Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Dehydration |
OMIM:601410 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Death in infancy |
OMIM:251850 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Dehydration, Matern... |
ORPHA:99886 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity |
ORPHA:85288 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Dehydration, Edema |
OMIM:616069 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Increased circulating 18-hydroxycortisone l... |
OMIM:610600 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele, Dy... |
ORPHA:280195 |
Enteric Anendocrinosis |
|
Dehydration, Type I diabetes mellitus |
ORPHA:83620 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity |
OMIM:619970 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:604317 |
Joubert Syndrome 27 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617120 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia |
ORPHA:98764 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Joubert Syndrome 33 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617767 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:309548 |
Paragangliomas 3 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Elevated circul... |
OMIM:605373 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Hyperactivity, Decreased serum insulin-like gr... |
ORPHA:85327 |
Joubert Syndrome 25 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:616781 |
Paragangliomas 1 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Glomus tympanic... |
OMIM:168000 |
Fraxe Intellectual Disability |
|
Impulsivity, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Meckel Syndrome 13 |
|
Ataxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Dehydration, Hyperaldosteronism, Increased circulating reni... |
OMIM:177735 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Attention deficit hyperactivity disorder, Impaired sensitivity to ... |
OMIM:188570 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Dehydration, Elevated serum 11-deoxycortisol, Increased ... |
ORPHA:556030 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity |
OMIM:617113 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Dehydration, Hyperaldosteronism |
OMIM:264350 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Dehydration, Death in adolescence, Type I diabetes mellitus |
OMIM:560000 |
Reticular Dysgenesis |
|
Dehydration, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Hyperactivity, Impulsivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... |
ORPHA:248111 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity, Hypothyroidism |
OMIM:619927 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Increased circulating renin level |
OMIM:203400 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema |
ORPHA:103910 |
Central Diabetes Insipidus |
|
Dehydration, Diabetes insipidus |
ORPHA:178029 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:609425 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI |
OMIM:614120 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior |
ORPHA:382 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
X-Linked Adrenoleukodystrophy |
|
Adrenal insufficiency, Inappropriate sexual behavior, Hyperactivity, Abnormality of adrenal physi... |
ORPHA:43 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Joubert Syndrome 7 |
|
Ataxia, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Death in childhood, Dehydration |
OMIM:214150 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Hydranencephaly |
OMIM:225790 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Polyhydramnios, Dehydration, Hyperaldosteronism |
OMIM:214700 |
Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
Joubert Syndrome 15 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:614464 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Ataxia, Hyperactivity |
OMIM:615924 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Joubert Syndrome 28 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:271980 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios, Neonatal death |
OMIM:263200 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:614465 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration, Abnormal circulating aldosterone, Increased circulating renin level, Glucocortocoid-... |
ORPHA:171876 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Dehydration, Hypothyroidism, Type I diabetes mellitus, Delayed pu... |
ORPHA:213 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal pons morphology, Ataxia, Abnormal medulla oblongata morphology, Gait d... |
ORPHA:206448 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Corticobasal Syndrome |
|
Gait disturbance, Somatic sensory dysfunction, Akinesia |
ORPHA:454887 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Dehydration, Oligohydramnios, Death in infancy |
OMIM:208085 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Spinocerebellar Ataxia 21 |
|
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
OMIM:607454 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Coach Syndrome 3 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:619113 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Joubert Syndrome 32 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617757 |
Cln5 Disease |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... |
ORPHA:228360 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
Female Restricted Epilepsy With Intellectual Disability |
|
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggre... |
ORPHA:485350 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Aggressive behavior, Hyperactivity, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait |
OMIM:617865 |
Vipoma |
|
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating gr... |
ORPHA:97282 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperinsulinemia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairm... |
ORPHA:363400 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death, Edema |
OMIM:253310 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Joubert Syndrome 17 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:614615 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyhydramnios, Lymphedema, Feta... |
OMIM:620014 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI |
OMIM:618161 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Ataxia, Thickened superior cerebellar peduncle, Molar too... |
OMIM:610688 |
Wolcott-Rallison Syndrome |
|
Dehydration, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Ascites, Central hypot... |
ORPHA:1667 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Hyperactivity, Cognitive impairment, Memory impairment, Attention deficit hype... |
ORPHA:1929 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Encephal... |
ORPHA:220497 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Dehydration, Hyperaldosteronism, Increased circulating reni... |
OMIM:607364 |
Secondary Short Bowel Syndrome |
|
Primary hypothyroidism, Dehydration, Central hypothyroidism |
ORPHA:95427 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior |
OMIM:300958 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior |
ORPHA:500180 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Akinesia |
OMIM:618822 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Self-injurious behavior, Hyperthyroidism, Depression, Anxiety, Hypothyroidism, Att... |
ORPHA:449291 |
Propionic Acidemia |
|
Dehydration |
OMIM:606054 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... |
ORPHA:90794 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Hyperactivity, Aggressive behavior |
OMIM:300558 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI |
OMIM:608629 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:289548 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Molar tooth sign on MRI |
OMIM:611134 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:168558 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia |
OMIM:601160 |
Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Encephalocele, Molar tooth... |
ORPHA:2318 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Akinesia, Ataxia, Distal sensory impairment |
OMIM:606693 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Thymoma, Pituitary growth hormone cell adenoma, Intestinal carcinoid, ... |
ORPHA:652 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Encephal... |
ORPHA:220493 |
Slc35A2-Cdg |
|
Precocious puberty, Inability to walk, Atrophy/Degeneration affecting the brainstem, Elevated cir... |
ORPHA:356961 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Molar tooth sign on MRI |
OMIM:614175 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
Joubert Syndrome 8 |
|
Ataxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Diabetes insipidus |
OMIM:304800 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia |
ORPHA:247234 |
Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Nephrogenic diabetes insipidus |
OMIM:125800 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Limb ataxia, Chorea, Gait ataxia, Diabetes mellitus |
ORPHA:48818 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Precocious puberty, Hyperactivity, Progressive language deterioration, Self-mutilation, M... |
ORPHA:163681 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Hyperactivity, Mental deterioration, Anxiety, Gait disturbance, Motor ... |
ORPHA:168491 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter |
OMIM:614104 |
Gomez-Lopez-Hernandez Syndrome |
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Ataxia, Self-injurious behavior, Hyperactivity, Decreased response to growth hormone stimulation ... |
OMIM:601853 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI |
OMIM:277170 |
Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Hyperactivity, Self-biting, Aggressive behavior, Hypogonadism |
ORPHA:3306 |
Autosomal Dominant Cerebellar Ataxia |
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Akinesia, Progressive cerebellar ataxia, Impaired vibratory sensation, Chorea, Gait disturbance, ... |
ORPHA:99 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Ataxia, Encephalocele, Thickened superior ... |
OMIM:608091 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration, Hyperinsulinemia |
ORPHA:230 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Molar tooth sign on MRI |
OMIM:617563 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Cholera |
|
Dehydration, Miscarriage |
ORPHA:173 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... |
OMIM:103050 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Impulsivity, Mental deterioration, Gait disturbance, Psychomotor deteriora... |
ORPHA:35069 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Hyperactivity |
OMIM:300143 |
Beta-Ketothiolase Deficiency |
|
Dehydration, Edema |
ORPHA:134 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
X-Linked Cerebral Adrenoleukodystrophy |
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Ataxia, Inability to walk, Hyperactivity, Dysmetria, Decreased circulating cortisol level, Mental... |
ORPHA:139396 |
Pediatric-Onset Graves Disease |
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Graves disease, Hyperactivity, Increased circulating free T3, Increased circulating T4 concentrat... |
ORPHA:525731 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Joubert Syndrome 38 |
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Decreased response to growth hormone stimulation test, Small pituitary gland, Ectopic posterior p... |
OMIM:619476 |
47,Xyy Syndrome |
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Increased serum testosterone level, Hyperactivity, Impulsivity, Attention deficit hyperactivity d... |
ORPHA:8 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal pons morphology, Ataxia, Abnormal brainstem MRI signal intensity, Myocardial necrosis, A... |
ORPHA:68 |
Manganese Poisoning |
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Gait disturbance, Akinesia |
ORPHA:306682 |
Pearson Marrow-Pancreas Syndrome |
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Death in childhood, Dehydration, Hydrops fetalis, Type I diabetes mellitus |
OMIM:557000 |
Myopathy, Congenital, Compton-North |
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Akinesia |
OMIM:612540 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Coach Syndrome 1 |
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Encephalocele, Ataxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:216360 |
Perry Syndrome |
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Akinesia, Short stepped shuffling gait |
