Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Fetal Cytomegalovirus Syndrome |
|
Sensorineural hearing impairment, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... |
OMIM:274600 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Large for gestational age, Truncal obesity |
OMIM:240900 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Thyroid carcinoma, Goiter, Nephropathy, Enlarged vestibular aqu... |
ORPHA:705 |
Spermatogenic Failure, X-Linked, 1 |
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Obesity |
OMIM:305700 |
Benign Schwannoma |
|
Abnormality of the adrenal glands, Vestibular schwannoma, Abnormality of the twelfth cranial nerv... |
ORPHA:252164 |
Hernández-Aguirre Negrete Syndrome |
|
Wide mouth, Bulbous nose, EEG abnormality, Low-set, posteriorly rotated ears, Deep philtrum, Dela... |
ORPHA:2139 |
Brooke-Spiegler Syndrome |
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Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the sublingual glands,... |
ORPHA:79493 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Variant Abeta2M Amyloidosis |
|
Cardiac amyloidosis, Abnormality of the tongue, Chronic kidney disease, Hepatic amyloidosis, Abno... |
ORPHA:314652 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Sensorineural hearing impairment, Abnormal salivary gland morphology |
ORPHA:3225 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Ravine Syndrome |
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Failure to thrive, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Abnormal ... |
ORPHA:99852 |
Branchiootorenal Syndrome 1 |
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High palate, Cleft palate, Microdontia, Renal steatosis, Euthyroid goiter, Microtia, Unilateral r... |
OMIM:113650 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, R... |
OMIM:615993 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
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Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Go... |
OMIM:274300 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Thyrocerebrorenal Syndrome |
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Sensorineural hearing impairment, Nephritis, Euthyroid goiter, Abnormality of the musculature of ... |
ORPHA:3327 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, High palate, Ankle flexion... |
OMIM:617519 |
Macrosomia With Microphthalmia, Lethal |
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Large for gestational age |
OMIM:248110 |
Fetal Iodine Deficiency Disorder |
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Hearing impairment, Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Nephritis, Goiter, Thrombocytopenia, Skeletal muscle atrophy |
OMIM:274240 |
11P15.4 Microduplication Syndrome |
|
Long philtrum, Increased overbite, Macrotia, Anteverted nares, Obesity, Posteriorly rotated ears,... |
ORPHA:300305 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Abnormal pericard... |
ORPHA:442 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... |
ORPHA:95716 |
Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Obesity, Hearing impairment, ... |
OMIM:303110 |
Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism, Dextrocardia, Situs inversus totalis, Chronic rhinitis, Hearing impairment |
OMIM:617577 |
Al Amyloidosis |
|
Hepatomegaly, Autonomic erectile dysfunction, Renal interstitial amyloid deposits, Proteinuria, P... |
ORPHA:85443 |
Galactosemia Iii |
|
Sensorineural hearing impairment, Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, G... |
OMIM:230350 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Aa Amyloidosis |
|
Adrenal insufficiency, Malabsorption, Nephrotic syndrome, Hepatomegaly, Chronic kidney disease, A... |
ORPHA:85445 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Otitis media, T lymphocytopenia, Oral ulcer, Recurrent otitis media, ... |
OMIM:608971 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Upper limb muscle w... |
OMIM:601596 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Temple Syndrome |
|
High palate, Cleft palate, Small for gestational age, Maturity-onset diabetes of the young, Flexi... |
OMIM:616222 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Bulbous nose, Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotr... |
OMIM:608836 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Cleft palate, Small for gestational age, O... |
OMIM:300148 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Tall stature, Pulmonic stenosis, Optic nerve hypoplasia, Bro... |
ORPHA:137634 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... |
OMIM:125250 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Bulbous nose, Macroorchidism, Macrotia, Obesity, Bilateral sensorineural hearing impairment, Thic... |
OMIM:300238 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnorma... |
ORPHA:93476 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Hyposmia |
OMIM:615996 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Short philtrum, Wi... |
OMIM:201050 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... |
OMIM:617713 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Velopharyngeal insufficiency, EEG abnormality, Everted upper li... |
