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2-hydroxyglutaric aciduria +
46,XX disorder of sex development-anorectal anomalies syndrome
6q terminal deletion syndrome
8p23.1 microdeletion syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia-alacrima syndrome
acrofrontofacionasal dysostosis 2
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute respiratory distress syndrome +
adult-onset nemaline myopathy
advanced sleep phase 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
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 compartment syndrome
anterior spinal artery syndrome
antiphospholipid syndrome
aplasia cutis congenita-intestinal lymphangiectasia syndrome
aplasia of lacrimal and salivary glands
arthrogryposis-renal dysfunction-cholestasis syndrome
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ataxia - telangiectasia variant
ATP1A3-associated neurological disorder +
atrial septal defect, coronary sinus type
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
atrioventricular node disease
atypical hemolytic-uremic syndrome +
autism-facial port-wine stain syndrome
autoimmune polyendocrinopathy +
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 hyper-IgE syndrome
Autosomal recessive hyper-IgE syndrome +
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
autosomal recessive multiple pterygium syndrome +
autosomal recessive non-syndromic intellectual disability +
Axenfeld-Rieger syndrome +
axial mesodermal dysplasia spectrum
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
Bamforth-Lazarus syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
Basilicata-Akhtar syndrome
benign familial infantile epilepsy +
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral striopallidodentate calcinosis +
bilirubin encephalopathy +
biotin-responsive basal ganglia disease
Birt-Hogg-Dube syndrome +
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Bonnemann-Meinecke-Reich syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
brachydactyly-arterial hypertension syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachytelephalangy-dysmorphism-Kallmann syndrome
brain abnormalities, neurodegeneration, and dysosteosclerosis
brain-lung-thyroid syndrome
branchio-oto-renal syndrome
Buschke-Ollendorff syndrome
Camurati-Engelmann disease
cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac-urogenital syndrome
cardioectodermal 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 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 amyloid angiopathy +
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
cerebral creatine deficiency syndrome +
cerebral lipidosis with dementia +
cerebrocostomandibular syndrome
Cerebrorenodigital syndrome
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Chiari malformation type I
Chiari malformation type II
childhood absence epilepsy
childhood apraxia of speech
childhood-onset nemaline myopathy +
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 13q14 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 2p16.3 deletion syndrome
chronic atrial and intestinal dysrhythmia
chronic central serous retinopathy
Chronic Eosinophilic Leukemia, Not Otherwise Specified
chronic fatigue syndrome A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)
chronic hepatitis B virus infection
chronic hepatitis C virus infection
chronic human papillomavirus infection
chronic inflammatory demyelinating polyneuropathy
chronic inflammatory demyelinating polyradiculoneuropathy
chronic lymphocytic leukemia +
chronic myeloproliferative disorder +
chronic progressive multiple sclerosis +
chronic venous insufficiency
circumscribed cutaneous aplasia of the vertex
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
cleft lip-retinopathy syndrome
cleft lip/palate-deafness-sacral lipoma syndrome
cleidocranial dysplasia 1
cleidorhizomelic syndrome
cochleosaccular degeneration-cataract syndrome
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
coloboma of optic nerve +
combined immunodeficiency +
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
complex hereditary spastic paraplegia +
conduction system disorder +
congenital cataract-ichthyosis syndrome
congenital hereditary facial paralysis-variable hearing loss syndrome
congenital hydrocephalus +
congenital ichthyosis-microcephalus-tetraplegia syndrome
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital myasthenic syndrome +
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
corneal dystrophy-perceptive deafness syndrome
corneal-cerebellar syndrome
Cornelia de Lange syndrome
corpus callosum agenesis-abnormal genitalia syndrome
cortical blindness-intellectual disability-polydactyly syndrome
cortical dysplasia-focal epilepsy syndrome
corticobasal degeneration disorder
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofrontonasal syndrome
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Crigler-Najjar syndrome +
cryptosporidiosis-chronic cholangitis-liver disease syndrome
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
dermochondrocorneal dystrophy
developmental and speech delay due to SOX5 deficiency
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 3B
disappearing bone disease +
diverticulosis of bowel, hernia, and retinal detachment
DK1-congenital disorder of glycosylation
DNA repair defect other than combined T-cell and B-cell immunodeficiencies +
double uterus-hemivagina-renal agenesis syndrome
Duane retraction syndrome +
Duane-radial ray syndrome +
Dyggve-Melchior-Clausen disease +
dyschondrosteosis-nephritis syndrome
dyskinesia with orofacial involvement, autosomal dominant
dyssegmental dysplasia-glaucoma syndrome
early myoclonic encephalopathy +
ectodermal dysplasia syndrome +
ectrodactyly-polydactyly syndrome
encephalopathy, acute, infection-induced +
enlarged vestibular aqueduct syndrome
epidermolysis bullosa simplex 5B, with muscular dystrophy
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
epileptic encephalopathy, infantile or early childhood +
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
eyebrow duplication-syndactyly syndrome
Facial dysmorphism - immunodeficiency - livedo - short stature
faciodigitogenital syndrome +
FADD-related immunodeficiency
familial chylomicronemia syndrome +
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
familial episodic pain syndrome with predominantly lower limb involvement
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial infantile bilateral striatal necrosis
familial intestinal malrotation-facial anomalies syndrome
familial isolated pituitary adenoma +
familial long QT syndrome +
familial osteodysplasia, Anderson type
familial partial epilepsy +
familial periodic paralysis +
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
Fanconi renotubular 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
folinic acid-responsive seizures
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
fragile X-associated tremor/ataxia syndrome
frontofacionasal dysplasia
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GATA2 deficiency with susceptibility to MDS/AML +
generalized epilepsy with febrile seizures plus +
Genetic neuromuscular disease +
Gerstmann-Straussler-Scheinker syndrome
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
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
Goldberg-Shprintzen syndrome
Greig cephalopolysyndactyly syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Griscelli syndrome type 1
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
hatipoglu immunodeficiency syndrome
hearing impairment and infertile male syndrome
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
hemophagocytic syndrome +
hepatic fibrosis-renal cysts-intellectual disability syndrome
Hepatic veno-occlusive disease - immunodeficiency
hereditary benign intraepithelial dyskeratosis
hereditary continuous muscle fiber activity
hereditary cryohydrocytosis with reduced stomatin
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary night blindness +
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
hereditary retinoblastoma
hereditary sensory and autonomic neuropathy with deafness and global delay
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
holocarboxylase synthetase deficiency
holoprosencephaly-postaxial polydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
Houge-Janssens syndrome +
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
Hutchinson-Gilford progeria syndrome
hydrocephalus-blue sclerae-nephropathy syndrome
hydrocephalus-obesity-hypogonadism syndrome
hydrocephaly-cerebellar agenesis syndrome
Hypereosinophilic syndrome +
hypergonadotropic hypogonadism-cataract syndrome
hypermanganesemia with dystonia 2
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-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
idiopathic CD4 lymphocytopenia
IKBKG-related immunodeficiency with or without ectodermal dysplasia +
Imerslund-Grasbeck syndrome +
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency 101 (varicella zoster virus-specific)
immunodeficiency 106, susceptibility to viral infections
immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
immunodeficiency 114, folate-responsive
immunodeficiency 14b, autosomal recessive
immunodeficiency 72 with autoinflammation
immunodeficiency 74, COVID-19-related, X-linked
immunodeficiency 78 with autoimmunity and developmental delay
immunodeficiency 80 with or without congenital cardiomyopathy
immunodeficiency 82 with systemic inflammation
immunodeficiency 87 and autoimmunity
immunodeficiency 89 and autoimmunity
immunodeficiency 91 and hyperinflammation
immunodeficiency 98 with autoinflammation, X-linked
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Immunodeficiency due to absence of thymus +
immunodeficiency due to CD25 deficiency
immunodeficiency due to selective anti-polysaccharide antibody deficiency
imperforate oropharynx-costo vetebral anomalies syndrome
inborn aminoacylase deficiency +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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 neurodegenerative disorder +
inherited orthostatic hypotension +
inherited reflex epilepsy +
inherited retinal dystrophy +
inherited vitreoretinopathy +
intellectual developmental disorder and retinitis pigmentosa
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
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 with speech delay, dysmorphic facies, and t-cell abnormalities
intellectual developmental disorder, autosomal recessive 72
intellectual disability, autosomal dominant +
intellectual disability, autosomal dominant 29
intellectual disability, autosomal recessive 53
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
intellectual disability-cataracts-kyphosis syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-expressive aphasia-facial dysmorphism syndrome
intellectual disability-hypotonia-skin hyperpigmentation syndrome
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
intellectual disability-severe speech delay-mild dysmorphism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intellectual disability-strabismus syndrome
intracranial berry aneurysm +
iridocorneal endothelial syndrome +
ischio-vertebral syndrome
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
joint laxity, short stature, and myopia
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect +
juvenile absence epilepsy
juvenile idiopathic arthritis +
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Landau-Kleffner syndrome +
laryngeal abductor paralysis-intellectual disability syndrome
laryngo-onycho-cutaneous syndrome
lateral medullary syndrome
lateral meningocele syndrome
left ventricular noncompaction +
left-right axis malformations
Lennox-Gastaut syndrome +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome 1
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
lethal hemolytic anemia-genital anomalies syndrome
lethal multiple pterygium syndrome +
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
lower limb deficiency-hypospadias syndrome
Lown-Ganong-Levine syndrome
lung agenesis-heart defect-thumb anomalies syndrome
lymphedema-atrial septal defects-facial changes syndrome
lymphedema-cerebral arteriovenous anomaly syndrome
lymphedema-distichiasis syndrome
lymphoproliferative syndrome 1
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
mandibulofacial dysostosis with alopecia
Marinesco-Sjogren syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
Medial Tibial Stress Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polydactyly syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +
Melkersson-Rosenthal syndrome
Mendelian neurodevelopmental disorder +
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
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
microcephalic osteodysplastic primordial dwarfism types I and III +
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-complex motor and sensory axonal neuropathy syndrome
microcephaly-microcornea syndrome, Seemanova type
microlissencephaly-micromelia syndrome
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mikati-Najjar-Sahli syndrome
Miller-Dieker lissencephaly syndrome
mirror polydactyly-vertebral segmentation-limbs defects syndrome
mismatch repair cancer syndrome 1
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mitochondrial neurogastrointestinal encephalomyopathy
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
motor developmental delay due to 14q32.2 paternally expressed gene defect +
MPI-congenital disorder of glycosylation
mucopolysaccharidosis type 2 +
mucopolysaccharidosis type 3 +
mucopolysaccharidosis type 4 +
mucopolysaccharidosis type 6 +
mullerian derivatives-lymphangiectasia-polydactyly syndrome
mullerian duct anomalies-limb anomalies syndrome
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple pterygium-malignant hyperthermia syndrome
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
multiple synostoses syndrome +
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
muscular pseudohypertrophy-hypothyroidism syndrome
myoclonic-astatic epilepsy
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopathy-growth delay-intellectual disability-hypospadias syndrome
myopic macular degeneration
myostatin-related muscle hypertrophy
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
neurocutaneous melanocytosis
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 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
neurohypophyseal diabetes insipidus
neuroleptic malignant syndrome
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
nodular neuronal heterotopia +
noise-induced hearing loss
nonsyndromic genetic hearing loss +
Noonan syndrome with multiple lentigines
NPHP3-related Meckel-like syndrome
O'Donnell-Luria-Rodan syndrome
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
obsessive-compulsive disorder
obstructive sleep apnea +
occipital pachygyria and polymicrogyria
oculo-skeletal-renal syndrome
oculocerebrocutaneous syndrome
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
oculocerebrorenal syndrome
oculodental syndrome, Rutherfurd type
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis +
olivopontocerebellar atrophy-deafness syndrome
ornithine translocase deficiency
orofaciodigital syndrome I
orofaciodigital syndrome type 6
oromandibular-limb anomalies syndrome +
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteopenia-intellectual disability-sparse hair syndrome
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
osteoporosis-pseudoglioma syndrome
osteosclerosis-ichthyosis-premature ovarian failure syndrome
otopalatodigital syndrome type 1
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 with polyneuropathy
parkinsonism-dystonia, infantile +
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
periventricular nodular heterotopia +
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
peroxisome biogenesis disorder +
phakomatosis pigmentokeratotica
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
pili torti-developmental delay-neurological abnormalities syndrome
pituitary stalk interruption syndrome
PMP22-RAI1 contiguous gene duplication syndrome
polycystic ovary syndrome
polydactyly-macrocephaly syndrome
polydactyly-myopia syndrome
polyendocrine-polyneuropathy syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
pontocerebellar hypoplasia +
popliteal pterygium syndrome +
post-infectious syndrome +
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
primary ciliary dyskinesia +
primary hypergonadotropic hypogonadism-partial alopecia syndrome
primary hypertrophic osteoarthropathy +
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
progeria-short stature-pigmented nevi syndrome
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive familial intrahepatic cholestasis +
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive myoclonus epilepsy +
progressive supranuclear palsy +
Prostate Rhabdomyosarcoma +
proximal myopathy with extrapyramidal signs
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
PRRT2-associated paroxysmal movement disorder +
ptosis-strabismus-ectopic pupils syndrome
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ptosis-vocal cord paralysis syndrome
pyogenic bacterial infections due to MyD88 deficiency
pyridoxal phosphate-responsive seizures
pyridoxine-dependent epilepsy +
qualitative or quantitative defects of alpha-sarcoglycan +
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +
qualitative or quantitative defects of beta-sarcoglycan +
qualitative or quantitative defects of delta-sarcoglycan +
qualitative or quantitative defects of desmin +
qualitative or quantitative defects of dysferlin +
qualitative or quantitative defects of gamma-sarcoglycan +
qualitative or quantitative defects of perlecan +
qualitative or quantitative defects of plectin +
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +
qualitative or quantitative defects of telethonin +
qualitative or quantitative defects of TRIM32 +
Rabson-Mendenhall syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
radioulnar synostosis-microcephaly-scoliosis syndrome
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
red-green color blindness
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
Ritscher-Schinzel syndrome +
RNU4ATAC spectrum disorder +
Roberts-SC phocomelia syndrome
Rubinstein Taybi like syndrome
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Say-Barber-Miller syndrome
scalp defects-postaxial polydactyly syndrome
Schinzel-Giedion syndrome
Schmid metaphyseal chondrodysplasia
Schwartz-Jampel syndrome +
SERAC1-related neurological disorder +
severe congenital nemaline myopathy +
severe dermatitis-multiple allergies-metabolic wasting syndrome
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
severe neonatal-onset encephalopathy with microcephaly
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
shoulder and girdle defects-familial intellectual disability 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
skeletal dysplasia-epilepsy-short stature syndrome
skeletal muscle disorder +
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
SLC6A3-related dopamine transporter deficiency syndrome +
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
SPAST-related motor disorder +
spastic ataxia-corneal dystrophy syndrome
spastic quadriplegic cerebral palsy +
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
specific language impairment +
spina bifida-hypospadias syndrome
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Stankiewicz-Isidor syndrome
subaortic stenosis-short stature syndrome
subclavian steal syndrome
subcortical band heterotopia +
substance withdrawal syndrome +
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 oculocutaneous albinism +
syndromic orbital border hypoplasia
syndromic retinitis pigmentosa
SYNGAP1-related developmental and epileptic encephalopathy
syngnathia multiple anomalies
T-cell immunodeficiency +
tall stature-scoliosis-macrodactyly of the great toes syndrome
temtamy preaxial brachydactyly syndrome
tethered spinal cord syndrome
TFRC-related combined immunodeficiency
TH-deficient dopa-responsive dystonia
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 +
trigonocephaly-short stature-developmental delay syndrome
TUBB3-related tubulinopathy +
tubular renal disease-cardiomyopathy syndrome
typical nemaline myopathy +
ulnar hypoplasia-split foot syndrome
umbilical cord ulceration-intestinal atresia syndrome
undetermined early-onset epileptic encephalopathy +
VACTERL with hydrocephalus +
VACTERL/vater association +
Waterhouse-Friderichsen syndrome
Weill-Marchesani syndrome +
Wernicke-Korsakoff syndrome
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann-Rautenstrauch 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 dominant chondrodysplasia, Chassaing-Lacombe type
X-linked ichthyosis syndrome +
X-linked immunoneurologic disorder
X-linked intellectual disability +
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
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
Yuksel-Vogel-Bauer syndrome
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