Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Meckel Syndrome, Type 8 |
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Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Polycystic kidney dysplasia, Microphtha... |
OMIM:613885 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Trisomy 13 |
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Anophthalmia, Median cleft lip, Displacement of the urethral meatus, Abnormality of the dentition... |
ORPHA:3378 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
ORPHA:100973 |
Hyperlysinemia, Type I |
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Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia |
OMIM:238700 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
OMIM:309548 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Microphthalmia, Syndromic 12 |
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Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:615524 |
Variant Abeta2M Amyloidosis |
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Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Renal amyloidosis, Abn... |
ORPHA:314652 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Anencephaly 2 |
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Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge |
OMIM:619452 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:90301 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5t... |
OMIM:206920 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Malabsorpt... |
ORPHA:85445 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... |
ORPHA:411986 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... |
OMIM:608836 |
Cerebrooculonasal Syndrome |
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Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, Widely spaced teeth, High palate, ... |
ORPHA:66625 |
Cheilitis Glandularis |
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Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Insulin-Resistance Syndrome Type B |
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Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Hepatorenocardiac Degenerative Fibrosis |
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Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Hartnup Disorder |
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Hyperactivity, Glossitis, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria |
OMIM:234500 |
Van Der Woude Syndrome |
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Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Microgastria-Limb Reduction Defect Syndrome |
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Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Hepatomegaly, Multicystic kid... |
ORPHA:2538 |
Hyperprolinemia, Type I |
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Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
Trisomy 1Q |
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Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm... |
ORPHA:261344 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Kimura Disease |
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Abnormal salivary gland morphology |
ORPHA:482 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
Fibular Hemimelia |
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Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Brooke-Spiegler Syndrome |
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Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... |
ORPHA:1104 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Matthew-Wood Syndrome |
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Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancr... |
ORPHA:2470 |
Hydrolethalus |
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Anophthalmia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival c... |
ORPHA:2189 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Nephrotic syndrome, Flar... |
OMIM:617303 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Narrow pelvi... |
OMIM:608022 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Chromosome 3Q29 Deletion Syndrome |
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Thin upper lip vermilion, Hyperactivity, Tapered finger, Aggressive behavior, Long fingers, Short... |
OMIM:609425 |
Gand Syndrome |
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Long toe, Thin upper lip vermilion, Hyperactivity, Long fingers, Wide mouth, Short philtrum, Tics... |
OMIM:615074 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Hepatomegaly, Hyperactivity, Short attention span, Dental crowding, Persistence of primary teeth,... |
OMIM:618342 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
Al Amyloidosis |
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Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Esophageal atre... |
ORPHA:77298 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Helsmoortel-Van Der Aa Syndrome |
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Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... |
OMIM:615873 |
Microphthalmia With Brain And Digit Anomalies |
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Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... |
ORPHA:139471 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyperlipidemia, Nephr... |
OMIM:232220 |
Walker-Warburg Syndrome |
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Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abn... |
ORPHA:899 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Hypospadias, Postaxial polydactyly... |
OMIM:612651 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Thick vermilion border, Compulsive behaviors, Attention deficit hyperactivity diso... |
OMIM:619927 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Sandal gap, Macrodontia, Hyperactivity, Cryptorc... |
ORPHA:228402 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Th... |
OMIM:618188 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Narrow palate, Diminished ability to concentrate,... |
OMIM:615516 |
Mucolipidosis Ii Alpha/Beta |
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Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Progressive alveolar rid... |
OMIM:252500 |
Phenylketonuria |
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Maternal hyperphenylalaninemia, Hyperactivity, Increased level of hippuric acid in urine, Elevate... |
OMIM:261600 |
Clark-Baraitser Syndrome |
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Thin upper lip vermilion, Hyperactivity, Sandal gap, Exaggerated cupid's bow, Aggressive behavior... |
OMIM:617752 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intest... |
ORPHA:79259 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Short attention span, Aggressive behavior,... |
OMIM:300558 |
Microphthalmia With Limb Anomalies |
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Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Widely spaced prim... |
ORPHA:90322 |
H Syndrome |
|
Hallux valgus, Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Cleft upper li... |
ORPHA:168569 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... |
OMIM:276700 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small h... |
OMIM:618089 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo... |
ORPHA:2363 |
Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hypertriglyceridemia, Hyperactivity, Abnormality of the dentition, V... |
OMIM:182290 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Cleft upper lip, Downturned corners of mouth, Short philtrum, Bruxism, Recurrent h... |
OMIM:613192 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Xerostomia, Enlarged lacrimal glands, Abnormal pa... |
ORPHA:449432 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Deep philtrum, Hyponatremia, Bilateral cleft lip, Cryptorchidi... |
ORPHA:2162 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primary teeth, ... |
ORPHA:90321 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Anterior pituitary hypoplas... |
ORPHA:264200 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata... |
OMIM:305600 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Insulin resistance, Hypercalciuria, ... |
ORPHA:508 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl... |
OMIM:206900 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... |
OMIM:620141 |
Alg9-Cdg |
|
Smooth philtrum, Hepatomegaly, Hypoplasia of the bladder, Thin upper lip vermilion, Villous atrop... |
ORPHA:79328 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polydactyly, Narrow p... |
OMIM:605627 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Pancreatic cysts,... |
OMIM:208540 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Femoral bowing |
OMIM:615415 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Thin upper lip vermilion, Hyperactivity, Hypospadias, Optic nerve hypoplasia, Long fing... |
ORPHA:363686 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Esophageal atresia, Hypop... |
ORPHA:3412 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Cardiomegaly, Deep philtrum, Short philtrum, High ... |
OMIM:300855 |
Cri-Du-Chat Syndrome |
|
Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short philtrum, Abno... |
OMIM:123450 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Polydipsia, Biliary hyperp... |
ORPHA:731 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submuc... |
ORPHA:2250 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Meckel Syndrome |
|
Ureteral duplication, Bowing of the long bones, Anophthalmia, Multicystic kidney dysplasia, Aplas... |
ORPHA:564 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Hors... |
OMIM:601186 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Exaggerated median tongue fur... |
OMIM:312870 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Hypospadias, Diabetes mellitus, Cryptorchidism, Short metatarsal... |
OMIM:614613 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,... |
ORPHA:485405 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Hyperactivity, Sandal gap, Abnormal finger flexion crease, Hyp... |
OMIM:210600 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hypoplasia of t... |
OMIM:200995 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... |
ORPHA:500095 |
Charge Syndrome |
|
Anophthalmia, Abnormal tibia morphology, Compulsive behaviors, Vesicoureteral reflux, Clinodactyl... |
ORPHA:138 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Hypocalcemia, Dysphag... |
ORPHA:64744 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Progressive neurologic deterioration, Cardiomegaly, ... |
OMIM:252920 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis... |
OMIM:301013 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephro... |
OMIM:130650 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Vesicoureteral reflux, Nephropathy, He... |
ORPHA:116 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Short attention span, Aggressive behavior, 2-3 toe cutan... |
OMIM:620242 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Nephroblastoma, Ovarian ser... |
ORPHA:276280 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate... |
OMIM:309800 |
Fraser Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Anophthalmia, Toe syndactyly, Multicystic kidney dysplasi... |
ORPHA:2052 |
Joubert Syndrome 21 |
|
Anophthalmia, Splenomegaly, Renal cyst, Short ribs, Dysphagia, Hyperechogenic kidneys |
OMIM:615636 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Han... |
OMIM:214800 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia, Hypospadias, ... |
OMIM:219000 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, High, narrow palate, Cryptorchidism, Ulnar deviation of fi... |
ORPHA:1101 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Clubbing, Enlarged kidney |
ORPHA:79128 |
Muir-Torre Syndrome |
|
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer |
ORPHA:587 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... |
OMIM:619148 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal... |
OMIM:300166 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Recurrent hand flapping,... |
OMIM:617600 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Ev... |
OMIM:252930 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... |
OMIM:186500 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Tubulointerstitial nephritis,... |
ORPHA:79078 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... |
ORPHA:239 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal p... |
OMIM:154500 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Thin upper lip vermilion, Hyperactivity, Sandal gap, Broad hallux, Dental crowding, Aggressive be... |
OMIM:616078 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Anorexia, Splenomegaly, Clubbing, Hypercalciuria, Enlarged lacrimal glands, Inflamm... |
OMIM:181000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Macroglossia, Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behav... |
ORPHA:449291 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Agenesis of canine, Orofacial cl... |
ORPHA:141099 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Cryptorchidism, Renal hypopla... |
OMIM:607932 |
Spastic Paraplegia 29, Autosomal Dominant |
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Hyperactivity, Urinary incontinence, Hiatus hernia, Urinary hesitancy, Urinary urgency, Neonatal ... |
OMIM:609727 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoa... |
OMIM:235510 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Posteriorly placed anus, ... |
OMIM:306955 |
Orofaciodigital Syndrome Iii |
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Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Melioidosis |
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Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
Distal Deletion 12Q |
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Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, ... |
ORPHA:96149 |
Benign Schwannoma |
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Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology, Abnormal ... |
ORPHA:252164 |
Igg4-Related Ophthalmic Disease |
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Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Orchitis, Abnor... |
ORPHA:449563 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Camptodactyly of finger, Splenomegaly, Xerostomia, Stage 5 chron... |
ORPHA:90340 |
Branchiooculofacial Syndrome |
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Anophthalmia, Hypospadias, Renal agenesis, Proximal placement of thumb, Cleft upper lip, Malrotat... |
OMIM:113620 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum |
ORPHA:2526 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Epispadi... |
ORPHA:2556 |
Meacham Syndrome |
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Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Mend Syndrome |
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Hyperactivity, Broad hallux, Overlapping toe, Asymmetry of the mouth, Aggressive behavior, Long f... |
ORPHA:401973 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Tented upper lip vermilion, Cleft upper lip, Long fingers, Cryptorchidism, Cleft p... |
OMIM:614294 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Cleft upper lip, Part... |
OMIM:164210 |
Cardiac-Urogenital Syndrome |
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Penoscrotal hypospadias, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, 2-3 t... |
OMIM:618280 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Ulbright-Hodes Syndrome |
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Maternal diabetes, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Cryptorc... |
ORPHA:3404 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
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Enlargement of parotid gland |
OMIM:600343 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Oral... |
ORPHA:50918 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vesicoureteral... |
OMIM:309580 |
Darier-White Disease |
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Enlargement of parotid gland |
OMIM:124200 |
Histidinemia |
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Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Sarcoidosis |
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Hepatomegaly, Renal insufficiency, Hypercalcemia, Enlarged lacrimal glands, Nephrolithiasis, Hype... |
ORPHA:797 |
Craniorachischisis |
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Bifid sternum, Anal atresia |
ORPHA:63260 |
Neurofibroma |
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Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |