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17q11.2 microduplication syndrome
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
7q11.23 microduplication syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
absence deformity of leg-cataract syndrome
absent radius-anogenital anomalies syndrome
acetyl-CoA acetyltransferase-2 deficiency
acroleukopathy, symmetric
acroosteolysis-keloid-like lesions-premature aging syndrome
ACTH-independent macronodular adrenal hyperplasia 1
adenosine triphosphatase deficiency, anemia due to
aganglionosis, total intestinal
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agnathia-otocephaly complex
AKT3-related overgrowth spectrum +
alcohol sensitivity, acute
Alkuraya-Kucinskas syndrome
alopecia - intellectual disability syndrome
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
alpha-thalassemia-myelodysplastic syndrome
alveolar soft part sarcoma +
amelogenesis imperfecta +
androgen insensitivity syndrome +
anemia, hypochromic microcytic with iron overload +
angiokeratoma corporis diffusum with arteriovenous fistulas
angioosteohypertrophic syndrome
aniridia - intellectual disability syndrome
aniridia-absent patella syndrome
aniridia-renal agenesis-psychomotor retardation syndrome
anterior segment dysgenesis +
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
aplasia of lacrimal and salivary glands
apparent mineralocorticoid excess syndrome
arhinia, choanal atresia, and microphthalmia +
arterial calcification of infancy +
arteriovenous malformations of the brain
arthrogryposis multiplex congenita +
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
arthrogryposis, Perthes disease, and upward gaze palsy
asthma, nasal polyps, and aspirin intolerance
ataxia, intention tremor, and hypotonia syndrome, childhood-onset
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
atrichia with papular lesions
atrioventricular dissociation +
autoinflammation with arthritis and dyskeratosis
autoinflammation with pulmonary and cutaneous vasculitis
autoinflammation, immune dysregulation, and eosinophilia
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant wooly hair
autosomal genetic disease +
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
Axenfeld-Rieger syndrome +
azoospermia, obstructive, with nephrolithiasis
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Bamforth-Lazarus syndrome
beta-aminoisobutyric acid, urinary excretion of
bilateral microtia-deafness-cleft palate syndrome
bile acid conjugation defect 1
bile acid malabsorption, primary, 1
biliary, renal, neurologic, and skeletal syndrome
Birbeck granule deficiency
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis-impaired intellectual development syndrome
blistering, acantholytic, of oral and laryngeal mucosa
bone marrow failure syndrome +
brachycephaly, trichomegaly, and developmental delay
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Braddock-Carey syndrome +
branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
Bryant-Li-Bhoj neurodevelopmental syndrome +
bullous dystrophy, macular type
camptodactyly syndrome, Guadalajara +
Camptosynpolydactyly, complex
capillary infantile hemangioma
capillary malformation-arteriovenous malformation syndrome +
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
cardiac valvular defect +
cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
cardioacrofacial dysplasia +
cardiofacioneurodevelopmental syndrome
Carey-Fineman-Ziter syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +
cavernous hemangiomas of face-supraumbilical midline raphe syndrome
central areolar choroidal dystrophy +
central centrifugal cicatricial alopecia
central hypoventilation syndrome, congenital +
Central precocious puberty +
cerebellar ataxia, brain abnormalities, and cardiac conduction defects
cerebellar atrophy, developmental delay, and seizures
cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
cerebellar, ocular, craniofacial, and genital syndrome
cerebelloparenchymal disorder +
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
chitotriosidase deficiency
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
cholestasis-pigmentary retinopathy-cleft palate syndrome
chorea, childhood-onset, with psychomotor retardation
chromosome 15q24 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 1p32-p31 deletion syndrome
chromosome-defective micronuclei
chronic atrial and intestinal dysrhythmia
Chudley-McCullough syndrome
cleft palate, proliferative retinopathy, and developmental delay
cleft palate-large ears-small head syndrome
coagulation protein disease +
cognitive impairment with or without cerebellar ataxia
COL4A1-related disorder +
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
combined low LDL and fibrinogen
combined oxidative phosphorylation deficiency 49
combined oxidative phosphorylation deficiency 50
cone-rod dystrophy and hearing loss
cone-rod synaptic disorder syndrome, congenital nonprogressive