OMIM:182290 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Brain atrophy, Enlarged kidney, Optic atrophy, Thrombocytopenia, Proteinuria, Bone ... |
OMIM:617303 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age, Abnormal auditory evoked potentials, Total intestinal ag... |
OMIM:600501 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Macrotia |
OMIM:300803 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Clark-Baraitser Syndrome |
|
Large earlobe, High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short phil... |
OMIM:617752 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... |
ORPHA:791 |
Mehmo Syndrome |
|
Large earlobe, EEG abnormality, Hypoplasia of penis, Micropenis, Downturned corners of mouth, Dia... |
ORPHA:85282 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Obesity, Fatty replacement of skeletal muscle, Distal lo... |
ORPHA:171706 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ... |
OMIM:300209 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
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Hypoplasia of penis, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the testes, Obesity... |
ORPHA:3055 |
Laurence-Moon Syndrome |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Hypoplasia of penis, Low-set, poster... |
ORPHA:2377 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Anemia, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Hearing impairmen... |
ORPHA:858 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Abnormality of the ear, Recurrent otitis media, EEG abnormality, Flexion contr... |
ORPHA:391372 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Pancreatic fibrosis, Cystic renal dys... |
OMIM:200995 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Mental Retardation, X-Linked 91 |
|
Obesity, Short nose |
OMIM:300577 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy |
ORPHA:482 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, EEG abnormality, Atrial septal defect, Convex nasal ridge, Hypoplasia of the ear car... |
ORPHA:1035 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Pursed lips, Short nose, Long philtrum, Flexion contr... |
OMIM:193700 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
High palate, Low-set ears, Protruding ear, Bulbous nose, Broad nasal tip, Depressed nasal bridge,... |
ORPHA:480907 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal cortical adenoma, Pa... |
ORPHA:97290 |
Pallister-Hall Syndrome |
|
Cleft palate, Decreased circulating cortisol level, Depressed nasal bridge, Ventricular septal de... |
OMIM:146510 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Diaphanospondylodysostosis |
|
Depressed nasal ridge, Cleft palate, Abnormal liver lobulation, Depressed nasal bridge, Nephrogen... |
OMIM:608022 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Hepatomegaly, Abnormal helix... |
ORPHA:61 |
Brain-Lung-Thyroid Syndrome |
|
Sensorineural hearing impairment, Hypoparathyroidism, Failure to thrive, Abnormality of the thyro... |
ORPHA:209905 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:319487 |
Immunodeficiency 61 |
|
Malabsorption, Recurrent sinusitis, Colon cancer, Recurrent otitis media, Obesity |
OMIM:300310 |
H Syndrome |
|
Histiocytosis, Cleft upper lip, Malabsorption, Gingival overgrowth, Micropenis, Abnormality of th... |
ORPHA:168569 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Tooth agenesis, Cleft palate, Pierre-Robin sequence, Truncal obesit... |
OMIM:618363 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Posterior helix pit, Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Macroglossia... |
OMIM:130650 |
Neurooculocardiogenitourinary Syndrome |
|
Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Downturned cor... |
OMIM:618652 |
Short Stature-Obesity Syndrome |
|
Obesity, Narrow nose, Prominent nasal bridge |
OMIM:269870 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal antihelix morphology, Failure to thrive, Bulbous nose, Atrial septal defect, Cryptorchid... |
ORPHA:3047 |
Beckwith-Wiedemann Syndrome |
|
Posterior helix pit, Exocrine pancreatic insufficiency, Wide mouth, Hepatomegaly, Hepatoblastoma,... |
ORPHA:116 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Acromegaloid Facial Appearance Syndrome |
|
Large for gestational age, Bulbous nose, Thick nasal alae |
OMIM:102150 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
15Q24 Microdeletion Syndrome |
|
Abnormality of the dentition, Depressed nasal bridge, Abnormality of the outer ear, Microphallus,... |
ORPHA:94065 |
Trisomy 10P |
|
High palate, Flexion contracture of thumb, Abnormality of the ear, Depressed nasal bridge, EEG wi... |
ORPHA:171929 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Alg9-Cdg |
|
Wide mouth, Hepatomegaly, Depressed nasal bridge, Hypoplasia of the bladder, Enlarged kidney, Hep... |
ORPHA:79328 |
Cowden Syndrome 5 |
|
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Goiter, Hamartomatous... |
OMIM:615108 |
Chung-Jansen Syndrome |
|
High palate, Thin vermilion border, Short philtrum, Long philtrum, Short nose, Macrotia, Antevert... |
OMIM:617991 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Large fleshy ears, Abnormal pinna morphology, Cerebral cortical atrophy, Congenital hypothyroidis... |
