Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Pendred Syndrome |
|
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... |
OMIM:274600 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... |
OMIM:600791 |
Pendred Syndrome |
|
Nephropathy, Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impai... |
ORPHA:705 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Benign Schwannoma |
|
Nasal polyposis, Vertigo, Abnormality of the liver, Abnormal cranial nerve morphology, Vestibular... |
ORPHA:252164 |
Brooke-Spiegler Syndrome |
|
Hearing impairment, Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormal au... |
ORPHA:79493 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hernández-Aguirre Negrete Syndrome |
|
Low-set, posteriorly rotated ears, Bulbous nose, Obesity, Deep philtrum, Delayed puberty, EEG abn... |
ORPHA:2139 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology, Sensorineural hearing impairment |
ORPHA:3225 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Hearing impairment, Elevated circulating thyroid-stimulating hormone c... |
OMIM:274300 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Abnormal skeletal muscle morpholo... |
ORPHA:314652 |
Branchiootorenal Syndrome 1 |
|
Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct... |
OMIM:113650 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Depressed nasal ridge, Cleft upper lip, Hyperechogenic kidneys, Cleft palate, Peric... |
OMIM:613885 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity, Underdeveloped nasal alae |
OMIM:300872 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Euthyroid goiter, Renal insufficiency, Sensorineural hearing impairment, Abnormality o... |
ORPHA:3327 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism, Hearing impairment |
OMIM:228355 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Sensorineural hearing impairment, Weakness of facia... |
OMIM:617519 |
Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Global ... |
ORPHA:52368 |
Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Recurrent otitis media, Splenomegaly, Otitis... |
OMIM:608971 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Hypodontia, Obesity, Hearing impairment |
OMIM:620270 |
11P15.4 Microduplication Syndrome |
|
Long philtrum, Anteverted nares, Obesity, Increased overbite, Smooth philtrum, Posteriorly rotate... |
ORPHA:300305 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... |
OMIM:619902 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... |
OMIM:303110 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Skeletal muscle atrophy, Goiter, Sensorineural hearing impairment, Thrombocytopenia |
OMIM:274240 |
Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Hearing impairment, Recurrent otitis media, Hypogonadism, Obesity, Stage 5 chroni... |
OMIM:615993 |
Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Depressed nasal bridge, Elevated circul... |
ORPHA:95716 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Hearing impairment, Hypogonadism, Obesity, Renal insuff... |
OMIM:615996 |
Ciliary Dyskinesia, Primary, 37 |
|
Hearing impairment, Goiter, Situs inversus totalis, Chronic rhinitis, Hypothyroidism, Dextrocardia |
OMIM:617577 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... |
ORPHA:99852 |
Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... |
ORPHA:85443 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... |
OMIM:615285 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Sensorineural hearing impairment, H... |
OMIM:230350 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Hearing impairment, Long philtrum, Thick lower lip vermilion, Tall stature, Larg... |
ORPHA:137634 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Abnormal oral mucosa... |
ORPHA:85445 |
Mehmo Syndrome |
|
Male hypogonadism, Broad nasal tip, Cleft lip, Long philtrum, Widely spaced teeth, Decreased resp... |
OMIM:300148 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... |
OMIM:617610 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... |
OMIM:601596 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... |
OMIM:615382 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... |
ORPHA:93476 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Thick lower lip vermilion, Bulbous nose, Obesity, Bilateral sensorineural hearing impairment, Mac... |
OMIM:300238 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Low-set ears, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase co... |
OMIM:608836 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Low-set ears, Recurrent upper respiratory tract infections, Obesity, High palate |
OMIM:300209 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Clark-Baraitser Syndrome |
|
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Large earlobe, ... |
OMIM:617752 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Cardiomyopathy, Myopathy, Sensorineural hearing impairment, Absent brainstem audit... |
ORPHA:1215 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Abnormality ... |
OMIM:182290 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Large for gestational age,... |
OMIM:600501 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Macrotia |
OMIM:300803 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hyp... |
ORPHA:3055 |
Foxp1 Syndrome |
|
Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Failure to th... |
ORPHA:391372 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Hearing impairment, Ascites, Failure to ... |
ORPHA:858 |
Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat... |
OMIM:617303 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Cryptorchidism, Congenital hepat... |
ORPHA:2377 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Anteverted nares, Large for gestational age, Nephroblastoma, Overgrowth, ... |
OMIM:618272 |
Mehmo Syndrome |
|
Downturned corners of mouth, Large earlobe, Obesity, Cryptorchidism, EEG abnormality, Thick vermi... |
ORPHA:85282 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Wide nasal base, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Oligosacchari... |
OMIM:616354 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity, Short nose |
OMIM:300577 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Obesity, Everted lower lip vermi... |
ORPHA:1193 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Tall stature, Cryptorchidism, Conge... |
ORPHA:116 |
Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Cryptorchidism, Hip... |
OMIM:193700 |
Temple Syndrome |
|
Precocious puberty, Depressed nasal bridge, Bifid uvula, Maturity-onset diabetes of the young, Re... |
OMIM:616222 |
Acrocephalopolydactylous Dysplasia |
|
Low-set ears, Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Abnormal pinna morpholog... |
OMIM:200995 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... |
ORPHA:97290 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Long philtrum, Bulbous... |
ORPHA:480907 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears, Abnormality of the ureter, An... |
ORPHA:1035 |
15Q24 Microdeletion Syndrome |
|
Wide nasal base, Abnormality of the outer ear, Hearing impairment, Narrow mouth, Cryptorchidism, ... |
ORPHA:94065 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Papillary renal cell carcin... |
ORPHA:319487 |
Acromegaloid Facial Appearance Syndrome |
|
Thick nasal alae, Bulbous nose, Large for gestational age |
OMIM:102150 |
Neurooculocardiogenitourinary Syndrome |
|
Low-set ears, Downturned corners of mouth, Bilateral cryptorchidism, Prominent nasal bridge, Pate... |
OMIM:618652 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nasal bridge, Long philtrum, Tall stature, Open mouth, Overweight, Posteriorly rotated ears,... |
OMIM:615032 |
Diaphanospondylodysostosis |
|
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Nephrogenic rest, Nephroblastomatosi... |
OMIM:608022 |
Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... |
ORPHA:79330 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Bifid uvula, Failure to thrive, Camptodactyly of finger, Atrioventricular canal def... |
ORPHA:3047 |
Brain-Lung-Thyroid Syndrome |
|
Failure to thrive, Megacystis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
ORPHA:209905 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... |
OMIM:208540 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... |
OMIM:130650 |
7Q31 Microdeletion Syndrome |
|
Low-set ears, Galactosuria, Enuresis nocturna, Skeletal muscle atrophy, Long philtrum, Childhood ... |
ORPHA:251061 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, Splenomegal... |
ORPHA:397596 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Distal amyotrophy, Hearing impairment, Decreased nerve condu... |
OMIM:601455 |
Pallister-Hall Syndrome |
|
Natal tooth, Atresia of the external auditory canal, Cryptorchidism, Ventricular septal defect, A... |
OMIM:146510 |
Cowden Syndrome 5 |
|
Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Narrow mouth, ... |
OMIM:615108 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Recurrent upper respiratory tract infections, Broad nasal tip, Long philtrum, Recurrent otitis me... |
ORPHA:589905 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Long philtrum, Recurrent otitis media, Lymphopenia, Obesity, Large for ge... |
OMIM:605309 |
Alg9-Cdg |
|
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Ventricular septal defect, Atrial... |
ORPHA:79328 |
H Syndrome |
|
Hearing impairment, Cleft upper lip, Histiocytosis, Hypogonadism, Decreased testicular size, Hepa... |
ORPHA:168569 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Cholestasis, Elevated circulatin... |
OMIM:619658 |
Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Low-set ears, Depressed nasal bridge, Renal hypoplasia, Renal agenesis, Cerebral atrophy, Long ph... |
ORPHA:171839 |
Rafiq Syndrome |
|
Low-set ears, Wide nasal bridge, Bulbous nose, Prominent nose, Obesity, Underdeveloped nasolabial... |
