive spastic diplegia syndrome
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
short stature-brachydactyly-obesity-global developmental delay syndrome
short stature-webbed neck-heart disease syndrome
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Shprintzen-Goldberg syndrome
SIN3A-related intellectual disability syndrome
sinoatrial node dysfunction and deafness
Skraban-Deardorff syndrome
SLC35A2-congenital disorder of glycosylation
Smith-Lemli-Opitz syndrome
spastic paraplegia-severe developmental delay-epilepsy syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
SSR4-congenital disorder of glycosylation
sterol biosynthesis disorder +
structural congenital heart disease, multiple types - GATA4 +
supravalvular aortic stenosis
syndromic multisystem autoimmune disease due to ITCH deficiency
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Lubs type +
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Siderius type
tall stature-intellectual disability-renal anomalies syndrome
Tatton-Brown-Rahman overgrowth syndrome
telecanthus-hypertelorism-strabismus-pes cavus syndrome
temtamy preaxial brachydactyly syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
trichorhinophalangeal syndrome type II
upper limb defect-eye and ear abnormalities syndrome
urban-Rogers-Meyer syndrome
uveal coloboma-cleft lip and palate-intellectual disability
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
ventricular fibrillation, paroxysmal familial, type 1
ventricular septal defect +
ventricular tachycardia, familial +
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-plagiocephaly syndrome
Xp22.13p22.2 duplication syndrome
XYLT1-congenital disorder of glycosylation
Zellweger spectrum disorders +
|
|