ORPHA:352530 |
Joubert Syndrome 37 |
|
High palate, Low-set ears, Hepatomegaly, Micropenis, Wide nose, Decreased testicular size, Hydron... |
OMIM:619185 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... |
OMIM:203800 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cerebral atrophy, Cryptorchidism, Microtia, Thin vermilion border, Depressed nasal bridge, Microp... |
ORPHA:171839 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Endocrine-Cerebroosteodysplasia |
|
Cleft upper lip, Abnormal pinna morphology, Cryptorchidism, Cleft palate, Micropenis, Hypospadias... |
OMIM:612651 |
X-Linked Non-Syndromic Intellectual Disability |
|
Small for gestational age, Broad nasal tip, Depressed nasal bridge, Urinary incontinence, Long ph... |
ORPHA:777 |
Rafiq Syndrome |
|
Bulbous nose, Flexion contracture, Underdeveloped nasolabial fold, Short philtrum, Wide nasal bri... |
OMIM:614202 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Infantile Sialic Acid Storage Disease |
|
High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated... |
OMIM:269920 |
Mccune-Albright Syndrome |
|
Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... |
ORPHA:562 |
Cowden Syndrome 6 |
|
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Goiter, Hamartomatous... |
OMIM:615109 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, L... |
ORPHA:110 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Tall stature, Long philtrum, Wide nose, Posteriorly rotated ears, Open mouth, Overweight, Wide na... |
OMIM:615032 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, High pal... |
ORPHA:79330 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Mastocy... |
ORPHA:66661 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Depressed nasal ridge, Cholestasis, Enlarged kidney, Esophage... |
ORPHA:731 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion, Cardiomegaly, Macrotia |
OMIM:613576 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, EEG abnormality, Cerebral atrophy, Restrictive cardiomyopathy, Abnormality of the de... |
OMIM:615398 |
Trisomy 5P |
|
Obesity, Protruding ear, Renal hypoplasia/aplasia, Hypoplasia of penis |
ORPHA:1742 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged k... |
OMIM:306955 |
Transaldolase Deficiency |
|
Wide mouth, Hepatomegaly, Micronodular cirrhosis, Depressed nasal bridge, Short philtrum, Ventric... |
OMIM:606003 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Hepatosp... |
OMIM:613101 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft palate, Depressed nasal tip, Microdontia, Carious teeth, Anteriorly placed anus, Central di... |
OMIM:604292 |
Borjeson-Forssman-Lehmann Syndrome |
|
EEG abnormality, Micropenis, Delayed puberty, Macrotia, Obesity, Cryptorchidism |
OMIM:301900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Macroglossia, Depressed nasal bridge, Congenital hypothyr... |
ORPHA:226313 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Wide mouth, Narrow mouth, Cleft palate, Microtia, Atresia of the e... |
OMIM:154500 |
Aredyld Syndrome |
|
Narrow mouth, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cachexia, Abnormal nasal mor... |
ORPHA:1133 |
Down Syndrome |
|
Depressed nasal ridge, Abnormality of the dentition, Depressed nasal bridge, Microdontia, Short n... |
ORPHA:870 |
Microtriplication 11Q24.1 |
|
Cleft palate, Attached earlobe, Irregularly spaced teeth, Short philtrum, Wide nose, Obesity, Hea... |
ORPHA:289522 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Cryptorchidism, Macroglossia, Splenomegaly, Small for gestational age, Renal agenes... |
OMIM:618440 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan sulfate excreti... |
OMIM:252920 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
High, narrow palate, Depressed nasal bridge, Obesity, Low-set ears, Thin upper lip vermilion, Pos... |
ORPHA:444002 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary exc... |
OMIM:256550 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Macroglossia, Proportionate tall stature, Nephr... |
ORPHA:500095 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Wide mouth, Cerebral atrophy, Brain atrophy, Depressed nasal br... |
OMIM:619260 |
Permanent Congenital Hypothyroidism |
|
Macroglossia, Thyroid dysgenesis, Hypothyroidism, Goiter, Jaundice |
ORPHA:226292 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal pinna morphology, Abnormality of the dentition, Microdontia, Carious teeth, Microtia, Mi... |
ORPHA:2363 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormality of the extraocular muscles, Xerostomia, Myositis, Thrombocytopenia, Abnormal salivary... |
ORPHA:79078 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly, Macrotia |
OMIM:300886 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Narrow mouth, Lymphopenia, Hyperthyroidism, Ovarian cyst, Goiter, ... |
OMIM:158350 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Sensorineural hearing impairment, Abnormality of the endocrine system, Gingival overgrowth, Crypt... |
ORPHA:464288 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cerebral cortical atrophy, Oligosacchariduria, Thick vermilion border, Vertigo, Hearing impairmen... |
ORPHA:3137 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Polycystic ov... |
ORPHA:2298 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft palate, Broad nasal tip, Depressed nasal tip, Microdontia, Carious teeth, Central diabetes ... |
OMIM:129900 |
Muckle-Wells Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Camptodactyly of finger, Nephropathy, Optic atrop... |
ORPHA:575 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
X-Linked Intellectual Disability, Stevenson Type |
|
Abnormal pinna morphology, Tall stature, Microdontia, Broad columella, Tented upper lip vermilion... |
ORPHA:85325 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Widely spaced primary teeth, Hepatomegaly... |
ORPHA:90321 |
Joubert Syndrome 32 |
|
Large for gestational age, Depressed nasal bridge, Hypertrophic cardiomyopathy, Tall stature |
OMIM:617757 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Sensorineural hearing impairment, High palate, Cryptorchidism, Small for gestational age, Depress... |
OMIM:617796 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Low-set, posteriorly rotated ears, Downturned corners of mouth, Obesity, Abno... |
ORPHA:254525 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Bulbous nose, Aortic valve stenosis, Everted lower lip vermilion, Overfolded helix, Depressed nas... |
ORPHA:324410 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Scheie Syndrome |
|
Sensorineural hearing impairment, Wide mouth, Hepatomegaly, Splenomegaly, Everted lower lip vermi... |
ORPHA:93474 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Precocious puberty, Cleft palate, Small for gestational age, Maturity-... |
ORPHA:96184 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Posterior helix pit, Wide mouth, Hepatomegaly, Hepatoblastoma, Tall stature, Cleft palate, Depres... |
OMIM:312870 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Quadriceps muscle weakness, Limb muscle weakness, Hyperthyroidism, Hypothyroidis... |
ORPHA:254892 |
Helsmoortel-Van Der Aa Syndrome |
|
Wide mouth, Decreased response to growth hormone stimulation test, Everted lower lip vermilion, B... |
OMIM:615873 |
19P13.12 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Precocious puberty, Atrial septa... |
ORPHA:254346 |
6Q16 Microdeletion Syndrome |
|
Bulbous nose, Microtia, Depressed nasal bridge, Abnormal ear morphology, Anteverted nares, Obesit... |
ORPHA:171829 |
Leprechaunism |
|
Failure to thrive, Protruding ear, Hyperinsulinemia, Hepatomegaly, Decreased body weight, Increas... |
ORPHA:508 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Low-set ears, Wide mouth, Microtia, Everted upper lip vermilion, Widely spaced teeth, Wide nose, ... |
OMIM:619056 |
Perlman Syndrome |
|
Cryptorchidism, Long upper lip, Congenital diaphragmatic hernia, Nephrogenic rest, Depressed nasa... |
OMIM:267000 |
Fucosidosis |
|
Failure to thrive, Hepatomegaly, Abnormality of the dentition, Abnormality of the gallbladder, Hy... |
ORPHA:349 |
X-Linked Intellectual Disability, Shashi Type |
|
Bulbous nose, Everted lower lip vermilion, Macrotia, Obesity, Macroorchidism |
ORPHA:85286 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Decreased thyroid-stimulating hormone level, Graves disease, Increas... |
OMIM:275000 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Fetal Gaucher Disease |
|
High palate, Hepatomegaly, Flexion contracture, Splenomegaly, Depressed nasal bridge, Abnormality... |
ORPHA:85212 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Abnormal pinna morphology, Hepatomegaly, Short nose, Skeletal muscle atrophy, Jaundice, Abnormal ... |
OMIM:608779 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Brain atrophy, Macroscopic hematuria, Membranoproliferative glomerulon... |
ORPHA:251004 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Cryptorchidism, Congenital diaphragmatic hernia, Oligodontia, Chronic otitis m... |
ORPHA:412035 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Abnormality of the thyroid gland, Sialadenitis, Abnormality of the ... |
ORPHA:449432 |
Bardet-Biedl Syndrome 7 |
|
Obesity, Depressed nasal bridge |
OMIM:615984 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Increased body weight, Ascites,... |
ORPHA:890 |
Ogden Syndrome |
|
Hydrocele testis, High palate, Abnormality of the dentition, Short philtrum, Depressed nasal brid... |
OMIM:300855 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Failure to thrive, Wide mouth, Cerebral cortical atrophy, Hepatomegaly, Gingival... |
OMIM:252500 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Low-set, posteriorly rotated e... |
ORPHA:3191 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic anus, Narrow palate, Ova... |
ORPHA:87 |
Ascher Syndrome |
|
High palate, Abnormality of upper lip, Hypothyroidism, Wide nose, Goiter |
ORPHA:1253 |
Sotos Syndrome |
|
High palate, Tall stature, Otitis media, Muscular ventricular septal defect, Broad nasal tip, Dep... |
OMIM:117550 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Sensorineural hearing impairment, Hepatomegaly, Hiatus hernia, Splenomegaly, Depressed nasal brid... |
OMIM:610199 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Large for gestational age, Widely spaced teeth, Protruding ear |
OMIM:616116 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic ... |
ORPHA:3085 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Graves dis... |
ORPHA:525731 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Overfolded helix, Camptodactyly of finger, Abnormality of the ureter, Flexio... |
ORPHA:3409 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Cerebral cortical hemiatrophy, Short nose, Abnormal testis mo... |
ORPHA:96147 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Brain atrophy, Heparan sulfate excretion in urine, Enlarged kidney, Optic atrophy, Thrombocytopen... |
ORPHA:505248 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Microtia, Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous c... |
ORPHA:276280 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Large for gestational age, Bi... |
OMIM:601165 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis... |
ORPHA:83601 |
Idiopathic Intracranial Hypertension |
|
Focal sensory seizure with olfactory features, Pulsatile tinnitus, Papilledema, Vertigo, Obesity |
ORPHA:238624 |
Bangstad Syndrome |
|
Convex nasal ridge, Small for gestational age, Pancytopenia, Insulin-resistant diabetes mellitus,... |
OMIM:210740 |
Summitt Syndrome |
|
Tall stature, Depressed nasal ridge, Camptodactyly of finger, Wide nose, Obesity |
ORPHA:3210 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity, Bulbous nose, Short nose, Wide nasal bridge |
OMIM:611936 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... |
OMIM:602088 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Prominent nose, Anteverted ... |
ORPHA:2180 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Microtia, Depressed nasal bridge, Deep philtrum, Short nose, Wide nose... |
OMIM:613320 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Proteinuria, ... |
ORPHA:79259 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Abnormal renal physiology, Limb muscle weakness, Cardiomyopathy... |
OMIM:266500 |
Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, T... |
ORPHA:861 |
Chops Syndrome |
|
Anomalous pulmonary venous return, Cryptorchidism, High, narrow palate, Splenomegaly, Long philtr... |
OMIM:616368 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Abnormality of the ly... |
ORPHA:464329 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials |
OMIM:109120 |
Radio-Tartaglia Syndrome |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Ventricular septal... |
OMIM:619312 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Macroglossia, Splenomegaly, Recurrent upper respiratory tract infections, Chro... |
ORPHA:583 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Cryptorchi... |
OMIM:610253 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Thin vermilion border, Lower li... |
OMIM:619737 |
Ciliary Dyskinesia, Primary, 2 |
|
Otitis media, Situs inversus totalis, Dextrocardia, Hearing impairment, Absent inner and outer dy... |
OMIM:606763 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose, Obesity |
OMIM:605309 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Goi... |
ORPHA:142 |
Distal Tetrasomy 15Q |
|
Sensorineural hearing impairment, Hydrocele testis, High palate, Abnormal helix morphology, Atria... |
ORPHA:314588 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Thick upper lip vermilion, Narrow mouth, Overfolded helix, Depressed nasal bridge, Mixed hearing ... |
OMIM:608624 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Inflammation of the la... |
OMIM:181000 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Anosmia, Hyposmia |
OMIM:617885 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Broad nasal tip, Moderate hearing impairment, Recurrent otitis media, Upper limb muscle weakness,... |
ORPHA:370010 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Depressed nasal bridge, Large for ... |
OMIM:614080 |
Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Optic atrop... |
ORPHA:585 |
Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Weight loss... |
ORPHA:85447 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Hepatomegaly, Carious teeth, Optic atrophy, Proteinuria, Hypogonadism,... |
OMIM:216400 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Chronic rhinitis, Nasal polyposis |
OMIM:617092 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Abnormality of the ureter, Short nose, Tent... |
ORPHA:819 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Conductive hearing impairment, Anomalous pulmonary venous return, ... |
ORPHA:244 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Sensorineural hearing impairment, Cerebral atrophy, Downturned corners of mouth, Obesity, Puberty... |
ORPHA:464282 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Enlarge... |
OMIM:314390 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Macroglossia, Increased body mass index, Congenital hypo... |
OMIM:614450 |
Tyrosinemia, Type I |
|
Failure to thrive, Paralytic ileus, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute... |
OMIM:276700 |
Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Depressed nasal bridge, Ventricular septal defect, Optic ... |
OMIM:201000 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Dental crowding, Supernumerary nipple, Macroglossia, Microtia, Reduced alpha/beta sy... |