OMIM:614202 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Wide nasal bridge, Cerebral cortical atrophy, Downturned corners of mouth, Large fleshy ears, Obe... |
ORPHA:352530 |
Joubert Syndrome 37 |
|
Low-set ears, Wide nasal bridge, Decreased testicular size, Anteverted nares, Obesity, Cryptorchi... |
OMIM:619185 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age, Median cleft palate |
ORPHA:2432 |
Trisomy 10P |
|
Low-set ears, Decreased muscle mass, Absent gallbladder, Abnormality of the kidney, High palate, ... |
ORPHA:171929 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Cerebral atrophy, Ascites, Anteverted nares, Gingival overgrowth, Splenomegaly... |
OMIM:269920 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Incre... |
ORPHA:562 |
Chung-Jansen Syndrome |
|
Long philtrum, Large earlobe, Anteverted nares, Obesity, Cryptorchidism, Short philtrum, Short no... |
OMIM:617991 |
Cowden Syndrome 6 |
|
Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Narrow mouth, ... |
OMIM:615109 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Depressed nasal bridge, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy... |
OMIM:619260 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Xerostomia, Hearing impairment, Ureterocele, Cryptorchidism, Absence of Stensen du... |
OMIM:604292 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Low-set ears, Renal hypoplasia, Bulbous nose, Tall stature, Obesity, Facial hypotonia, Thin upper... |
OMIM:620439 |
Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... |
OMIM:306955 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long philtrum, Thin upper lip vermilion, Optic disc pallor, ... |
OMIM:617523 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... |
ORPHA:64744 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia, Distal amyotrophy, Hearing impairment, Cerebral atrophy, Decreased nerve conduction velo... |
OMIM:609136 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... |
OMIM:615415 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Depressed nasal bridge, Pyloric stenosis, Bifid uvula, Maturity-onset diabete... |
ORPHA:96184 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Bilateral cryptorchidism, Prom... |
OMIM:617796 |
Mast Cell Sarcoma |
|
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Weight loss, Lymphadenopathy, Hepato... |
ORPHA:66661 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia, Macrotia |
OMIM:613576 |
Transaldolase Deficiency |
|
Low-set ears, Hepatosplenomegaly, Pancytopenia, Ventricular septal defect, Cirrhosis, Atrial sept... |
OMIM:606003 |
Trisomy 5P |
|
Protruding ear, Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia |
ORPHA:1742 |
Autosomal Recessive Polycystic Kidney Disease |
|
Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepato... |
ORPHA:731 |
Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Hearing impairment, Heparan sulfate excretion in ur... |
OMIM:252920 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepati... |
OMIM:300280 |
Oculoskeletodental Syndrome |
|
Wide nasal bridge, Protein-losing enteropathy, Broad columella, Hearing impairment, Renal agenesi... |
OMIM:618440 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... |
OMIM:129900 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Cryptorchidism, Delayed puberty, EEG abnormality, Micropenis, Macrotia |
OMIM:301900 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:101085 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... |
OMIM:619326 |
Aredyld Syndrome |
|
Type I diabetes mellitus, Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal ... |
ORPHA:1133 |
Cowden Syndrome 1 |
|
Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Lymphopenia, N... |
OMIM:158350 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Depressed nasal bridge, Carious teeth, Organic aciduria, Long philtrum, Large earlobe, Bulbous no... |
OMIM:620191 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Depressed nasal ridge, Renal hypoplasia, Long philtrum, Anteverted nares, Obesity, Vesicoureteral... |
ORPHA:464288 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Conductive hearing impairment, Atresia of the external auditory canal, Abnormal ... |
OMIM:154500 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Optic nerve compre... |
ORPHA:79078 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite... |
OMIM:256550 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Goiter, D... |
ORPHA:226313 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
X-Linked Intellectual Disability, Stevenson Type |
|
Broad columella, Thick nasal alae, Tall stature, Obesity, Tented upper lip vermilion, Microdontia... |
ORPHA:85325 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity |
OMIM:618406 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Abnormality of the dentition, Elevated circulating hepatic transaminase concentrat... |
ORPHA:90321 |
Lacrimoauriculodentodigital Syndrome |
|
Low-set ears, Carious teeth, Xerostomia, Cryptorchidism, Sensorineural hearing impairment, Abnorm... |
ORPHA:2363 |
Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Unilateral renal agenesis, Hyperparathyr... |
OMIM:618188 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Low-set ears, Hearing impairment, Everted upper lip vermilion, Widely spaced teeth, Anteverted na... |
OMIM:619056 |
Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Everted lower ... |
OMIM:615873 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cerebral cortical atrophy, Hearing impairment, Oligosacchariduria, Vertigo, Cardiomegaly, Thick v... |
ORPHA:3137 |
Microtriplication 11Q24.1 |
|
Hearing impairment, Obesity, Attached earlobe, Smooth philtrum, Irregularly spaced teeth, Short p... |
ORPHA:289522 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... |
OMIM:620186 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... |
ORPHA:500095 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Macrotia |
OMIM:300886 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hearing impairment, Limb muscle weakness, Myopathy, Hypomimic face, Quadriceps muscle weakness, G... |
ORPHA:254892 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Anosmia, Obesity |
OMIM:619755 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ... |
ORPHA:2298 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Mucopolysacch... |
ORPHA:93474 |
Graves Disease |
|
Abnormal abdomen morphology, Graves disease, Goiter, Increased circulating free T3, Weight loss, ... |
OMIM:275000 |
19P13.12 Microdeletion Syndrome |
|
Low-set ears, Precocious puberty, Conductive hearing impairment, Arthrogryposis multiplex congeni... |
ORPHA:254346 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Weig... |
ORPHA:449395 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Downturned corners of mouth, Low-set, posteriorly rotated ears, Abnormal hear... |
ORPHA:254525 |
13Q12.3 Microdeletion Syndrome |
|
Hearing impairment, Underdeveloped nasal alae, Failure to thrive, Obesity, Cryptorchidism, Congen... |
ORPHA:412035 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Depressed nasal bridge, Contractures of the large joints, Bulbous nose, Pr... |
ORPHA:324410 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Obesity, Overweight, Hearing impairment |
OMIM:614651 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Convex nasal ridge, Primary gonadal in... |
OMIM:210740 |
Fucosidosis |
|
Abnormality of the dentition, Hearing impairment, Failure to thrive, Decreased muscle mass, Abnor... |
ORPHA:349 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous system ph... |
ORPHA:83601 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Apert Syndrome |
|
Optic atrophy, Choanal atresia, Depressed nasal bridge, Conductive hearing impairment, Bifid uvul... |
ORPHA:87 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Obesity, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Short ... |
ORPHA:254531 |
6Q16 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Bulbous nose, Anteverted nares, Obesity, Abnormal ear morph... |
ORPHA:171829 |
Sotos Syndrome |
|
Low-set ears, Tall stature, Cryptorchidism, Ventricular septal defect, Increased body weight, Atr... |
OMIM:117550 |
Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Increased ... |
ORPHA:890 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Birth length greater ... |
OMIM:312870 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Hearing impairment, Cryptorchidism, Protruding tongue, Everted lower lip v... |
ORPHA:96147 |
Ogden Syndrome |
|
Low-set ears, Flared nostrils, Everted upper lip vermilion, Recurrent otitis media, Thick upper l... |
OMIM:300855 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i... |
OMIM:203800 |
Joubert Syndrome 32 |
|
Depressed nasal bridge, Tall stature, Large for gestational age, Hypertrophic cardiomyopathy |
OMIM:617757 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Hearing impairment, Situs inversus totalis, Otitis media, Dextrocardia, Absent i... |
OMIM:606763 |
Summitt Syndrome |
|
Depressed nasal ridge, Camptodactyly of finger, Tall stature, Obesity, Wide nose |
ORPHA:3210 |
Leprechaunism |
|
Low-set ears, Megarectum, Nephrocalcinosis, Long penis, Skeletal muscle atrophy, Failure to thriv... |
ORPHA:508 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
X-Linked Intellectual Disability, Shashi Type |
|
Bulbous nose, Obesity, Everted lower lip vermilion, Macroorchidism, Macrotia |
ORPHA:85286 |
Immunodeficiency 61 |
|
Recurrent otitis media, Obesity, Recurrent sinusitis |
OMIM:300310 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Hearing impairment, Tooth agenesis, Obesity, Hip contracture, Amelogenesis imperfe... |
OMIM:618363 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Obesity |
OMIM:615984 |
Ascher Syndrome |
|
Goiter, Abnormal upper lip morphology, Hypothyroidism, High palate, Wide nose |
ORPHA:1253 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Low-set ears, Depressed nasal bridge, Nephrocalcinosis, Abnormality of the dentition, Cerebellar ... |
