Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Dehydration |
OMIM:601410 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De... |
ORPHA:99886 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Increased serum serotonin |
ORPHA:85288 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Precocious puberty, Dysphagia,... |
ORPHA:280195 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... |
OMIM:610600 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior |
OMIM:614970 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Dehydration |
ORPHA:83620 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620125 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia |
ORPHA:98764 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia |
OMIM:617562 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... |
OMIM:177735 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Dehydration |
OMIM:143880 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration |
OMIM:264350 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Ravine Syndrome |
|
Anorexia, Abnormal brainstem morphology, Ataxia, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Dehydration, Elevated serum 11-deoxycortisol, Increase... |
ORPHA:556030 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... |
ORPHA:98818 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Dehydration |
ORPHA:178029 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Dehydration |
ORPHA:33355 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... |
OMIM:609583 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level, Dehydration |
OMIM:203400 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... |
ORPHA:240094 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia, Exencephaly |
OMIM:614464 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly |
OMIM:614120 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:611560 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Death in childhood |
OMIM:214150 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Familial Renal Glucosuria |
|
Abnormal circulating insulin concentration, Dehydration |
ORPHA:69076 |
Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Adrenal insuffici... |
ORPHA:43 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... |
OMIM:214700 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:614465 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldosteronism, Increase... |
ORPHA:171876 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
Joubert Syndrome 6 |
|
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... |
OMIM:610688 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Gait disturbance, Akinesia |
ORPHA:454887 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Dehydration, Delayed puberty, Type I diabetes mellitus, Hypothyro... |
ORPHA:213 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu... |
OMIM:608747 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hyp... |
ORPHA:449291 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus |
OMIM:619111 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Death in infancy, Dehydration, Oligohydramnios |
OMIM:208085 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ab... |
ORPHA:206448 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons, Edema |
OMIM:253310 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Neona... |
OMIM:620014 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Precocious puberty, Inability to walk, Elevated circulating thyroid... |
ORPHA:356961 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Propionic Acidemia |
|
Dehydration |
OMIM:606054 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia |
OMIM:618161 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Dehydration, Central hypothyroidism, Ascites, Hypot... |
ORPHA:1667 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Vipoma |
|
Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... |
ORPHA:97282 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on MRI, Abnormality of t... |
ORPHA:220497 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Secondary Short Bowel Syndrome |
|
Dehydration, Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Akinesia |
OMIM:225790 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI |
OMIM:611134 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Mental deterioration, Low frustra... |
ORPHA:163681 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Kufor-Rakeb Syndrome |
|
Akinesia, Ataxia, Gait disturbance, Distal sensory impairment |
OMIM:606693 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia |
OMIM:608629 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:614815 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Molar tooth sign on MRI, Abnormality of the hypothalamus-pi... |
ORPHA:2318 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait |
ORPHA:247234 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on MRI, Abnormality of t... |
ORPHA:220493 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... |
OMIM:607364 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, Molar tooth sign ... |
OMIM:614424 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Ina... |
ORPHA:139396 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia |
OMIM:612291 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Hypertonic dehydration |
OMIM:304800 |
Aceruloplasminemia |
|
Diabetes mellitus, Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia |
ORPHA:48818 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Hypertonic dehydration |
OMIM:125800 |
Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Joubert Syndrome 1 |
|
Hyperactivity, Ataxia, Brainstem dysplasia, Aggressive behavior, Occipital myelomeningocele, Hypo... |
OMIM:213300 |
Joubert Syndrome 2 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Molar too... |
OMIM:608091 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Abnormal bra... |
ORPHA:8 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Dehydration |
ORPHA:230 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbra... |