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital bilateral absence of vas deferens +
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
congenital contractures of the limbs and face, hypotonia, and developmental delay
Congenital deficiency in alpha-fetoprotein
congenital enteropathy due to enteropeptidase deficiency
congenital heart defects and ectodermal dysplasia
congenital heart defects and skeletal malformations syndrome
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, multiple types, 7
congenital heart malformation +
congenital hereditary endothelial dystrophy of cornea
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
congenital pseudoarthrosis of clavicle
congenital pseudoarthrosis of the limbs +
congenital short bowel syndrome, autosomal recessive
congenital stromal corneal dystrophy
congenital vertical talus +
contractures, pterygia, and variable skeletal fusions syndrome +
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome
corpus callosum agenesis-abnormal genitalia syndrome
cortical dysplasia-focal epilepsy syndrome
corticosteroid-binding globulin deficiency
corticosterone methyloxidase type 2 deficiency
craniofacial anomalies and anterior segment dysgenesis syndrome
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofacial dysplasia - osteopenia syndrome
craniofacial-deafness-hand syndrome
craniolenticulosutural dysplasia
craniometadiaphyseal osteosclerosis with hip dysplasia
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy +
cyanosis, transient neonatal +
cystic fibrosis-gastritis-megaloblastic anemia syndrome
de Sanctis-Cacchione syndrome
deafness with labyrinthine aplasia, microtia, and microdontia
deafness, congenital heart defects, and posterior embryotoxon
deafness, congenital, and adult-onset progressive leukoencephalopathy
deafness-ear malformation-facial palsy syndrome
deafness-epiphyseal dysplasia-short stature syndrome
deafness-small bowel diverticulosis-neuropathy syndrome
deafness-vitiligo-achalasia syndrome
delayed puberty, self-limited
dentin dysplasia type I +
dentin dysplasia-sclerotic bones syndrome
dentinogenesis imperfecta type 2 +
dentinogenesis imperfecta type 3
DeSanto-Shinawi syndrome due to WAC point mutation
developmental delay with dysmorphic facies and dental anomalies
developmental delay with hypotonia, myopathy, and brain abnormalities
developmental delay with or without dysmorphic facies and autism
developmental delay with or without intellectual impairment or behavioral abnormalities
developmental delay with short stature, dysmorphic facial features, and sparse hair +
developmental delay with variable intellectual disability and dysmorphic facies
developmental delay with variable intellectual impairment and behavioral abnormalities
Developmental delay with variable intellectual impairment and behavioural abnormalities
developmental delay, hypotonia, and impaired language
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
developmental delay, language impairment, and ocular abnormalities
developmental dysplasia of the hip
diabetes, deafness, developmental delay, and short stature syndrome
diaphragmatic eventration
DICER1-related tumor predisposition
diencephalic-mesencephalic junction dysplasia
diffuse idiopathic skeletal hyperostosis
disabling pansclerotic morphea of childhood
Disorder of amino acid and other organic acid metabolism +
Disorder of biogenic amine metabolism and transport +
Disorder of carbohydrate metabolism +
Disorder of energy metabolism +
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +
Disorder of lipid metabolism +
Disorder of porphyrin and haem metabolism +
Disorder of purine or pyrimidine metabolism +
Disorder of vitamin and non-protein cofactor absorption and transport +
dwarfism, intellectual disability, and eye abnormality
dyskinesia with orofacial involvement +
dysmorphism-cleft palate-loose skin syndrome
dysraphism-cleft lip/palate-limb reduction defects syndrome
early repolarization associated with ventricular fibrillation
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
ectopia lentis 1, isolated, autosomal dominant
ectrodactyly and ectodermal dysplasia without cleft lip/palate
embryonal rhabdomyosarcoma +
endocrine-cerebro-osteodysplasia syndrome
endove syndrome, limb-brain type
EPHB4-associated vascular malformation spectrum +
epilepsy, hearing loss, and intellectual disability syndrome
epithelial recurrent erosion dystrophy
epithelial-stromal TGFBI dystrophy +
essential hypertension, genetic
exercise intolerance, riboflavin-responsive
exostoses-anetodermia-brachydactyly type E syndrome
extraoral halitosis due to methanethiol oxidase deficiency
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
familial abdominal aortic aneurysm +
familial caudal dysgenesis +
familial cavitary optic disk anomaly
familial cervical artery dissection
familial clubfoot with or without associated lower limb anomalies +
familial colorectal cancer +