OMIM:615398 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Conductive hearing impairment, Hearing impairment, Polysplenia, Nasal congestion... |
ORPHA:244 |
Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Goite... |
ORPHA:525731 |
Mucolipidosis Ii Alpha/Beta |
|
Cerebral cortical atrophy, Depressed nasal bridge, Arthrogryposis multiplex congenita, Failure to... |
OMIM:252500 |
Endocrine-Cerebroosteodysplasia |
|
Low-set ears, Wide nasal bridge, Natal tooth, Microphallus, Hyperechogenic kidneys, Thick upper l... |
OMIM:612651 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Hearing impairmen... |
OMIM:617394 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... |
OMIM:604387 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Protruding ear, Large for gestational age, Widely spaced teeth |
OMIM:616116 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Obesity, Type II diabetes mellitus, Microdon... |
ORPHA:3191 |
Perlman Syndrome |
|
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Distal ileal atresia, Visceromegaly, Ren... |
OMIM:267000 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, EEG abnormality |
OMIM:614096 |
Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Bulbous nose, Obesity, Short nose |
OMIM:611936 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellit... |
ORPHA:3085 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Episodic hemolytic anem... |
ORPHA:251004 |
Idiopathic Intracranial Hypertension |
|
Vertigo, Obesity, Focal sensory seizure with olfactory features, Papilledema, Pulsatile tinnitus |
ORPHA:238624 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Weight loss, Lymphadenopa... |
ORPHA:142 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Broad nasal tip, Upper limb muscle weakness, Recurrent otitis media, Moderate hearing impairment,... |
ORPHA:370010 |
Treacher-Collins Syndrome |
|
Open bite, Narrow mouth, Cryptorchidism, Abnormality of the middle ear, High palate, Rectovaginal... |
ORPHA:861 |
Mucopolysaccharidosis Type 6 |
|
Recurrent upper respiratory tract infections, Hearing impairment, Failure to thrive, Thick lower ... |
ORPHA:583 |
Urban-Rogers-Meyer Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Hypogonadism, Abnormality of the ure... |
ORPHA:3409 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
Radio-Tartaglia Syndrome |
|
Low-set ears, Hearing impairment, Ventricular septal defect, Prominent nasal tip, High palate, Hi... |
OMIM:619312 |
Joubert Syndrome 10 |
|
Low-set ears, Wide nasal bridge, Conductive hearing impairment, Obesity, Decreased body weight, D... |
OMIM:300804 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Atrial septal defect,... |
ORPHA:505248 |
Chops Syndrome |
|
High, narrow palate, Optic atrophy, Hearing impairment, Downturned corners of mouth, Long philtru... |
OMIM:616368 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Open mouth, Renal hypoplasia/aplasia, Delayed eruption of primary teet... |
ORPHA:819 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Obesity, Sensorineural hearing impairment, Absence of acoustic reflex... |
OMIM:619737 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Low-set ears, Depressed nasal bridge, Underdeveloped nasal alae, Thick lower lip vermilion, Thick... |
OMIM:608624 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Narrow palate, Hearing impairment, Long philtrum, Macrotia, Obesity, Wide mout... |
OMIM:620250 |
Cockayne Syndrome A |
|
Carious teeth, Cryptorchidism, Hip contracture, Sensorineural hearing impairment, Delayed eruptio... |
OMIM:216400 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Abdominal situs ambiguus, Situs inversus totalis, Chronic rhinitis, Chronic otit... |
OMIM:617092 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Cupped ear, Dilatation of the renal pelvis, Horseshoe ki... |
ORPHA:314588 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Mediastinal lymphadenopathy, Peric... |
OMIM:181000 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Abnormal autonomic nervous system physiol... |
ORPHA:85447 |
Chromosome 2Q37 Deletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Anteverted nares, Obesity, Sensorineural hearing impairm... |
OMIM:600430 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, A... |
ORPHA:464329 |
Kleefstra Syndrome 1 |
|
Natal tooth, Hearing impairment, Obesity, Anteverted nares, Persistence of primary teeth, Cryptor... |
OMIM:610253 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Low-set ears, Depressed nasal bridge, Wide nasal bridge, Abnormal dental enamel morphology, Bulbo... |
ORPHA:2180 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer,... |
ORPHA:79259 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Low-set ears, Large fleshy ears, Open mouth, Congenital diaphragmatic hernia, Atrial septal defec... |
OMIM:614080 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Low-set ears, Cholestasis, Decreased circulating T4 concentration, Sensorineural hearing impairme... |
OMIM:610199 |
Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Failu... |