OMIM:168605 |
Postencephalitic Parkinsonism |
|
Paresthesia, Akinesia |
ORPHA:97349 |
Classic Progressive Supranuclear Palsy Syndrome |
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Gait imbalance, Akinesia, Falls |
ORPHA:240071 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Attention deficit hyperactivity disorder, Anxiety, Hyperactivity |
OMIM:617600 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI |
OMIM:619185 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dehydration, Edema |
ORPHA:20 |
Hyperthyroidism, Nonautoimmune |
|
Goiter, Hyperactivity, Thyroid hyperplasia, Hyperthyroidism |
OMIM:609152 |
Osteootohepatoenteric Syndrome |
|
Dehydration |
OMIM:619377 |
Netherton Syndrome |
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Angioedema, Hypernatremic dehydration |
OMIM:256500 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Dehydration, Oligohydramnios |
ORPHA:96191 |
X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Occ... |
OMIM:213300 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Akinesia |
OMIM:619147 |
Duplication Of The Pituitary Gland |
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Abnormality of the pituitary gland, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
Japanese Encephalitis |
|
Abnormal pons morphology, Inappropriate antidiuretic hormone secretion, Abnormal substantia nigra... |
ORPHA:79139 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Polyhydramnios, Hypernatremic dehydration |
ORPHA:223 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal brainstem morphology, Hypothyroidism, Gait disturbance,... |
ORPHA:93256 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin level, Polyhydramn... |
ORPHA:89938 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Decreased response to growth hormone stimulation test,... |
ORPHA:699 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Dehydration |
ORPHA:99885 |
Von Hippel-Lindau Disease |
|
Anxiety, Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancr... |
ORPHA:892 |
Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Abnormal calcium-phosphate regulating hormone level, Dehydration, Death in infanc... |
ORPHA:534 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin level, Polyhydramn... |
OMIM:601678 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Gait ataxia, Emo... |
OMIM:610217 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dehydration, Hydrops fetalis |
ORPHA:79282 |
Infantile Nephropathic Cystinosis |
|
Dehydration, Abnormality of thyroid physiology |
ORPHA:411629 |
Arima Syndrome |
|
Occipital meningocele, Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the br... |
OMIM:243910 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Primary adrenal insufficiency, Dehydration, Ascites |
ORPHA:275761 |
Shigellosis |
|
Dehydration |
ORPHA:810 |
Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... |
ORPHA:99819 |
Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... |
ORPHA:424 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased response to growth hormone stimulat... |
ORPHA:293987 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin level, Polyhydramn... |
OMIM:241200 |
Microsporidiosis |
|
Dehydration, Abnormality of the parathyroid gland, Adrenocortical abnormality, Thyroiditis |
ORPHA:2552 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI |
OMIM:616546 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem |
ORPHA:444072 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Dehydration |
ORPHA:411634 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
African Trypanosomiasis |
|
Akinesia, Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-ang... |
ORPHA:3385 |
Cystinosis, Nephropathic |
|
Dehydration, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus |
OMIM:219800 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia |
OMIM:608013 |
Distal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:18 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Encephalocele, Molar tooth sign on MRI |
OMIM:616300 |
Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Ataxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:610188 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia |
ORPHA:411602 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Occipital encephalocele, Meningo... |
ORPHA:397715 |
Orofaciodigital Syndrome Type 6 |
|
Gait disturbance, Ataxia, Molar tooth sign on MRI |
ORPHA:2754 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:619306 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dehydration, Edema |
ORPHA:79404 |
Argininemia |
|
Spastic gait, Hyperactivity, Irritability |
OMIM:207800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Akinesia, Ataxia, Choreoathetosis |
OMIM:234200 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Akinesia, Falls |
OMIM:609454 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Absent mesencephalon |
OMIM:601374 |
Marburg Hemorrhagic Fever |
|
Dehydration |
ORPHA:99826 |
Proximal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:47159 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Hyperactivity, Self-injurious behavior, Parathyroid adenoma, Impulsivity, Carc... |
ORPHA:805 |
Wilson Disease |
|
Hypoparathyroidism, Face of the giant panda sign, Dysphagia |
OMIM:277900 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain |
OMIM:616202 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Anencephaly, Adrenal hypoplasia, Patent ductus arteriosus, Occipital encephalocele... |
OMIM:249000 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Akinesia, Falls |
OMIM:601104 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Small pituitary gland |
OMIM:619479 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Pseudohypoparathyroidism, Decreased response to growth hormone stimulation test, E... |
ORPHA:280651 |
Choreoacanthocytosis |
|
Bradyphrenia, Loss of ambulation, Apathy, Hyperactivity, Self-injurious behavior, Irritability, H... |
ORPHA:2388 |
Dpagt1-Cdg |
|
Akinesia, Ataxia, Inability to walk |
ORPHA:86309 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Patent ductus arteriosus, Occipital encephalocele, Holoprosencephaly |
OMIM:615948 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Molar tooth sign on MRI |
ORPHA:434179 |