ORPHA:68 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI, Occipital encephalocele, Anencephaly |
OMIM:614175 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia |
OMIM:617563 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Beta-Ketothiolase Deficiency |
|
Edema, Dehydration |
ORPHA:134 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Cholera |
|
Miscarriage, Dehydration |
ORPHA:173 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Manganese Poisoning |
|
Gait disturbance, Akinesia |
ORPHA:306682 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
OMIM:619476 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia |
OMIM:300894 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Self-mutilation, Abnormal pituitary gland morphology, Abnormal midbrain morphology |
ORPHA:314621 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Falls, Gait imbalance, Akinesia |
ORPHA:240071 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Postencephalitic Parkinsonism |
|
Paresthesia, Akinesia |
ORPHA:97349 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hydrops fetalis, Dehydration, Death in childhood |
OMIM:557000 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Mania, Irr... |
ORPHA:247585 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Choreoathetosis, Ab... |
ORPHA:79139 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... |
OMIM:610217 |
Coach Syndrome 1 |
|
Molar tooth sign on MRI, Occipital encephalocele, Encephalocele, Ataxia |
OMIM:216360 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Dehydration |
ORPHA:20 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Co... |
ORPHA:93256 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI |
OMIM:619185 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Akinesia |
OMIM:619147 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Ataxia, Short attent... |
ORPHA:209905 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Osteootohepatoenteric Syndrome |
|
Dehydration |
OMIM:619377 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Dehydration, Oligohydramnios |
ORPHA:96191 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Hypernatremic dehydration, Polyhydramnios |
ORPHA:223 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Ataxia, Aggressive behavior, Molar tooth sign on MRI, Thickened superior... |
OMIM:610188 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Hyperparathyroidism, Dehydration, Abnormal circulating calcium-phosphate regula... |
ORPHA:534 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Abnormal substantia nigra morphology, Ataxia, Gait ataxia, Bradykinesia, Compulsive behaviors, Hy... |
ORPHA:98808 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab... |
ORPHA:293987 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Hyd... |
ORPHA:699 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... |
ORPHA:89938 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Dehydration |
ORPHA:411629 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Dehydration |
ORPHA:99885 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldo... |
OMIM:601678 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration |
ORPHA:79282 |
Lysosomal Acid Lipase Deficiency |
|
Ascites, Primary adrenal insufficiency, Adrenal calcification, Dehydration |
ORPHA:275761 |
Shigellosis |
|
Dehydration |
ORPHA:810 |
Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
Arima Syndrome |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital meni... |
OMIM:243910 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... |
OMIM:616546 |
Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:619562 |
Microsporidiosis |
|
Abnormality of the parathyroid gland, Adrenocortical abnormality, Thyroiditis, Dehydration |
ORPHA:2552 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... |
OMIM:241200 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Encephalocele, Stillbirth, Patent ductus arteriosus |
OMIM:616300 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Dehydration |
ORPHA:411634 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia |
OMIM:608013 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Dehydration, Primary hypothyroidism, Delayed puberty, Male hypogonadism |
OMIM:219800 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Abnormality of the endocrine system, Myelopathy, Impaired ... |
ORPHA:3385 |
Argininemia |
|
Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... |
OMIM:234200 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia |
ORPHA:411602 |
Distal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:18 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Molar tooth sign on MRI, Occipital encephalocele, Elongated superior cerebellar peduncle, Meningo... |
ORPHA:397715 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Ataxia, Gait disturbance |
ORPHA:2754 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Aggressive behavior |
OMIM:616202 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:619306 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Edema, Dehydration |
ORPHA:79404 |
Supranuclear Palsy, Progressive, 2 |
|
Falls, Gait imbalance, Akinesia |
OMIM:609454 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly |
OMIM:601374 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Occipital meningocele |
OMIM:277170 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Marburg Hemorrhagic Fever |
|
Dehydration |
ORPHA:99826 |
Supranuclear Palsy, Progressive, 1 |
|
Falls, Gait imbalance, Akinesia |
OMIM:601104 |
Wilson Disease |
|
Hypoparathyroidism, Dysphagia, Face of the giant panda sign |
OMIM:277900 |
Proximal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:47159 |
Dpagt1-Cdg |
|
Inability to walk, Ataxia, Akinesia |
ORPHA:86309 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Hydrocephalus, Patent ductus arteriosus, Anencephaly... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Small pituitary gland |
OMIM:619479 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Occipital encephalocele, Patent ductus arteriosus, Holoprosencephaly |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Patent ductus arteriosus |
ORPHA:434179 |