familial gestational hyperthyroidism
familial glucocorticoid deficiency
familial hemolytic anemia +
familial hyperaldosteronism +
familial hyperthyroidism due to mutations in TSH receptor
familial male-limited precocious puberty
familial monosomy 7 syndrome +
familial nonmedullary thyroid carcinoma +
familial osteosclerosis +
familial ovarian cancer +
familial pancreatic carcinoma
familial parathyroid adenoma
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
familial prostate carcinoma +
familial spontaneous pneumothorax
familial thoracic aortic aneurysm and aortic dissection +
familial thrombocytosis +
familial vesicoureteral reflux +
febrile seizures, familial +
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
fibrodysplasia ossificans progressiva
fibromuscular dysplasia, multifocal
fibrosclerosis, multifocal
fibrosis, neurodegeneration, and cerebral angiomatosis
focal epithelial hyperplasia
focal segmental glomerulosclerosis and neurodevelopmental syndrome
Fuchs' endothelial dystrophy +
fucosyltransferase 6 deficiency
fused mandibular incisors
Gamstorp-Wohlfart syndrome
gastric mucosal hypertrophy
gastroesophageal reflux disease +
gastrointestinal stromal tumor
GATA1-Related X-Linked Cytopenia +
gelatinous drop-like corneal dystrophy
Genetic hyperferritinemia without iron overload
genitourinary and/or brain malformation syndrome
glaucoma, primary closed-angle
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
global developmental delay with or without impaired intellectual development
global developmental delay with speech and behavioral abnormalities
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
glucocorticoid therapy, response to
Goldberg-Shprintzen syndrome
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
granulocytopenia with immunoglobulin abnormality
growth delay due to insulin-like growth factor I resistance
growth delay due to insulin-like growth factor type 1 deficiency
growth hormone insensitivity syndrome with immune dysregulation +
growth hormone-secreting pituitary adenoma
growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
growth retardation-mild developmental delay-chronic hepatitis syndrome
hearing loss, noise-induced, susceptibility to
heart defect - tongue hamartoma - polysyndactyly syndrome
hemolytic-uremic syndrome +
hemorrhagic disease of newborn
Hengel-Maroofian-Schols syndrome
hepatorenocardiac degenerative fibrosis
hereditary arterial and articular multiple calcification syndrome
hereditary breast carcinoma
hereditary chronic pancreatitis
hereditary disorder of connective tissue +
hereditary fallopian tube carcinoma
hereditary gallbladder disorder +
hereditary gastric cancer +
hereditary gingival fibromatosis
hereditary hyperferritinemia with congenital cataracts
hereditary hyperparathyroidism +
hereditary hypoparathyroidism +
hereditary hypophosphatemic rickets +
hereditary neoplastic syndrome +
hereditary neuroendocrine tumor of small intestine
hereditary neurological disease +
hereditary otorhinolaryngologic disease +
Hereditary persistence of alpha-fetoprotein
hereditary pulmonary alveolar proteinosis +
hereditary sensory and autonomic neuropathy with deafness and global delay
hereditary skeletal muscle disorder +
hereditary skin disorder +
heritable pulmonary arterial hypertension +
Heyn-Sproul-Jackson syndrome
high myopia-sensorineural deafness syndrome
horizontal gaze palsy with progressive scoliosis
Houge-Janssens syndrome +
humero-radio-ulnar synostosis +
humerofemoral hypoplasia with radiotibial ray deficiency
humeroradial synostosis +
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
hyperostosis cranialis interna
hyperpigmentation of eyelid
hypersensitivity pneumonitis, familial
hypertelorism and tetralogy of fallot
hypertelorism-preauricular sinus-punctual pits-deafness syndrome
hypertrichotic osteochondrodysplasia Cantu type
hypoalphalipoproteinemia, primary, 2 +
hypogonadotropic hypogonadism +
hypoinsulinemic hypoglycemia and body hemihypertrophy
hypokalemic tubulopathy and deafness
hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
hypoparathyroidism-deafness-renal disease syndrome
hypopigmentation, organomegaly, and delayed myelination and development
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
hypothyroidism, congenital, nongoitrous +
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
ichthyosis prematurity syndrome
ichthyosis-cheek-eyebrow syndrome
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Imagawa-Matsumoto syndrome
immune deficiency disease +
immune dysregulation, autoimmunity, and autoinflammation
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency disease +
immunodeficiency, developmental delay, and hypohomocysteinemia
imperforate oropharynx-costo vetebral anomalies syndrome
inborn errors of metabolism +
indifference to pain, congenital, autosomal dominant
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
infantile liver failure +