OMIM:141750 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Precocious puberty, Maturity-onset diabetes of the young, Short philtrum, Wide nose,... |
ORPHA:254531 |
Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Abnormality of... |
ORPHA:1435 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Cleft palate, Small for gestational age, Hypertrophic cardiomyopathy, Flexion ... |
OMIM:616897 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Cleft palate, Overfolded helix, Depressed nasal bridge, Short philtrum, Large for ges... |
OMIM:280000 |
Noonan Syndrome 4 |
|
Low-set ears, Wide mouth, Dental malocclusion, Atrial septal defect, Hypertrophic cardiomyopathy,... |
OMIM:610733 |
Distal Monosomy 10Q |
|
Facial diplegia, High palate, Cleft palate, Morphological abnormality of the vestibule of the inn... |
ORPHA:96148 |
8P23.1 Microdeletion Syndrome |
|
High palate, Low-set ears, Abnormal cardiac septum morphology, Cryptorchidism, Hypoplastic left h... |
ORPHA:251071 |
Noonan Syndrome 8 |
|
Failure to thrive, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Left ventricular hype... |
OMIM:615355 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
OMIM:105210 |
Wagr Syndrome |
|
Everted lower lip vermilion, Hearing abnormality, Displacement of the urethral meatus, Obesity, C... |
ORPHA:893 |
Chromosome 2Q37 Deletion Syndrome |
|
Sensorineural hearing impairment, Depressed nasal bridge, Broad nasal tip, Wide nose, Subvalvular... |
OMIM:600430 |
Septo-Optic Dysplasia Spectrum |
|
Sensorineural hearing impairment, Hypoplasia of penis, Cleft palate, Optic nerve hypoplasia, Abno... |
ORPHA:3157 |
Kleefstra Syndrome Due To A Point Mutation |
|
Uplifted earlobe, Failure to thrive, Precocious puberty, Anal atresia, Abnormality of the dentiti... |
ORPHA:261652 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Otitis media, Urachus fistula, Cor triatriatum, Splenome... |
OMIM:612541 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... |
ORPHA:261494 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
High palate, Hepatomegaly, Triangular mouth, Overfolded helix, Depressed nasal bridge, Microdonti... |
OMIM:300868 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy |
ORPHA:459033 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Hepatomegaly, Carious teeth, Optic atrophy, Proteinuria, Hypoplasia of... |
OMIM:133540 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Chronic rhinitis, Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Nasal poly... |
OMIM:242680 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Hearing impairment, Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity |
OMIM:615985 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst, Multinodular goiter |
OMIM:138790 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney, Short philtrum, Congenital hypothyroidism, Wide nasal... |
ORPHA:521445 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodular goiter,... |
OMIM:180295 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Anosmia, Hyposmia |
OMIM:610628 |
Cowden Syndrome |
|
High palate, Failure to thrive, Abnormality of the thyroid gland, Macroglossia, Abnormal penis mo... |
ORPHA:201 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormal concentration of acylcarnitine in the... |
ORPHA:391428 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Wide nasal bridge, Wide nasal base |
OMIM:616521 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... |
ORPHA:905 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... |
OMIM:602782 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... |
ORPHA:71526 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
High palate, Protruding ear, Narrow mouth, Hepatomegaly, Cerebral atrophy, Hypodontia, Short phil... |
OMIM:618443 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Thenar muscle atrophy, Narrow mouth, Hypoplasia of the musculature, Eunuchoid habitu... |
ORPHA:2463 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Thyroid hypoplasia, Prolonge... |
ORPHA:226307 |
Noonan Syndrome 5 |
|
Wide mouth, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Depressed nasal bridge, Larg... |
OMIM:611553 |
Kabuki Syndrome |
|
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Micr... |
ORPHA:2322 |
Gaucher Disease, Perinatal Lethal |
|
Narrow mouth, Decreased body weight, Hepatomegaly, Splenomegaly, Microtia, Anemia, Hepatosplenome... |
OMIM:608013 |
Noonan Syndrome |
|
Sensorineural hearing impairment, Abnormal pulmonary valve morphology, High palate, Hepatomegaly,... |
ORPHA:648 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Obesity, Thin upper... |
OMIM:301013 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
3Q29 Microduplication Syndrome |
|
High palate, Low-set ears, Ectopic anus, Cleft palate, Abnormality of the dentition, Camptodactyl... |
ORPHA:251038 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Bulbous nose, Tall stature, Depressed nasal bridge, Downturned corners of mouth, Short nose, Tent... |
OMIM:618430 |
Bardet-Biedl Syndrome 22 |
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Large for gestational age, Obesity |
OMIM:617119 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Depressed nasal bridge, Tented upper lip vermilion, Abnormal heart morphology, Hypoparathyroidism... |
ORPHA:369837 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Thyroid Dyshormonogenesis 5 |
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Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
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Hypothyroidism, Goiter |
OMIM:274800 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... |
ORPHA:90301 |
Igg4-Related Ophthalmic Disease |
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Sialadenitis, Pancreatitis, Orchitis, Abnormality of the extraocular muscles, Abnormality of infr... |
ORPHA:449563 |
Fucosidosis |
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Glycopeptiduria, Hepatomegaly, Vacuolated lymphocytes, Cerebral atrophy, Splenomegaly, Macrogloss... |
OMIM:230000 |
Oxoglutaric Aciduria |
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Abnormal urine alpha-ketoglutarate concentration, Skeletal muscle atrophy, Abnormal salivary glan... |
ORPHA:31 |
Developmental And Epileptic Encephalopathy 95 |
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Multiple joint contractures, Gingival overgrowth, Cerebellar vermis atrophy, Hepatomegaly, Crypto... |
OMIM:618143 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
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High palate, Failure to thrive, Convex nasal ridge, Hypoplastic left heart, Low hanging columella... |
OMIM:610543 |
Cantu Syndrome |
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Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... |
OMIM:239850 |
Thyroid Dyshormonogenesis 1 |
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Hypothyroidism, Goiter, Macroglossia |
OMIM:274400 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Splenomegaly, Facial palsy, Xerostomia, Camptodactyly of finger,... |
ORPHA:90340 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
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Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Mend Syndrome |
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High palate, Failure to thrive, Aortic valve stenosis, Cryptorchidism, Cleft palate, Limb hyperto... |
ORPHA:401973 |
Ciliary Dyskinesia, Primary, 30 |
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Situs inversus totalis, Dextrocardia, Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... |
ORPHA:99027 |
Schaaf-Yang Syndrome |
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Cryptorchidism, Flexion contracture, Micropenis, Open mouth, Camptodactyly, Abnormality of the ph... |
OMIM:615547 |
Ciliary Dyskinesia, Primary, 1 |
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Conductive hearing impairment, Chronic otitis media, Situs inversus totalis, Chronic rhinitis, An... |
OMIM:244400 |
Beck-Fahrner Syndrome |
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High palate, Protruding ear, EEG abnormality, Long philtrum, Ventricular septal defect, Open mout... |
OMIM:618798 |
Multiple Endocrine Neoplasia, Type Iib |
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High palate, Medullary thyroid carcinoma, Aganglionic megacolon, High, narrow palate, Disproporti... |
OMIM:162300 |
Glycogen Storage Disease Ia |
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Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Medullary Thyroid Carcinoma |
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Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Failure to thrive, Hepatomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, ... |
ORPHA:308552 |
Monosomy 13Q34 |
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Pulmonic stenosis, Broad nasal tip, Epistaxis, Common atrium, Posteriorly rotated ears, Prominent... |
ORPHA:96168 |
White-Sutton Syndrome |
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High palate, Broad nasal tip, Short philtrum, Depressed nasal bridge, Optic atrophy, Open mouth, ... |
ORPHA:468678 |
Distal Monosomy 12Q |
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Bulbous nose, Biliary atresia, Bilateral conductive hearing impairment, Pyloric stenosis, Failure... |
ORPHA:96149 |
Pde4D Haploinsufficiency Syndrome |
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Prominent nasal tip, Cryptorchidism, Elevated circulating parathyroid hormone level, Depressed na... |
ORPHA:439822 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... |
OMIM:615630 |
Thyroid Cancer, Nonmedullary, 4 |
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Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
Charge Syndrome |
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Abnormal cardiac septum morphology, Cleft palate, Overfolded helix, Tracheoesophageal fistula, De... |
ORPHA:138 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, ... |
OMIM:602450 |
Bardet-Biedl Syndrome 1 |
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Abdominal obesity, High palate, Nephrogenic diabetes insipidus, Aganglionic megacolon, High, narr... |
OMIM:209900 |
Craniofaciofrontodigital Syndrome |
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Dental malocclusion, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Short n... |
OMIM:114620 |
