Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Obesity |
|
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity |
OMIM:601665 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction, Obesity |
ORPHA:329249 |
Perry Syndrome |
|
Suicidal ideation, Apathy, Short stepped shuffling gait, Respiratory insufficiency, Anxiety, Disi... |
OMIM:168605 |
Carcinoma Of Esophagus |
|
Cough, Dysphagia, Weight loss, Obesity |
ORPHA:70482 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Urinary bladder sphincter dysfunction, Abnormal auditory evoked... |
ORPHA:320401 |
Pick Disease Of Brain |
|
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Emotional blunting, Dimi... |
OMIM:172700 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Irritability, Weight loss |
ORPHA:30925 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... |
OMIM:616648 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Increased resting energy expenditure, Obesity |
ORPHA:369873 |
Obsolete: Early-Onset Schizophrenia |
|
Emotional lability, Polyphagia, Suicidal ideation, Shyness, Abnormal emotion/affect behavior, Res... |
ORPHA:96369 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity |
ORPHA:411515 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Agitation, Self-injurious behavior, Aggressive behavior, Large for gestational age |
OMIM:616116 |
Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Aggressive behavior, Tr... |
ORPHA:98764 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity |
OMIM:309585 |
Spinocerebellar Ataxia 21 |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Apathy, Gait ataxia, Akinesia, Aggressive beh... |
OMIM:607454 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Tall stature, Obesity |
OMIM:618406 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Anxiety, Attention deficit hyperactivity disorder, Failure to thrive in infancy, Self-injurious b... |
OMIM:613670 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Neuromusc... |
ORPHA:240094 |
Congenital Myopathy 9A |
|
Akinesia, Obstructive sleep apnea, Obesity |
OMIM:618822 |
Central Diabetes Insipidus |
|
Polydipsia, Anxiety, Weight loss, Failure to thrive |
ORPHA:178029 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Irritability, Abnormal aggressive, impulsi... |
ORPHA:3077 |
Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait |
OMIM:301024 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Leptin Receptor Deficiency |
|
Emotional lability, Abnormal eating behavior, Polyphagia, Aggressive behavior, Obesity |
OMIM:614963 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Anxiety, Attention deficit hyperactivity disorder, Obesity |
OMIM:618725 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy |
OMIM:617519 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior, Obesity |
OMIM:616521 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Large for gestational age, Obesity |
OMIM:617119 |
Manganese Poisoning |
|
Emotional lability, Gait disturbance, Inappropriate laughter, Irritability, Akinesia, Aggressive ... |
ORPHA:306682 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Obesity, Polydipsia, Truncal obesity |
OMIM:615986 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Nephronophthisis-Like Nephropathy 2 |
|
Cough, Polydipsia, Bronchiectasis |
OMIM:619468 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Bulimia, Overweight, Obesity |
OMIM:614651 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Recurrent pneumonia, Obesity |
OMIM:614962 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight |
OMIM:620065 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity |
OMIM:613886 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Tall stature, Anxiety, Pica, Overweight |
OMIM:615032 |
Postencephalitic Parkinsonism |
|
Abnormal respiratory system physiology, Cough, Abnormal aggressive, impulsive or violent behavior... |
ORPHA:97349 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Hereditary Late-Onset Parkinson Disease |
|
Apathy, Agitation, Dysphagia, Weight loss, Akinesia, Low frustration tolerance, Shuffling gait, I... |
ORPHA:411602 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance, Happy demean... |
ORPHA:411511 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... |
OMIM:600501 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity |
OMIM:301013 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Ataxia, Dysphagia, Akinesia, Aggressive behavior |
OMIM:606693 |
Adiposis Dolorosa |
|
Anxiety, Obesity |
OMIM:103200 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive |
ORPHA:71526 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Obesity |
OMIM:240900 |
Atypical Juvenile Parkinsonism |
|
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait |
ORPHA:391411 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Irritability, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Irritability, Failure to thrive |
OMIM:304800 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight, Attention deficit hyperactivity disorder, Gait disturbance, Impulsivity |
ORPHA:589905 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Falls, Gait imbalance, Neuromuscular dysphagia, Akinesia, Impulsivity |
ORPHA:240071 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Anxiety, Aggressive behavior |
OMIM:300894 |
Pediatric-Onset Graves Disease |
|
Emotional lability, Polyphagia, Hyperactivity, Irritability, Failure to thrive, Polydipsia, Neona... |
ORPHA:525731 |
Luscan-Lumish Syndrome |
|
Polyphagia, Shyness, Anxiety, Overgrowth, Aggressive behavior, Obesity |