OMIM:276700 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Absent extraocular muscles, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Wide nasal bridge, Hypospadias, Unilateral cleft lip, Large fleshy ears, Ascites, H... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EEG with burst suppressi... |
OMIM:617713 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Low-set ears, Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Tall stature, O... |
OMIM:618089 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Nasal congestion, Situs inversus totalis, Ventricular septal defect, Dextrocardi... |
OMIM:616037 |
Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
Carpenter Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Cryptorchidism, Sensorineural hearing impairment, Ve... |
OMIM:201000 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Obesity, Wide nasal bridge |
OMIM:616521 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Overgrowth, Ovarian serous cystadenoma, Hydr... |
ORPHA:276280 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Downturned corners of mouth, Cerebral atrophy, Puberty and gonadal disorders, Obesity, Sensorineu... |
ORPHA:464282 |
Cockayne Syndrome B |
|
Carious teeth, Cryptorchidism, Sensorineural hearing impairment, Delayed eruption of primary teet... |
OMIM:133540 |
Xq21 Microdeletion Syndrome |
|
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl... |
ORPHA:1435 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Abnormality of the dentition, Natal tooth, Failure to thrive, Hearing impairm... |
ORPHA:261652 |
Refsum Disease, Classic |
|
Anosmia, Cardiomyopathy, Limb muscle weakness, Sensorineural hearing impairment, Cardiomegaly, Ab... |
OMIM:266500 |
Septo-Optic Dysplasia Spectrum |
|
Anosmia, Obesity, Cryptorchidism, Sensorineural hearing impairment, Tracheoesophageal fistula, Es... |
ORPHA:3157 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hypothyroidism, Increased body weight, Increased T3/T4 rati... |
OMIM:614450 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Down Syndrome |
|
Narrow mouth, Open mouth, Protruding tongue, Renal hypoplasia/aplasia, Ventricular septal defect,... |
ORPHA:870 |
Kleefstra Syndrome |
|
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aor... |
ORPHA:261494 |
Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid... |
OMIM:180295 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Anemia, Hearing impairment |
OMIM:618838 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Sensorineural he... |
OMIM:612541 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... |
ORPHA:226307 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Dystonia |
OMIM:614702 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Obesity, Thin upper lip vermilion, Abnormality of superior crus of antih... |
OMIM:301013 |
Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Atrial septal defect, High palate, Anal atresia, Shor... |
ORPHA:96148 |
8P23.1 Microdeletion Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardio... |
ORPHA:251071 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Wide nasal bridge, Cerebral cortical atrophy, Prominent antihelix, Cerebellar atrophy, Decreased ... |
OMIM:613744 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Situs inversus totalis |
OMIM:615985 |
Noonan Syndrome 4 |
|
Low-set ears, Depressed nasal bridge, Dental malocclusion, Hypertrophic cardiomyopathy, Large for... |
OMIM:610733 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Delayed eruption of permanent teeth, Congenital hypothyroidism, Tented upper l... |
ORPHA:521445 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Obesity, Hyposmia |
OMIM:617885 |
Wagr Syndrome |
|
Obesity, Hearing abnormality, Cryptorchidism, Displacement of the urethral meatus, Everted lower ... |
ORPHA:893 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:602450 |
Noonan Syndrome 8 |
|
Low-set ears, Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Cryptorc... |
OMIM:615355 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent otitis media, Lymphopeni... |
OMIM:615518 |
Kabuki Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Renal hypoplas... |
ORPHA:2322 |
Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Adenoma sebaceum, Hearing impairment, Fa... |
ORPHA:201 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Hypoplastic left heart, Failure to thrive, Polysplenia, Prominent nose, Obesity, Convex nasal rid... |
OMIM:610543 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Tall stature, Ob... |
OMIM:618430 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Disproportionate tall stature, Thenar m... |
ORPHA:2463 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Low-set ears, Cerebellar atrophy, Cerebral atrophy, Long philtrum, Macrodontia, Anteverted nares,... |
OMIM:618443 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... |
ORPHA:71526 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Long-Olsen-Distelmaier Syndrome |
|
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Elevated ... |
OMIM:620609 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
48,Xxyy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Tall stature, Obe... |
ORPHA:10 |
3Q29 Microduplication Syndrome |
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Low-set ears, Wide nasal bridge, Abnormality of the dentition, Hearing impairment, Obesity, Ventr... |
ORPHA:251038 |
Blau Syndrome |
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Nephropathy, Xerostomia, Abnormal salivary gland morphology, Camptodactyly of finger, Abnormality... |
ORPHA:90340 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps... |
OMIM:602782 |
Noonan Syndrome 5 |
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Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Large for gestational age, Cry... |
OMIM:611553 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hearing impairment, Birth length greater than 97th percentile, Narrow mouth, Hip contracture, Cir... |
OMIM:300868 |
Bardet-Biedl Syndrome 22 |
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Obesity, Large for gestational age |
OMIM:617119 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Atrial septal defect, Hypoparathyro... |
ORPHA:369837 |
Oxoglutaric Aciduria |
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Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Skeletal mu... |
ORPHA:31 |
Ciliary Dyskinesia, Primary, 1 |
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Anosmia, Nasal polyposis, Conductive hearing impairment, Situs inversus totalis, Chronic rhinitis... |
OMIM:244400 |
Ataxia-Oculomotor Apraxia Type 4 |
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Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness |
ORPHA:459033 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esoph... |
OMIM:314390 |
Leptin Deficiency Or Dysfunction |
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Obesity, Recurrent upper respiratory tract infections |
OMIM:614962 |
Developmental And Epileptic Encephalopathy 95 |
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Cerebral cortical atrophy, Macroglossia, Cerebellar atrophy, Hearing impairment, Cerebral atrophy... |
OMIM:618143 |
Gaucher Disease, Perinatal Lethal |
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Low-set ears, Depressed nasal bridge, Hepatic failure, Everted upper lip vermilion, Ascites, Hepa... |
OMIM:608013 |
Mend Syndrome |
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Low-set ears, Asymmetry of the mouth, Aortic valve stenosis, Abnormal auditory evoked potentials,... |
ORPHA:401973 |
Wilson Disease |
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Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:905 |
White-Sutton Syndrome |
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Low-set ears, Abnormality of the outer ear, Congenital diaphragmatic hernia, Sensorineural hearin... |
OMIM:616364 |
Waardenburg Syndrome, Type 2E |
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Anosmia, Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear... |
OMIM:611584 |
Thyroid Dyshormonogenesis 5 |
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Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
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Hypothyroidism, Goiter |
OMIM:274800 |
Ciliary Dyskinesia, Primary, 19 |
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Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Absent inner and outer dynein arms,... |
OMIM:614935 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
Igg4-Related Ophthalmic Disease |
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Abnormal fifth cranial nerve morphology, Retroperitoneal fibrosis, Colon cancer, Sialadenitis, Or... |
ORPHA:449563 |
Proximal 16P11.2 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Conductive hearing impairment, Failure to thrive, Abnormal heart mo... |
ORPHA:261197 |
White-Sutton Syndrome |
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Abnormality of the outer ear, Open mouth, Narrow mouth, Congenital diaphragmatic hernia, Sensorin... |
ORPHA:468678 |
Cantu Syndrome |
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Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Long philtru... |
OMIM:239850 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity |
ORPHA:329249 |
Thyroid Dyshormonogenesis 1 |
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Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Anosmia, Obesity, Hyposmia |
OMIM:610628 |
Congenital Disorder Of Glycosylation, Type It |
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Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, D... |
OMIM:614921 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
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Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Underdeveloped tragus, Pancytopeni... |
OMIM:620654 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
