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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,XX disorder of sex development-anorectal anomalies syndrome
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
5q14.3 microdeletion syndrome
6q terminal deletion syndrome
7p22.1 microduplication syndrome
8p23.1 microdeletion syndrome
8q24.3 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia-alacrima syndrome
acrocardiofacial syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Catania type
acrofrontofacionasal dysostosis 2
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute respiratory distress syndrome +
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
agnathia-otocephaly complex
ALDH18A1-related de Barsy syndrome
Alkuraya-Kucinskas syndrome
alopecia - intellectual disability syndrome
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
alpha 1-antitrypsin deficiency
alpha thalassemia-intellectual disability syndrome type 1
alpha-thalassemia-myelodysplastic syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
alveolar capillary dysplasia with misalignment of pulmonary veins
angioosteohypertrophic syndrome
angioosteohypotrophic syndrome
aniridia - intellectual disability syndrome
aniridia-absent patella syndrome
aniridia-cerebellar ataxia-intellectual disability syndrome
aniridia-ptosis-intellectual disability-familial obesity syndrome
aniridia-renal agenesis-psychomotor retardation syndrome
ankyloblepharon filiforme adnatum-cleft palate syndrome
ankyloblepharon filiforme-imperforate anus syndrome
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
anterior segment dysgenesis +
anterior spinal artery syndrome
antiphospholipid syndrome
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
aplasia cutis congenita-intestinal lymphangiectasia syndrome
aplasia of lacrimal and salivary glands
arachnodactyly-abnormal ossification-intellectual disability syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome
ataxia - telangiectasia variant
atrial conduction disease
atrial heart septal defect +
atrial septal defect, coronary sinus type
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
atypical hemolytic-uremic syndrome +
autism spectrum disorder - epilepsy - arthrogryposis syndrome
autism spectrum disorder due to AUTS2 deficiency
autism-facial port-wine stain syndrome
autoimmune polyendocrinopathy +
autoimmune/inflammatory optic neuropathy +
autoinflammatory syndrome +
autosomal dominant cataract
autosomal dominant chondrodysplasia punctata +
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal recessive cutis laxa type 2 +
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
autosomal recessive multiple pterygium syndrome +
autosomal recessive spinocerebellar ataxia 20
autosomal recessive spondylocostal dysostosis
Axenfeld-Rieger syndrome +
axial mesodermal dysplasia spectrum
B4GALT1-congenital disorder of glycosylation
Bamforth-Lazarus syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
Basilicata-Akhtar syndrome
bird headed-dwarfism, Montreal type
Birt-Hogg-Dube syndrome +
blepharonasofacial malformation syndrome
blepharophimosis - intellectual disability syndrome +
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
blindness - scoliosis - arachnodactyly syndrome
Bonnemann-Meinecke-Reich syndrome
brachydactyly-arterial hypertension syndrome
brachydactyly-mesomelia-intellectual disability-heart defects syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachytelephalangy-dysmorphism-Kallmann syndrome
brain abnormalities, neurodegeneration, and dysosteosclerosis
brain malformation-congenital heart disease-postaxial polydactyly syndrome
brain-lung-thyroid syndrome
branchio-oto-renal syndrome
Buschke-Ollendorff syndrome
Camurati-Engelmann disease
cardiac anomalies - developmental delay - facial dysmorphism syndrome
cardiac valvular dysplasia, X-linked
Cardiac-urogenital syndrome
cardiocranial syndrome, Pfeiffer type
cardioectodermal syndrome +
cardiofaciocutaneous syndrome
cardiomyopathy-cataract-hip spine disease syndrome
cataract - microcornea syndrome
cataract-deafness-hypogonadism syndrome
cataract-glaucoma syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
cataract-nephropathy-encephalopathy syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +
caudal appendage-deafness syndrome
caudal regression-sirenomelia spectrum +
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
central hypoventilation syndrome, late-onset
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
central sleep apnea syndrome +
cerebellar ataxia, intellectual disability, and dysequilibrium
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
