Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri... |
OMIM:608636 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, EEG abnormality, Prolinuria, Hydroxy... |
OMIM:239500 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Bruxism, EEG abnormality, Falls, Inappropriate laughter, Dys... |
OMIM:619150 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... |
ORPHA:251282 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Low-set ears, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged... |
OMIM:613885 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Inability to walk, Optic atrophy, Low anterio... |
OMIM:617303 |
Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Aggr... |
OMIM:252920 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... |
ORPHA:99027 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropathy, Abnormal... |
ORPHA:85447 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Hirsutism, Enlarged kidney |
ORPHA:90301 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... |
OMIM:618718 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300495 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, G... |
OMIM:600795 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Dysesthesia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Cardio... |
OMIM:619259 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... |
ORPHA:1215 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Posteriorly rotated ear... |
OMIM:608836 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Loss of ambulati... |
ORPHA:391428 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria,... |
ORPHA:251004 |
Ocular Motor Apraxia |
|
Jerky head movements, Nephronophthisis |
OMIM:257550 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Urinary incontinence, Chorea, Progressive gait ataxia,... |
ORPHA:157946 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Macrotia, Cardiomegaly |
OMIM:613576 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Inability to walk, Optic atrophy, Ab... |
ORPHA:505248 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, EEG abnormality, Gait dist... |
ORPHA:157941 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Posteriorly rotated ears, Left atrial enlargement, Cardio... |
OMIM:300280 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Low-set ears, Cystic renal dysplasia, En... |
OMIM:608022 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopat... |
OMIM:266500 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Mitral valve prolapse, Recurrent hand flappi... |
OMIM:300624 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhe... |
OMIM:608049 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia |
ORPHA:79136 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial glycogen con... |
OMIM:261740 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of the bladder, Torticollis, Ventricu... |
ORPHA:79328 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Sensorineural hearing impairment, Limb ataxia... |
OMIM:105210 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Inability to walk, Chorea, Pollakisuria, Brachial plexus neuropathy, Tip-toe gait, ... |
ORPHA:268 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrotia, Cardiomegaly |
OMIM:300886 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, Fair hair |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Attention deficit hyperactivity disorder, M... |
OMIM:618504 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... |
OMIM:618280 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal repetitive ... |
ORPHA:488618 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be... |
OMIM:617044 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnorm... |
OMIM:615873 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the kidney, Hypertrichosis, Hepatosplenomeg... |
ORPHA:168569 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Hearing impairment, Cardiomegaly |
ORPHA:858 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Alopecia, Fair hair, Cardiomegaly, Sensorineur... |
ORPHA:79330 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Atrial s... |
OMIM:618652 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... |
OMIM:619260 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Mucopolysacchariduria, Ti... |
OMIM:252500 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Ogden Syndrome |
|
Global glomerulosclerosis, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricul... |
OMIM:300855 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Abnormal pinna morphology, Low-set ears, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements |
ORPHA:240103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Synophrys, Long eyelashes, Cardiomegaly |
OMIM:619064 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Urinary incontinence... |
OMIM:268800 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Hearing impairment, Cardiomegaly |
ORPHA:3137 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Ventricular septal defect, Fine hair, Shuffling gait, Low-s... |
ORPHA:276432 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Cardiomegaly |
ORPHA:42 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Proteinuria, Ataxia, Trem... |
ORPHA:90321 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma |
OMIM:253250 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Microphallus, Low-set ears, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineural hearing impairment, Nephrot... |
OMIM:617713 |
Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Protruding ear, EEG abnormality, Attention deficit hyper... |
OMIM:618798 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Coarse hair, Thickened helices, Conductive hearing impairment, Loss of a... |
ORPHA:581 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Otosclerosis, Nephroblastoma, Cardiomegaly, Splenomegaly, Nep... |
ORPHA:116 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnormal auditory evoked ... |
ORPHA:909 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Posteriorly rotated ears, Ataxia, Highly arched eyebrow, Cardiomegaly, EEG with bur... |
OMIM:618143 |
Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph... |
OMIM:239850 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Low... |
ORPHA:508 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cardiomegaly, Micropenis, Large... |
OMIM:616897 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, Ataxia,... |
OMIM:609136 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Cardiomegaly |
OMIM:618838 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Microtia, Enlarged kidney |
ORPHA:276280 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Childhood Absence Epilepsy |
|
Urinary incontinence, Punding, Attention deficit hyperactivity disorder, Jerky head movements, EE... |
ORPHA:64280 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Cockayne Syndrome A |
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Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Abnormal pinna morphology, Abnormal aud... |
OMIM:216400 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Renal cyst, Atrial septal defect, Posterior helix pit, Hepatomegaly, Hypospadias, Anterior crease... |
OMIM:312870 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Timothy Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Cockayne Syndrome B |
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Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Abnormal pinna morphology, Abnormal aud... |
OMIM:133540 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Lethal Acantholytic Erosive Disorder |
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Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Abnorm... |
ORPHA:158687 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... |
OMIM:601214 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Microtia, L... |
OMIM:608013 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Low-set ears, Dyst... |
OMIM:230000 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis, Multifocal epileptiform ... |
ORPHA:369837 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Microtia, Low-set ears, Cardiomegaly |
OMIM:613320 |
Fucosidosis |
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Hepatomegaly, Mucopolysacchariduria, Hearing impairment, Cardiomegaly |
ORPHA:349 |
Cantú Syndrome |
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Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
Cirrhotic Cardiomyopathy |
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Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... |
ORPHA:57777 |
Mend Syndrome |
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Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Abnormal heart morpholog... |
ORPHA:401973 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Difficulty walking, Hearing impai... |
OMIM:232300 |
Abetalipoproteinemia |
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Impaired vibratory sensation, Hepatomegaly, Broad-based gait, Ataxia, Impaired distal propriocept... |
ORPHA:14 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Low-set ears |
OMIM:617022 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Sensorineural hearing impair... |
OMIM:602782 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Sickle Cell Disease |
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Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, T... |
OMIM:300967 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Prominent antitragus, Mitral valve prolapse, Low posterior h... |
OMIM:245600 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Cardiomegaly, Inability to walk, Oligosacchariduria, Difficulty walking, Dysphagia,... |
ORPHA:365 |
Bohring-Opitz Syndrome |
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Low-set, posteriorly rotated ears, Cardiomegaly, Inability to walk, Synophrys, Optic atrophy, Abn... |
ORPHA:97297 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly, Synophrys, Low posterior hairline, Macrotia, Hirsutism |
ORPHA:2463 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal tubulointerstitial mor... |
ORPHA:904 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Sandifer Syndrome |
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Abnormal head movements, Torticollis |
ORPHA:71272 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Tinnitus, Hearing impairment, Cardiomegaly |
ORPHA:79280 |
Aicardi-Goutières Syndrome |
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Cardiomegaly, Tremor, Hepatosplenomegaly, Micropenis, Low-set ears, Dystonia, Difficulty walking,... |
ORPHA:51 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst |
ORPHA:137675 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Dystonia |
OMIM:618278 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Cardiomegal... |
ORPHA:3472 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Recurrent urinary tract infections, Dry hair, Ventricular septal defect, Left atria... |
OMIM:619991 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Cardiomegaly |
ORPHA:96191 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Stapes ankylosis, Hyperphosphaturia, Mixed hearing impairment, Calcifica... |
ORPHA:51608 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Sparse axillary hair, Cardiomegaly, Splenomegaly, Premature graying of hair, Macrot... |
OMIM:256040 |
Singleton-Merten Syndrome 1 |
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Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterio... |
OMIM:182250 |