inflammatory bowel disease +
inherited aplastic anemia +
inherited auditory system disease +
inherited bleeding disorder, platelet-type +
inherited blood coagulation disorder + Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Inherited cancer-predisposing syndrome +
inherited deficiency anemia +
inherited hemoglobinopathy +
inherited hypertrophic pyloric stenosis +
inherited isolated nail anomaly +
inherited kidney disorder +
inherited oocyte maturation defect +
inherited primary ovarian failure +
inherited pseudoxanthoma elasticum +
inherited sideroblastic anemia +
inherited thrombocytopenia +
inosine triphosphatase deficiency
insulin-resistance syndrome type A
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with autism and dysmorphic facies
intellectual developmental disorder with autistic features and language delay, with or without seizures
intellectual developmental disorder with dysmorphic facies and ptosis
intellectual developmental disorder with hypertelorism and distinctive facies
intellectual developmental disorder with hypotonia and behavioral abnormalities
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
intellectual developmental disorder with macrocephaly, seizures, and speech delay
intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
intellectual developmental disorder with or without epilepsy or cerebellar ataxia
intellectual developmental disorder with or without peripheral neuropathy
intellectual developmental disorder with paroxysmal dyskinesia or seizures
intellectual developmental disorder with poor growth and with or without seizures or ataxia
intellectual developmental disorder with seizures and language delay
intellectual developmental disorder with speech delay and axonal peripheral neuropathy
intellectual disability, FRA12A type
intellectual disability, short stature, facial anomalies, and joint dislocations
intellectual disability-brachydactyly-Pierre Robin syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-strabismus syndrome
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ischio-vertebral syndrome
islet cell adenomatosis +
isolated congenital breast hypoplasia/aplasia +
isolated microphthalmia +
isolated thyrotropin-releasing hormone deficiency
joint contractures, osteochondromas, and B-cell lymphoma
juvenile arthritis due to defect in LACC1
kallikrein, decreased urinary activity of
Karsch-Neugebauer syndrome
Kaya-Barakat-Masson syndrome
keratitis fugax hereditaria
keratoderma hereditarium mutilans
Khan-Khan-Katsanis syndrome
Kohlschutter-Tonz syndrome-like
Koolen-de Vries syndrome +
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
left-right axis malformations
Lessel-Kreienkamp syndrome
lethal congenital contracture syndrome +
lethal faciocardiomelic dysplasia
lethal polymalformative syndrome, Boissel type
lethal recessive chondrodysplasia
Leukocyte-Adhesion Deficiency Syndrome
leukodystrophy and acquired microcephaly with or without dystonia;
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
leukoencephalopathy, hereditary diffuse, with spheroids +
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
leukoencephalopathy, progressive, infantile-onset, with or without deafness
Leydig cell hypoplasia, type 1 +
Li-Ghorbani-Weisz-Hubshman syndrome
limb transversal defect-cardiac anomaly syndrome
Long-Olsen-Distelmaier syndrome
LTBP2-related ocular dysgenesis +
lumbar disc degeneration +
lung disease, immunodeficiency, and chromosome breakage syndrome;
Luo-Schoch-Yamamoto syndrome
lymphedema-posterior choanal atresia syndrome
macrocephaly, dysmorphic facies, and psychomotor retardation
macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
macrocephaly-developmental delay syndrome
Malan overgrowth syndrome
maleylacetoacetate isomerase deficiency
mammary-digital-nail syndrome
mandibular hypoplasia-deafness-progeroid syndrome
mandibuloacral dysplasia progeroid syndrome
mandibulofacial dysostosis with mental deficiency
mbd5 associated neurodevelopmental disorder
McKusick-Kaufman syndrome
Meesmann corneal dystrophy +
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megaloblastic anemia, folate-responsive
Mendelian encephalopathy +
menstrual cycle-dependent periodic fever
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
methylmalonic aciduria and homocystinuria type cblE
methylmalonic aciduria and homocystinuria type cblG
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
microcephaly, developmental delay, and brittle hair syndrome
microcephaly, epilepsy, and diabetes syndrome +
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly, growth restriction and increased sister chromatid exchange +
microcephaly, short stature, and limb abnormalities
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-capillary malformation syndrome
microcephaly-micromelia syndrome
microcephaly-thin corpus callosum-intellectual disability syndrome
microspherophakia-metaphyseal dysplasia syndrome