cerebrocostomandibular syndrome
cerebrooculonasal syndrome
Cerebrorenodigital syndrome
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
chondrodysplasia-pseudohermaphroditism syndrome
chondroectodermal dysplasia with night blindness
choroidal neovascularization
chromosome 13q14 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 17p13.3 duplication syndrome
chromosome 17q21.31 duplication syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion 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
chronic atrial and intestinal dysrhythmia
circumscribed cutaneous aplasia of the vertex
cleft lip-retinopathy syndrome
cleft lip/palate-deafness-sacral lipoma syndrome
cleft palate-short stature-vertebral anomalies syndrome
cleidocranial dysplasia 1
cleidorhizomelic syndrome
cochleosaccular degeneration-cataract syndrome
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
COG7-congenital disorder of glycosylation
colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
complex cortical dysplasia with other brain malformations 7
complex hereditary spastic paraplegia +
congenital cataract-ichthyosis syndrome
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 hereditary facial paralysis-variable hearing loss syndrome
congenital ichthyosis-microcephalus-tetraplegia syndrome
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital myasthenic syndrome +
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
congenital vertebral-cardiac-renal anomalies syndrome +
corneal dystrophy-perceptive deafness syndrome
corneal-cerebellar syndrome
Cornelia de Lange syndrome
coronary artery disease, autosomal dominant 2
corpus callosum agenesis-abnormal genitalia syndrome
cortical blindness-intellectual disability-polydactyly syndrome
cortical dysplasia-focal epilepsy syndrome
corticobasal degeneration disorder
craniodigital syndrome-intellectual disability syndrome
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofaciofrontodigital syndrome
craniofrontonasal syndrome
creatine transporter deficiency
Crigler-Najjar syndrome +
cryptorchidism-arachnodactyly-intellectual disability syndrome
cutis laxa, autosomal dominant 3
cystic fibrosis-gastritis-megaloblastic anemia syndrome
de Sanctis-Cacchione syndrome
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
deafness-hypogonadism syndrome
deafness-infertility syndrome
deafness-intellectual disability, Martin-Probst type syndrome
deafness-lymphedema-leukemia syndrome
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
dermochondrocorneal dystrophy
DeSanto-Shinawi syndrome +
developmental and epileptic encephalopathy, 18
developmental and speech delay due to SOX5 deficiency
developmental defect of the eye +
dextro-looped transposition of the great arteries +
diabetes, deafness, developmental delay, and short stature syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
DICER1-related tumor predisposition +
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
digital anomalies-intellectual disability-short stature syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1E
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
disappearing bone disease +
distal 17p13.1 microdeletion syndrome
diverticulosis of bowel, hernia, and retinal detachment
DK1-congenital disorder of glycosylation
double uterus-hemivagina-renal agenesis syndrome
Duane retraction syndrome +
Duane-radial ray syndrome +
Dyggve-Melchior-Clausen disease +
DYRK1A-related intellectual disability syndrome +
dyschondrosteosis-nephritis syndrome
dysmorphism-short stature-deafness-disorder of sex development syndrome
dyssegmental dysplasia-glaucoma syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
ectodermal dysplasia syndrome +
ectodermal dysplasia-blindness syndrome
ectrodactyly-polydactyly syndrome
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, spondylodysplastic type +
Ellis-van Creveld syndrome
encephalopathy due to sulfite oxidase deficiency +
enlarged vestibular aqueduct syndrome
epidermolysis bullosa simplex 5B, with muscular dystrophy
epilepsy-microcephaly-skeletal dysplasia syndrome
epilepsy-telangiectasia syndrome
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
eye accommodation disease +
eye degenerative disorder +
eye infectious disorder +
Eye Injuries, Penetrating
eyebrow duplication-syndactyly syndrome
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
facial dysmorphism-shawl scrotum-joint laxity syndrome
faciocardiorenal syndrome
faciodigitogenital syndrome +
fallot complex-intellectual disability-growth delay syndrome
familial atrial fibrillation +
familial atrioventricular septal defect +
familial bicuspid aortic valve
familial cardiomyopathy +
familial cavitary optic disk anomaly
familial chylomicronemia syndrome +
familial episodic pain syndrome with predominantly lower limb involvement
familial infantile bilateral striatal necrosis
familial intestinal malrotation-facial anomalies syndrome
familial long QT syndrome +
familial osteodysplasia, Anderson type
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
familial retinal arterial macroaneurysm
familial sick sinus syndrome +
Fanconi renotubular syndrome +
fatty acyl-CoA reductase 1 deficiency
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
ferro-cerebro-cutaneous syndrome
fetal akinesia deformation sequence +
fetal enterovirus syndrome
fibromatosis multiple non ossifying
fibular aplasia-ectrodactyly syndrome
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
fragile X-associated tremor/ataxia syndrome
frontofacionasal dysplasia
Gabriele de Vries syndrome
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes +
gingival fibromatosis-facial dysmorphism syndrome
glaucoma-sleep apnea syndrome
global developmental delay with or without impaired intellectual development
global developmental delay, progressive ataxia, and elevated glutamine
global developmental delay-osteopenia-ectodermal defect syndrome
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
glycosylphosphatidylinositol biosynthesis defect 15
Goldberg-Shprintzen syndrome
Greig cephalopolysyndactyly syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
growth delay-hydrocephaly-lung hypoplasia syndrome
growth hormone insensitivity syndrome +
growth retardation-mild developmental delay-chronic hepatitis syndrome
Grubben-de Cock-Borghgraef syndrome
Guillain-Barre syndrome +
hair defect with photosensitivity and intellectual disability syndrome
hand-foot-genital syndrome
hantavirus pulmonary syndrome
Hartsfield-Bixler-Demyer syndrome
hearing impairment and infertile male syndrome
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
heart defects-limb shortening syndrome
hemophagocytic syndrome +
hepatic fibrosis-renal cysts-intellectual disability syndrome
hereditary benign intraepithelial dyskeratosis
hereditary continuous muscle fiber activity
hereditary hyperferritinemia with congenital cataracts
hereditary optic neuropathy +
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
hereditary sensory and autonomic neuropathy with deafness and global delay
Hernández-Aguirre Negrete syndrome
high myopia-sensorineural deafness syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
hirsutism-skeletal dysplasia-intellectual disability syndrome
Hogue-Janssens syndrome 1
holoprosencephaly-postaxial polydactyly syndrome
holoprosencephaly-radial heart renal anomalies syndrome
Holzgreve-Wagner-Rehder syndrome
Houge-Janssens syndrome +
Houge-Janssens syndrome 2
Hutchinson-Gilford progeria syndrome
hydrocephalus-blue sclerae-nephropathy syndrome
hydrocephalus-obesity-hypogonadism syndrome
hydrocephaly-cerebellar agenesis syndrome
Hypereosinophilic syndrome +
hypergonadotropic hypogonadism-cataract syndrome
hyperphosphatasia-intellectual disability syndrome
hypertelorism, microtia, facial clefting syndrome
hypertrichotic osteochondrodysplasia Cantu type
hypogonadism-mitral valve prolapse-intellectual disability syndrome
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
hypospadias-intellectual disability, Goldblatt type syndrome
hypotonia, infantile, with psychomotor retardation and characteristic facies +
hypotonia-cystinuria syndrome +
hypotrichosis-deafness syndrome
hypotrichosis-intellectual disability, Lopes type
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
ichthyosis linearis circumflexa
ichthyosis prematurity syndrome
ichthyosis-cheek-eyebrow syndrome
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ichthyosis-oral and digital anomalies syndrome
IgG4-related ophthalmic disorder +
Imerslund-Grasbeck syndrome +
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
imperforate oropharynx-costo vetebral anomalies syndrome
inborn mitochondrial metabolism disorder +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile convulsions and choreoathetosis
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inflammatory bowel disease, immunodeficiency, and encephalopathy
infundibulopelvic stenosis-multicystic kidney syndrome
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 developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with macrocephaly, seizures, and speech delay
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual developmental disorder, autosomal recessive 72
intellectual disability, autosomal dominant 29
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-cardiac anomalies-short stature-joint laxity syndrome
intellectual disability-cataracts-kyphosis syndrome
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-expressive aphasia-facial dysmorphism 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-hypotonia-skin hyperpigmentation syndrome
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
intellectual disability-obesity-brain malformations-facial dysmorphism 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
intellectual disability-strabismus syndrome
iridocorneal endothelial syndrome +
ischio-vertebral syndrome
isolated ankyloblepharon filiforme adnatum
isolated anophthalmia-microphthalmia syndrome +
isolated Pierre-Robin syndrome
Johanson-Blizzard syndrome
Johnson neuroectodermal syndrome
joint laxity, short stature, and myopia
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect +
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Koolen-de Vries syndrome +
lacrimal apparatus disease +
Landau-Kleffner syndrome +
Larsen-like syndrome, B3GAT3 type
laryngeal abductor paralysis-intellectual disability syndrome
laryngo-onycho-cutaneous syndrome
lateral medullary syndrome
left ventricular noncompaction +
left-right axis malformations
Lennox-Gastaut syndrome +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome 1
lethal hemolytic anemia-genital anomalies syndrome
lethal multiple pterygium syndrome +
lethal omphalocele-cleft palate syndrome
LMNA-related cardiocutaneous progeria syndrome
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
lower limb deficiency-hypospadias syndrome
Lown-Ganong-Levine syndrome
LTBP2-related ocular dysgenesis +
lung agenesis-heart defect-thumb anomalies syndrome
lymphedema-atrial septal defects-facial changes syndrome
lymphedema-cerebral arteriovenous anomaly syndrome
lymphedema-distichiasis syndrome
macrocephaly-developmental delay syndrome
macrocephaly-short stature-paraplegia syndrome
macrocephaly-spastic paraplegia-dysmorphism syndrome
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
mandibuloacral dysplasia +
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis-microcephaly syndrome
marfanoid habitus-autosomal recessive intellectual disability syndrome
Marinesco-Sjogren syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephaly-polydactyly syndrome
megalocornea-intellectual disability syndrome
Melkersson-Rosenthal syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
mesomelic dwarfism-cleft palate-camptodactyly syndrome
metaphyseal chondrodysplasia, Jansen type
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
MGAT2-congenital disorder of glycosylation
microbrachycephaly-ptosis-cleft lip syndrome
microcephalic osteodysplastic primordial dwarfism types I and III +
microcephalic primordial dwarfism
microcephalic primordial dwarfism due to RTTN deficiency +
microcephalic primordial dwarfism, Alazami type
microcephalic primordial dwarfism, Toriello type
microcephaly and chorioretinopathy 1
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-brain defect-spasticity-hypernatremia syndrome
microcephaly-capillary malformation syndrome
microcephaly-cardiomyopathy syndrome
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
microcephaly-cervical spine fusion anomalies syndrome
microcephaly-cleft palate syndrome
microcephaly-complex motor and sensory axonal neuropathy 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
microcornea-corectopia-macular hypoplasia syndrome
microcornea-glaucoma-absent frontal sinuses syndrome
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
microlissencephaly-micromelia syndrome
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
microtriplication 11q24.1
Mikati-Najjar-Sahli syndrome
Miller-Dieker lissencephaly syndrome
mirror polydactyly-vertebral segmentation-limbs defects syndrome
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mitochondrial neurogastrointestinal encephalomyopathy
motor developmental delay due to 14q32.2 paternally expressed gene defect +
MPI-congenital disorder of glycosylation
mucopolysaccharidosis type 1 +
mucopolysaccharidosis type 2 +
mucopolysaccharidosis type 3 +
mucopolysaccharidosis type 4 +
mucopolysaccharidosis type 6 +
mucopolysaccharidosis-plus syndrome
mullerian derivatives-lymphangiectasia-polydactyly syndrome
mullerian duct anomalies-limb anomalies syndrome
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly 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
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
multiple synostoses syndrome +
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