OMIM:616831 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalanc... |
ORPHA:98794 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Respiratory failure |
OMIM:619334 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased body weight |
ORPHA:890 |
Wagro Syndrome |
|
Emotional lability, Polyphagia, Impaired social interactions, Agitation, Anxiety, Low frustration... |
OMIM:612469 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Dysdiadochokinesis, Dysphagia, Gait ataxia, Akinesia, Shuffling gait |
ORPHA:247234 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal eating behavior, Hyperac... |
ORPHA:209905 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Emotional lability, Ataxia, Restlessness, Apnea, Spastic gait, Choreoathetosis, Shuffling gait, O... |
OMIM:300055 |
Non Rare In Europe: Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
East Syndrome |
|
Inability to walk, Difficulty walking, Ataxia, Salt craving, Polydipsia |
ORPHA:199343 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Respiratory failure |
OMIM:607598 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... |
ORPHA:52368 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Myofibrillar Myopathy 11 |
|
Dysphagia, Reduced forced vital capacity, Overweight |
OMIM:619178 |
Gaucher Disease, Perinatal Lethal |
|
Apathy, Apnea, Dysphagia, Respiratory distress, Akinesia, Decreased body weight |
OMIM:608013 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Agitation |
ORPHA:276608 |
Congenital Myopathy 12 |
|
Akinesia, Respiratory insufficiency due to muscle weakness, Small for gestational age |
OMIM:612540 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Self-mutilation, Shyness, Self-injurious behavior, Aggressive behavior,... |
ORPHA:293948 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Self-mutilation, Intermittent hyperventilation, Hyperactivity, Ataxia, Skin-picking, Low frustrat... |
ORPHA:163681 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Cystinosis |
|
Polydipsia, Gait disturbance, Failure to thrive |
ORPHA:213 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Supranuclear Palsy, Progressive, 2 |
|
Apathy, Falls, Irritability, Dysphagia, Gait imbalance, Akinesia |
OMIM:609454 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Akinesia, Choreoathetosis, Truncal ataxia, Failure to thrive |
OMIM:618249 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Epistaxis |
ORPHA:403 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
Corticobasal Syndrome |
|
Akinesia, Gait disturbance |
ORPHA:454887 |
Angelman Syndrome |
|
Hyperactivity, Ataxia, Progressive gait ataxia, Paroxysmal bursts of laughter, Happy demeanor, Br... |
OMIM:105830 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Whipple Disease |
|
Ataxia, Respiratory insufficiency, Cough, Cachexia, Polydipsia |
ORPHA:3452 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Epistaxis, Pulmonary arterial hypertension, Athetosis |
ORPHA:369929 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Attention deficit hyperactivity disorder, Increased body weight |
OMIM:274300 |
13Q12.3 Microdeletion Syndrome |
|
Self-mutilation, Hyperactivity, Failure to thrive, Obstructive sleep apnea, Obesity |
ORPHA:412035 |
Fetal Akinesia Deformation Sequence |
|
Akinesia, Respiratory insufficiency |
ORPHA:994 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Angelman Syndrome |
|
Polyphagia, Inability to walk, Hyperactivity, Ataxia, Inappropriate laughter, Anxiety, Self-injur... |
ORPHA:72 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Smith-Magenis Syndrome |
|
Head-banging, Self-mutilation, Hyperactivity, Increased body weight |
OMIM:182290 |
Supranuclear Palsy, Progressive, 1 |
|
Apathy, Falls, Irritability, Dysphagia, Gait imbalance, Akinesia |
OMIM:601104 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Obesity |
OMIM:257500 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Small for gestational age, Failure to thrive |
OMIM:619147 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Dyspnea, Failure to thrive, Tachypnea |
OMIM:239200 |
Adult Krabbe Disease |
|
EEG abnormality, Urinary incontinence, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Aceruloplasminemia |
|
Limb ataxia, Apathy, Ataxia, Gait ataxia, Akinesia |
ORPHA:48818 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Epistaxis |
ORPHA:251274 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Emotional lability, Polyphagia, Impaired social interactions, Anxiety, Cardiorespiratory arrest, ... |
ORPHA:293987 |
Insulinoma |
|
Polyphagia, Anxiety, Increased body weight |
ORPHA:97279 |
Autosomal Dominant Cerebellar Ataxia |
|
Gait disturbance, Progressive cerebellar ataxia, Pseudobulbar paralysis, Akinesia, Choreoathetosis |
ORPHA:99 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity |
ORPHA:3157 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary retention, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, U... |
ORPHA:99027 |
Childhood Absence Epilepsy |
|
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Hyperventilation |
ORPHA:64280 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Polyphagia, Obesity |
ORPHA:179494 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Urinary incontinence, Decreased nerve conduction velocity, O... |
ORPHA:101085 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive |
ORPHA:320 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polydipsia, Ataxia, Dysdiadochokinesis |
OMIM:612780 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Aggressive behavior, Increased body weight |
OMIM:300860 |
Wilson Disease |
|
Difficulty walking, Failure to thrive, Increased body weight, Aggressive behavior, Weight loss |
ORPHA:905 |
Erdheim-Chester Disease |
|
Dyspnea, Ataxia, Cough, Polydipsia, Pleural effusion, Weight loss |
ORPHA:35687 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Epistaxis |
ORPHA:231580 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive |
ORPHA:223 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Gitelman Syndrome |
|
Salt craving, Polydipsia, Ataxia, Failure to thrive |
OMIM:263800 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Emotional lability, Gait disturbance, Inability to walk, Ataxia, Overweight, Dysphagia, Obesity |
ORPHA:2822 |
Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Cough, Respiratory distress, Dysphagia, Polydipsia, Weight loss |
ORPHA:537 |
Cockayne Syndrome Type 1 |
|
Proteinuria, Absent brainstem auditory responses, Renal insufficiency, Hearing impairment, Abnorm... |
ORPHA:90321 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Trisomy 10P |
|
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Multiple renal cy... |
ORPHA:171929 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Senior-Boichis Syndrome |
|
Suicidal ideation, Agitation, Attention deficit hyperactivity disorder, Polydipsia, Aggressive be... |
ORPHA:84081 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Impaired oropharyngeal swallow response, Small for gestational age, Inability to walk, Decreased ... |
ORPHA:404454 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Large for gestational age, Agitation |
ORPHA:263455 |
Dpagt1-Cdg |
|
Head-banging, Inability to walk, Ataxia, Failure to thrive, Akinesia, Emotional blunting, Aggress... |
ORPHA:86309 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Polyphagia, Central sleep apnea, Failure to thrive, Sleep apnea, Obstructive sleep apnea, Skin-pi... |
ORPHA:398069 |
Wolfram Syndrome |
|
Respiratory insufficiency, Polydipsia, Central apnea, Ataxia |
ORPHA:3463 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... |
OMIM:609136 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Hyperactivity, Ataxia, Dysphagia, Akinesia, Choreoathetosis |
OMIM:234200 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Neonatal respiratory distress, Restrictive ventilatory defect |
OMIM:618947 |
Sotos Syndrome |
|
Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Increased body weight, Aggres... |
OMIM:117550 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Increased body weight |
OMIM:615830 |
Joubert Syndrome 8 |
|
Obesity, Ataxia, Hyperventilation |
OMIM:612291 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Oligomeganephronia |
|
Polydipsia, Small for gestational age |
ORPHA:2260 |
Adrenocortical Carcinoma |
|
Anxiety, Irritability, Panic attack, Increased body weight, Weight loss |
ORPHA:1501 |
Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses |
ORPHA:79330 |
Cockayne Syndrome B |
|
Proteinuria, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decreased nerve conducti... |
OMIM:133540 |
Cockayne Syndrome A |
|
Proteinuria, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decreased nerve conducti... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... |
ORPHA:909 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Arima Syndrome |
|
Polydipsia, Dyspnea, Ataxia, Tachypnea |
OMIM:243910 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive |
OMIM:248250 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411629 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Polydipsia, Failure to thrive |
ORPHA:18 |
African Trypanosomiasis |
|
Gait disturbance, Apathy, Difficulty walking, Anxiety, Irritability, Akinesia, Aggressive behavio... |
ORPHA:3385 |
Parathyroid Carcinoma |
|
Dysphagia, Polydipsia, Weight loss |
ORPHA:143 |
Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Gitelman Syndrome |
|
Respiratory distress, Polydipsia, Salt craving, Failure to thrive |
ORPHA:358 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Dysphagia, Polydipsia, Oral-pharyngeal dysphagia, Weight loss |
OMIM:219800 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Emotional lability, Abdominal obesity, Increased body weight |
ORPHA:189427 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411634 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Failure to thrive |
OMIM:602522 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Emotional lability, Abdominal obesity, Increased body weight |
ORPHA:189439 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia |
ORPHA:99880 |
Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Hypoventilation, Polydipsia, Recurrent pneumonia, Respiratory failure |
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, Small for gestational age, Failure to thrive |
OMIM:241200 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Pneumonia, Increased body weight, Decreased body weight, Weight loss |
ORPHA:2298 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
Cushing Disease |
|
Emotional lability, Suicidal ideation, Truncal obesity, Panic attack, Increased body weight, Abdo... |
ORPHA:96253 |
Hellp Syndrome |
|
Pleural effusion, Increased body weight |
ORPHA:244242 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Emotional lability, Suicidal ideation, Anxiety, Truncal obesity, Panic attack, Increased body wei... |
ORPHA:99889 |
Carney Complex |
|
Tall stature, Abdominal obesity, Increased body weight |
ORPHA:1359 |