mitochondrial complex 1 deficiency, nuclear type 35
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
mucocutaneous lymph node syndrome
Mullegama-Klein-Martinez syndrome
mullerian aplasia and hyperandrogenism
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
multiple fibroadenoma of the breast
multiple synostoses syndrome +
multisystemic smooth muscle dysfunction syndrome
muscular dystrophy, adult-onset, with leukoencephalopathy
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
muscular dystrophy, congenital, with or without seizures
myeloperoxidase deficiency
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
myopathy, congenital, with excess of muscle spindles
myopia 26, X-linked, female-limited
myopia 28, autosomal recessive
myostatin-related muscle hypertrophy
N-acetylaspartate deficiency
nephropathy - deafness - hyperparathyroidism syndrome
nephropathy, chronic tubulointerstitial
neurocardiofaciodigital syndrome
neurodegeneration and seizures due to copper transport defect
neurodegeneration with ataxia and late-onset optic atrophy
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
neurodegeneration, infantile-onset, biotin-responsive
neurodevelopmental, jaw, eye, and digital syndrome
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
neuroectodermal melanolysosomal disease
neurofacioskeletal syndrome with or without renal agenesis
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset +
neuromuscular disease and ocular or auditory anomalies with or without seizures
nonimmune chronic idiopathic neutropenia of adults
O'Donnell-Luria-Rodan syndrome
Obesity Hypoventilation Syndrome
obesity, hyperphagia, and developmental delay
oculoauriculovertebral spectrum with radial defects +
oculocerebrofacial syndrome, Kaufman type
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis +
oculomotor-abducens synkinesis
oculopharyngeal myopathy with leukoencephalopathy 1
oligodontia-cancer predisposition syndrome
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
ophthalmomandibulomelic dysplasia
ophthalmoplegia, external, with rib and vertebral anomalies
orofaciodigital syndrome +
oromandibular-limb hypogenesis syndrome +
osteochondrodysplasia, brachydactyly, and overlapping malformed digits
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteogenesis imperfecta +
osteonecrosis of genetic origin +
osteootohepatoenteric syndrome
osteoporosis, childhood- or juvenile-onset, with developmental delay
osteoporosis-oculocutaneous hypopigmentation syndrome
Other metabolic disease +
ovarian hyperstimulation syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
pancreatic beta cell agenesis with neonatal diabetes mellitus
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parathyroid Gland Carcinoma
patella aplasia/hypoplasia +
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
periodic fever, immunodeficiency, and thrombocytopenia syndrome
peripheral arterial occlusive disease 1
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Peroxisomal beta-oxidation disorder +
peroxisome biogenesis disorder, complementation group 7
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
phosphoribosylaminoimidazole carboxylase deficiency
Pierre Robin syndrome-faciodigital anomaly syndrome
pigment dispersion syndrome
pigmented purpuric eruption
Pitt-Hopkins-like syndrome 2
plasma fibronectin deficiency
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
PMP22-RAI1 contiguous gene duplication syndrome
polycystic ovary syndrome
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
porencephaly-microcephaly-bilateral congenital cataract syndrome
postaxial tetramelic oligodactyly
posterior polymorphous corneal dystrophy
prekallikrein deficiency +
premature chromatid separation trait
preterm premature rupture of the membranes
primary failure of tooth eruption
primary hypertrophic osteoarthropathy +
primary immunodeficiency syndrome due to p14 deficiency
primary intraosseous venous malformation
primary pigmented nodular adrenocortical disease +
progressive deafness with stapes fixation
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive non-infectious anterior vertebral fusion
proteinuria, chronic benign
Pseudofolliculitis barbae
pseudohyperaldosteronism type 2
ptosis, hereditary congenital, 1
pulmonary alveolar microlithiasis
pulmonary alveolar proteinosis with hypogammaglobulinemia
pulmonary atresia with ventricular septal defect
pulmonary fibrosis and/or bone marrow failure, telomere-related +
pulmonary venoocclusive disease +
pyropoikilocytosis, hereditary
Rabson-Mendenhall syndrome
radial deficiency-tibial hypoplasia syndrome
Rajab interstitial lung disease with brain calcifications +
Rare genetic bone disease +
Rare genetic cardiac disease +
Rare genetic developmental defect during embryogenesis +
Rare genetic disease with myoclonus as a major feature +
Rare genetic endocrine disease +
Rare genetic eye disease +
Rare genetic female infertility +
Rare genetic gastroenterological disease +
Rare genetic hematologic disease +
Rare genetic hepatic disease +
Rare genetic immune disease +
Rare genetic male infertility +
Rare genetic neurological disorder +
Rare genetic odontologic disease +
Rare genetic renal disease +
Rare genetic respiratory disease +
Rare genetic skin disease +
Rare genetic systemic or rheumatologic disease +
Rare genetic urogenital disease +
Rare genetic vascular disease +
renal-hepatic-pancreatic dysplasia +
respiratory infections, recurrent, and failure to thrive with or without diarrhea
respiratory papillomatosis, juvenile recurrent, congenital
retinal dystrophy and microvillus inclusion disease
retinal dystrophy with or without macular staphyloma
retinitis pigmentosa and erythrocytic microcytosis
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
rhizomelic limb shortening with dysmorphic features
RNU4ATAC spectrum disorder +
Robin sequence-oligodactyly syndrome
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
sandestig-stefanova syndrome
Schnyder corneal dystrophy
scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
seizures, early-onset, with neurodegeneration and brain calcifications
severe congenital neutropenia +
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 intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
short stature due to primary acid-labile subunit deficiency
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
short stature, Brussels type
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +
short stature, oligodontia, dysmorphic facies, and motor delay
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
shoulder and thorax deformity-congenital heart disease syndrome
Sifrim-Hitz-Weiss syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome type 2
skeletal defects, genital hypoplasia, and intellectual disability
skeletal dysplasia and progressive central nervous system degeneration, lethal
skeletal dysplasia, mild, with joint laxity and advanced bone age
spastic paraparesis-deafness syndrome
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
specific granule deficiency
spinal muscular atrophy, infantile, James type
splenogonadal fusion-limb defects-micrognathia syndrome
split hand-foot malformation +
split-foot malformation-mesoaxial polydactyly syndrome
spondylocostal dysostosis +
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
spondyloepimetaphyseal dysplasia, Isidor-Toutain type
spondylometaphyseal dysplasia with corneal dystrophy
squalene synthase deficiency
structural brain anomalies with impaired intellectual development and craniosynostosis
Stuve-Wiedemann syndrome +
sudden infant death-dysgenesis of the testes syndrome
Suleiman-El-Hattab syndrome
symphalangism with multiple anomalies of hands and feet
syndromic microphthalmia +
syndromic multisystem autoimmune disease due to ITCH deficiency
syngnathia multiple anomalies
syngnathia-cleft palate syndrome
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
tall stature-intellectual disability-renal anomalies syndrome
taurodontism, microdontia, and dens invaginatus
Teebi hypertelorism syndrome +
Tessadori-Van-Haaften neurodevelopmental syndrome +
tethered spinal cord syndrome
tetraamelia-multiple malformations syndrome
thickened earlobes-conductive deafness syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
thrombocytopenia, anemia, and myelofibrosis
thrombocytopenia-Robin sequence syndrome
thrombotic microangiopathy +
thyroid hormone metabolism, abnormal +
tibial aplasia-ectrodactyly syndrome +
Tolchin-Le Caignec syndrome
tp63-related spectrum disorders
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
transient infantile hypertriglyceridemia and hepatosteatosis
trichohepatoneurodevelopmental syndrome
triokinase and FMN cyclase deficiency syndrome
ulna hypoplasia-intellectual disability syndrome
ulnar hypoplasia-split foot syndrome
urinary bladder, atony of
Usmani-Riazuddin syndrome, autosomal dominant
Usmani-Riazuddin syndrome, autosomal recessive
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL with hydrocephalus +
varicella, severe recurrent
ventriculomegaly and arthrogryposis
ventriculomegaly-cystic kidney disease
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral hypersegmentation and orofacial anomalies
vertebral, cardiac, tracheoesophageal, renal, and limb defects
visceral neuropathy, familial +
visual impairment and progressive phthisis bulbi
vitreoretinopathy with phalangeal epiphyseal dysplasia
Wiedemann-Steiner syndrome
woolly hair-skin fragility syndrome
wooly hair, autosomal recessive 3
wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
X inactivation, familial skewed +
X-linked complicated corpus callosum dysgenesis
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
xerosis and growth failure with immune and pulmonary dysfunction syndrome
Zimmermann-Laband syndrome +
zinc deficiency, transient neonatal
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