muscular pseudohypertrophy-hypothyroidism syndrome
myoclonic-astatic epilepsy
myopathy-growth delay-intellectual disability-hypospadias syndrome
Nager acrofacial dysostosis
nasopalpebral lipoma-coloboma syndrome
neonatal aspiration syndrome +
neonatal ichthyosis-sclerosing cholangitis syndrome
nephrogenic diabetes insipidus-intracranial calcification syndrome
nephropathy - deafness - hyperparathyroidism syndrome
nephrosis-deafness-urinary tract-digital malformations syndrome
neurodevelopmental disorder with absent language and variable seizures
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome +
neuroectodermal-endocrine syndrome
neurofaciodigitorenal syndrome
neuroleptic malignant syndrome
neurooculocardiogenitourinary syndrome
Niemann-Pick disease type A
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
nodular neuronal heterotopia +
Non-accomodative esotropia
Noonan syndrome with multiple lentigines
O'Donnell-Luria-Rodan syndrome
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
obstructive sleep apnea +
ocular motility disease +
ocular motor apraxia, Cogan type
ocular posterior capsular rupture
ocular vascular disease +
oculo-palato-cerebral syndrome
oculo-skeletal-renal syndrome
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
oculocerebrorenal syndrome
oculodental syndrome, Rutherfurd type
oculodentodigital dysplasia +
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis +
oculomucocutaneous syndrome
olivopontocerebellar atrophy-deafness syndrome
omphalocele syndrome, Shprintzen-Goldberg type
ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Opsoclonus-Myoclonus Syndrome
ornithine translocase deficiency
orofaciodigital syndrome I
orofaciodigital syndrome type 14
oromandibular-limb anomalies syndrome +
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteopenia-intellectual disability-sparse hair syndrome
osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
osteoporosis-pseudoglioma syndrome
osteosclerosis-ichthyosis-premature ovarian failure syndrome
otopalatodigital syndrome type 1
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma-esophageal carcinoma syndrome
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parana hard-skin syndrome
paraneoplastic syndrome +
paraplegia-intellectual disability-hyperkeratosis syndrome
parkinsonism-dystonia, infantile +
patent ductus arteriosus 2
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
pericardial effusion, chronic
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
peroxisome biogenesis disorder +
Peters plus syndrome An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
Pfeiffer-Palm-Teller syndrome
phakomatosis pigmentovascularis +
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
pigment dispersion syndrome
pili torti-developmental delay-neurological abnormalities syndrome
Pitt-Hopkins-like syndrome +
pituitary stalk interruption syndrome
PMP22-RAI1 contiguous gene duplication syndrome
polycystic ovary syndrome
polydactyly-macrocephaly syndrome
polydactyly-myopia syndrome
polyendocrine-polyneuropathy syndrome
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
pontocerebellar hypoplasia type 1
popliteal pterygium syndrome +
post-infectious syndrome +
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
preaxial polydactyly-colobomata-intellectual disability syndrome
primary ciliary dyskinesia +
primary hypergonadotropic hypogonadism-partial alopecia syndrome
primary hypertrophic osteoarthropathy +
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
progeria-short stature-pigmented nevi syndrome
progressive familial heart block +
progressive familial intrahepatic cholestasis +
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
progressive supranuclear palsy +
prominent glabella-microcephaly-hypogenitalism syndrome
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
pseudoaminopterin syndrome
pseudohypoparathyroidism +
pterygium colli-intellectual disability-digital anomalies syndrome
ptosis-strabismus-ectopic pupils syndrome
ptosis-syndactyly-learning difficulties syndrome
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ptosis-vocal cord paralysis syndrome
Rabson-Mendenhall syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
radioulnar synostosis-developmental delay-hypotonia syndrome
radioulnar synostosis-microcephaly-scoliosis syndrome
Rare genetic eye disease +
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
reflex sympathetic dystrophy
renal cysts and diabetes syndrome
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Reunion island Larsen syndrome
RFT1-congenital disorder of glycosylation
rhizomelic chondrodysplasia punctata +
Ritscher-Schinzel syndrome +
RNU4ATAC spectrum disorder +
Roberts-SC phocomelia syndrome
Rothmund-Thomson syndrome type 2
Rubinstein Taybi like syndrome
Rubinstein-Taybi syndrome +
Say-Barber-Miller syndrome
scalp defects-postaxial polydactyly syndrome
Schmid metaphyseal chondrodysplasia
Schuurs-Hoeijmakers syndrome
Schwartz-Jampel syndrome +
severe dermatitis-multiple allergies-metabolic wasting syndrome
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
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
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
short fifth metacarpals-insulin resistance syndrome
short rib-polydactyly syndrome +
short stature and microcephaly with genital anomalies
short stature-brachydactyly-obesity-global developmental delay syndrome
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
short stature-webbed neck-heart disease syndrome
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
shoulder and girdle defects-familial intellectual disability syndrome
Shprintzen-Goldberg syndrome
Shwachman-Diamond syndrome
sickle cell-beta-thalassemia disease syndrome
sickle cell-hemoglobin c disease syndrome
sickle cell-hemoglobin d disease syndrome
sickle cell-hemoglobin E disease syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome +
SIN3A-related intellectual disability syndrome
sinoatrial node dysfunction and deafness
skeletal dysplasia-epilepsy-short stature syndrome
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
SLC35A2-congenital disorder of glycosylation
Smith-Lemli-Opitz syndrome
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
spastic ataxia-corneal dystrophy syndrome
spastic paraplegia-severe developmental delay-epilepsy syndrome
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
spina bifida-hypospadias syndrome
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
SSR4-congenital disorder of glycosylation
Stankiewicz-Isidor syndrome
sterol biosynthesis disorder +
structural congenital heart disease, multiple types - GATA4 +
subacute myelo-opticoneuropathy
subaortic stenosis-short stature syndrome
subclavian steal syndrome
subcortical band heterotopia +
substance withdrawal syndrome +
supravalvular aortic stenosis
syndactyly-polydactyly-ear lobe syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic agammaglobulinemia +
syndromic congenital sodium diarrhea
syndromic craniosynostosis +
syndromic intellectual disability +
syndromic microphthalmia +
syndromic multisystem autoimmune disease due to ITCH deficiency
syndromic oculocutaneous albinism +
syndromic orbital border hypoplasia
syndromic recessive X-linked ichthyosis
syndromic retinitis pigmentosa
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
syngnathia multiple anomalies
tall stature-intellectual disability-renal anomalies syndrome
tall stature-scoliosis-macrodactyly of the great toes syndrome
Tatton-Brown-Rahman overgrowth syndrome
telecanthus-hypertelorism-strabismus-pes cavus syndrome
temtamy preaxial brachydactyly syndrome
tethered spinal cord syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
thoracic outlet syndrome +
thoraco-abdominal enteric duplication
thrombocytopenia-absent radius syndrome
thyrocerebrorenal syndrome
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Treacher-Collins syndrome +
trichorhinophalangeal syndrome type II
trigonocephaly-short stature-developmental delay syndrome
tubular renal disease-cardiomyopathy syndrome
ulnar hypoplasia-split foot syndrome
umbilical cord ulceration-intestinal atresia syndrome
upper limb defect-eye and ear abnormalities syndrome
urban-Rogers-Meyer syndrome
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL with hydrocephalus +
VACTERL/vater association +
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
Waterhouse-Friderichsen syndrome
Weill-Marchesani syndrome +
Wernicke-Korsakoff syndrome
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Wolcott-Rallison syndrome
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked cone dysfunction syndrome with myopia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked ichthyosis 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
X-linked lissencephaly with abnormal genitalia
X-linked mandibulofacial dysostosis
X-linked spasticity-intellectual disability-epilepsy syndrome
xeroderma pigmentosum-Cockayne syndrome complex +
xerosis and growth failure with immune and pulmonary dysfunction syndrome
Xp22.13p22.2 duplication syndrome
XYLT1-congenital disorder of glycosylation
Yuksel-Vogel-Bauer syndrome
Zellweger spectrum disorders +
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