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Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... |
OMIM:613239 |
Thyroid Cancer, Nonmedullary, 4 |
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Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
Medullary Thyroid Carcinoma |
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Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
Schaaf-Yang Syndrome |
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Low-set ears, Failure to thrive in infancy, Hypogonadism, Obesity, Open mouth, Cryptorchidism, Ca... |
OMIM:615547 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
Infantile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... |
ORPHA:206436 |
Ciliary Dyskinesia, Primary, 22 |
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Nasal polyposis, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Dextrocardi... |
OMIM:615444 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
2Q37 Microdeletion Syndrome |
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Depressed nasal bridge, Multicystic kidney dysplasia, Conductive hearing impairment, Broad colume... |
ORPHA:1001 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Failure to ... |
ORPHA:90674 |
Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hepatic fibrosis, Dental crowding, Hearing impairment, Abnormality of the ov... |
OMIM:209900 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hearing impairment, Tremor, Patent foramen ovale, Atrial septal defect, Exaggerated startle response |
OMIM:620327 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
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Nasal polyposis, Situs inversus totalis, Recurrent sinusitis |
OMIM:620197 |
Glycogen Storage Disease Ia |
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Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... |
OMIM:232200 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... |
OMIM:615630 |
Lethal Congenital Contracture Syndrome 10 |
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Low-set ears, Narrow palate, Increased variability in muscle fiber diameter, Long philtrum, Ventr... |
OMIM:617022 |
Monosomy 13Q34 |
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Epistaxis, Broad nasal tip, Abnormal earlobe morphology, Prominent nose, Prominent nasal bridge, ... |
ORPHA:96168 |
Thyroid Lymphoma |
|
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism |
ORPHA:97285 |
Multiple Endocrine Neoplasia, Type Iib |
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High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Thick lo... |
OMIM:162300 |
Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:618280 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Multiple Endocrine Neoplasia Type 1 |
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Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Noonan Syndrome |
|
Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Low-... |
ORPHA:648 |
Cohen Syndrome |
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Aplasia/Hypoplasia of the earlobes, Optic atrophy, High, narrow palate, Abnormality of the dentit... |
ORPHA:193 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Abnormal localization of kidney, Low-set, posteriorly rotated ears, Intestinal malrotation, Narro... |
ORPHA:2166 |
Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... |
ORPHA:529808 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypospadias, Elevated circulating parathyroid hormone level, Hearing impa... |
ORPHA:439822 |
Distal Deletion 12Q |
|
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Polycystic kidney dys... |
ORPHA:96149 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter |
OMIM:188580 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hyperthyroidism, Failure to thrive, Goiter |
OMIM:231690 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Melioidosis |
|
Hepatitis, Parotitis, Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morpholo... |
ORPHA:31202 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Micropenis, Hig... |
ORPHA:457240 |
Fucosidosis |
|
Low-set ears, Depressed nasal bridge, Generalized amyotrophy, Hearing impairment, Cerebral atroph... |
OMIM:230000 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers, Left ven... |
OMIM:615418 |
Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... |
ORPHA:163634 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Recurren... |
OMIM:619680 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hearing impairment, Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hy... |
ORPHA:308552 |
Clark-Baraitser syndrome |
|
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Tall stature, Antev... |
OMIM:300602 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
Proteus Syndrome |
|
Low-set ears, Carious teeth, Decreased muscle mass, Myofibrillar myopathy, Exostosis of the exter... |
ORPHA:744 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Anteverted nares, Short nose |
OMIM:619854 |