Proximal 16P11.2 Microdeletion Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Atrial septal... |
ORPHA:261197 |
Thauvin-Robinet-Faivre Syndrome |
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Sensorineural hearing impairment, Tall stature, Macroglossia, Nephroblastoma, Overgrowth, Renal d... |
OMIM:617107 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
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Primary hypothyroidism, Goiter |
OMIM:225040 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Weakness of facial musculature, Dep... |
OMIM:619418 |
2Q37 Microdeletion Syndrome |
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Conductive hearing impairment, Supernumerary nipple, Congenital diaphragmatic hernia, Thin vermil... |
ORPHA:1001 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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High palate, Flexion contracture, Wrist flexion contracture, Male hypogonadism, Macrotia, Obesity... |
OMIM:300055 |
Deiodinase, iodothyronine, type I |
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Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
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Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... |
ORPHA:206443 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529808 |
Glutaric Aciduria Iii |
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Glutaric aciduria, Failure to thrive, Goiter, Hyperthyroidism |
OMIM:231690 |
Melioidosis |
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Splenic abscess, Abnormality of the spleen, Parotitis, Hepatitis, Abnormal parotid gland morpholo... |
ORPHA:31202 |
White-Sutton Syndrome |
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High palate, Cleft palate, Broad nasal tip, Short philtrum, Depressed nasal bridge, Depressed nas... |
OMIM:616364 |
Thyroid Lymphoma |
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Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter, Lymphadenopathy |
ORPHA:97285 |
Leptin Deficiency Or Dysfunction |
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Obesity, Recurrent upper respiratory tract infections |
OMIM:614962 |
Multiple Endocrine Neoplasia Type 1 |
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Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Intestinal carcinoid, ... |
ORPHA:652 |
Cohen Syndrome |
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Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the ... |
ORPHA:193 |
Meacham Syndrome |
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Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Insulinoma |
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Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
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EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Hy... |
OMIM:615418 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Rhabdomyolysis, Goiter, Weight loss, Hyperthyroidism |
OMIM:188580 |
Obesity, Hyperphagia, And Developmental Delay |
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Obesity |
OMIM:613886 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Elevated circu... |
OMIM:614921 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Clark-Baraitser syndrome |
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Maxillary lateral incisor microdontia, Macroorchidism, Tall stature, Prominent median palatal rap... |
OMIM:300602 |
Hardikar Syndrome |
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Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... |
OMIM:301068 |
Distal 16P11.2 Microdeletion Syndrome |
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Narrow mouth, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Vesicoureteral r... |
ORPHA:261222 |
Kallmann Syndrome |
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Sensorineural hearing impairment, Tooth agenesis, Hypoplasia of penis, Cleft palate, Hyposmia, Mi... |
ORPHA:478 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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High palate, Decreased response to growth hormone stimulation test, Micropenis, Decreased testicu... |
ORPHA:457240 |
Adult Krabbe Disease |
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EEG abnormality, Lower limb muscle weakness, Upper limb muscle weakness, Prolonged brainstem audi... |
ORPHA:206448 |
Maffucci Syndrome |
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Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Neoplas... |
ORPHA:163634 |
Infantile Krabbe Disease |
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Failure to thrive, Decreased nerve conduction velocity, Cachexia, Optic atrophy, Diffuse cerebral... |
ORPHA:206436 |
X-Linked Intellectual Disability, Cabezas Type |
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High palate, Wide mouth, EEG abnormality, Hypoplasia of penis, Open bite, Cachexia, Short philtru... |
ORPHA:85293 |
Blepharochalasis And Double Lip |
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Goiter, Duplication of the upper lip |
OMIM:109900 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
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Anteverted nares, Obesity, Short nose |
OMIM:619854 |