Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
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 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Depre... |
OMIM:168605 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
Manganese Poisoning |
|
Akinesia, Aggressive behavior, Hypersexuality, Depression, Irritability, Gait disturbance, Inappr... |
ORPHA:306682 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia, Weight loss |
ORPHA:30925 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
Central Diabetes Insipidus |
|
Anorexia, Depression, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Depression, Irrit... |
ORPHA:399 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity |
OMIM:309585 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation |
OMIM:616116 |
Obesity And Hypopigmentation |
|
Overgrowth, Polyphagia, Obesity |
OMIM:620195 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:301024 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia |
OMIM:614963 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis, Cough |
OMIM:619468 |
Adiposis Dolorosa |
|
Obesity, Depression |
OMIM:103200 |
Postencephalitic Parkinsonism |
|
Akinesia, Abnormal respiratory system physiology, Dysphagia, Depression, Cough, Abnormal aggressi... |
ORPHA:97349 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Pulmonary arterial hypertension, Bulimia, Obesity |
OMIM:614651 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Polyphagia, Obesity |
OMIM:614962 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Akinesia, Weight loss, Depression, Agitation, Shuffling gait, Low frustration tolera... |
ORPHA:411602 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity |
ORPHA:71526 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia, Failure to thrive |
OMIM:125800 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Failure to thrive |
OMIM:304800 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity |
ORPHA:589905 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia |
OMIM:606693 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance |
ORPHA:240071 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Aggressive behavior |
OMIM:300894 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Apnea, Obesity, Choreoathetosis, Shuffling gait, Bruxism, Emotional labilit... |
OMIM:300055 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Impaired social interactions,... |
OMIM:612469 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Neonatal asphyxia, Irritability, Emotional lability, Polydipsia, Failure to thrive... |
ORPHA:525731 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Abnormal eating behav... |
ORPHA:209905 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia |
ORPHA:247234 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Akinesia |
OMIM:619334 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased body weight |
ORPHA:890 |
Marchiafava-Bignami Disease |
|
Ataxia, Aggressive behavior, Gait ataxia, Depression, Addictive alcohol use, Gait disturbance, Ab... |
ORPHA:221074 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Whipple Disease |
|
Ataxia, Cachexia, Anorexia, Respiratory insufficiency, Depression, Cough, Polydipsia |
ORPHA:3452 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Intermittent hyperventilation, Aggressive behavior, Obesity, Low frustrati... |
ORPHA:163681 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gai... |
ORPHA:98794 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia |
ORPHA:199343 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Myofibrillar Myopathy 11 |
|
Overweight, Reduced forced vital capacity, Dysphagia |
OMIM:619178 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Akinesia |
OMIM:607598 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Failure to thrive, Gait disturbance |
ORPHA:213 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Depression, Difficulty w... |
ORPHA:905 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
Congenital Myopathy 12 |
|
Respiratory insufficiency due to muscle weakness, Small for gestational age, Akinesia |
OMIM:612540 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Increased body weight |
ORPHA:276608 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia |
OMIM:616831 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Childhood Absence Epilepsy |
|
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, Hyperven... |
ORPHA:64280 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia |
OMIM:618249 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Epistaxis |
ORPHA:403 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Gait disturbance, Dysp... |
OMIM:234200 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Akinesia, Dysphagia, Decreased body weight |
OMIM:608013 |
Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia, Epistaxis, Pulmonary arterial hypertension |
ORPHA:369929 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia |
OMIM:609454 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Akinesia |
ORPHA:994 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Small for gestational age, Akinesia |
OMIM:619147 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Aggressive behavior, Asthma, Obesity, Cardiorespiratory... |
ORPHA:293987 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Obesity |
OMIM:257500 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Shyness, Aggressive behavior, Obesity, Self-injurious behavior, Self-mu... |
ORPHA:293948 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Polydipsia, Failure to thrive, Tachypnea |
OMIM:239200 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Epistaxis |
ORPHA:251274 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity |
ORPHA:3157 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia |
OMIM:601104 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Polyphagia, Obesity |
ORPHA:179494 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... |
ORPHA:101085 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive |
ORPHA:320 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia |
OMIM:612780 |
Erdheim-Chester Disease |
|
Ataxia, Dyspnea, Weight loss, Pleural effusion, Cough, Polydipsia |
ORPHA:35687 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Epistaxis |
ORPHA:231580 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... |
ORPHA:86309 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Increased body weight, Depression |
OMIM:615830 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Limb ataxia, Gait ataxia |
ORPHA:48818 |
Gitelman Syndrome |
|
Failure to thrive, Polydipsia, Salt craving, Ataxia |
OMIM:263800 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough, Polydipsia |
ORPHA:537 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia, Emotional lability |
ORPHA:2822 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Macrotia, A... |
ORPHA:90321 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Productive cough, Weight loss, Addictive alcohol use, Exertional dyspnea |
ORPHA:520 |
Insulinoma |
|
Polyphagia, Increased body weight |
ORPHA:97279 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Agitation, Increased body weight, Large for gestational age |
ORPHA:263455 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Wolfram Syndrome |
|
Central apnea, Polydipsia, Ataxia, Respiratory insufficiency |
ORPHA:3463 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Small for gestational age, Decreased resting energy expenditure, Inability to walk, Athetosis, Im... |
ORPHA:404454 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Arthrogryposis Multiplex Congenita 5 |
|
Restrictive ventilatory defect, Neonatal respiratory distress, Akinesia |
OMIM:618947 |
Joubert Syndrome 8 |
|
Ataxia, Obesity, Hyperventilation |
OMIM:612291 |
Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Addictive alcohol use |
ORPHA:1930 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Oligomeganephronia |
|
Polydipsia, Small for gestational age |
ORPHA:2260 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Increased body weight, Abdominal obesity, Abnormal temper tantrums, Compulsive behav... |
ORPHA:398069 |
Sotos Syndrome |
|
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... |
OMIM:117550 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:133540 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Ethylene Glycol Poisoning |
|
Ataxia, Tachypnea, Episodic respiratory distress, Euphoria, Addictive alcohol use, Abnormal patte... |
ORPHA:31826 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Arima Syndrome |
|
Dyspnea, Polydipsia, Tachypnea, Ataxia |
OMIM:243910 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Depression, Abdominal obesity, Emotional lability, Mania |
ORPHA:189427 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive |
OMIM:248250 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Polydipsia, Failure to thrive |
ORPHA:18 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411629 |
Adrenocortical Carcinoma |
|
Irritability, Increased body weight, Weight loss |
ORPHA:1501 |
African Trypanosomiasis |
|
Akinesia, Aggressive behavior, Weight loss, Choreoathetosis, Irritability, Gait disturbance, Diff... |
ORPHA:3385 |
Parathyroid Carcinoma |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
Gitelman Syndrome |
|
Respiratory distress, Failure to thrive, Polydipsia, Salt craving |
ORPHA:358 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411634 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Failure to thrive |
OMIM:602522 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use |
ORPHA:90065 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Addictive alcohol use |
ORPHA:57777 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Polydipsia |
ORPHA:731 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive |
ORPHA:47159 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Failure to thrive, Small for gestational age |
OMIM:241200 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
Cushing Disease |
|
Increased body weight, Depression, Truncal obesity, Abdominal obesity, Emotional lability |
ORPHA:96253 |
Hellp Syndrome |
|
Pleural effusion, Increased body weight |
ORPHA:244242 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Emo... |
ORPHA:99889 |
Carney Complex |
|
Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |