Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:608631 |
Autism |
|
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:607373 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Aggressive behavior, Reduced social reciprocity |
OMIM:618103 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Reduced social reciprocity |
OMIM:606053 |
Chronic Hiccup |
|
Depression, Abnormal eating behavior, Dehydration |
ORPHA:396 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... |
OMIM:608636 |
Spinocerebellar Ataxia Type 27 |
|
Depression, Memory impairment, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive... |
ORPHA:98764 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Manganese Poisoning |
|
Memory impairment, Depression, Confusion, Inappropriate laughter, Akinesia, Emotional lability, I... |
ORPHA:306682 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Reduced social reciprocity |
ORPHA:329249 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... |
ORPHA:168782 |
Perry Syndrome |
|
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Disinhibition, Fronto... |
OMIM:168605 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... |
ORPHA:240094 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Central Diabetes Insipidus |
|
Depression, Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing |
ORPHA:397933 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Spinocerebellar Ataxia 21 |
|
Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme... |
OMIM:607454 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Combined Malonic And Methylmalonic Acidemia |
|
Memory impairment, Dehydration |
ORPHA:289504 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:608049 |
Familial Cold Urticaria |
|
Polydipsia, Dysesthesia, Dehydration |
ORPHA:47045 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... |
ORPHA:101039 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Dehydration |
OMIM:618958 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar ataxia |
ORPHA:98773 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Dehydration, Anorexia |
ORPHA:79312 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Shuffling gait, Depression, Akinesia, Low frustration tolerance, Impulsivit... |
ORPHA:411602 |
Hsd10 Disease |
|
Short attention span, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dementia, Mental deterioration, Akinesia, Aggressive behavior |
OMIM:300894 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Depression, Memory impairment, Narcolepsy, Ataxia, Dementia |
OMIM:604121 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... |
ORPHA:1020 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Dehydration, Ataxia |
ORPHA:27 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Progressive neurologic deterioration, Dehydration |
OMIM:214150 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Social and occupa... |
ORPHA:240071 |
Corticobasal Syndrome |
|
Dementia, Akinesia, Memory impairment, Gait disturbance |
ORPHA:454887 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so... |
ORPHA:444002 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Carnitine Deficiency, Systemic Primary |
|
Confusion, Dehydration |
OMIM:212140 |
Alternating Hemiplegia Of Childhood |
|
Oral-pharyngeal dysphagia, Dehydration, Anorexia, Chorea, Emotional lability, Aggressive behavior... |
ORPHA:2131 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Memory impairment, Akinesia, Gait ataxia, Ataxia, Dementia, Dysphagia, Dysdiadoch... |
ORPHA:247234 |
Kufor-Rakeb Syndrome |
|
Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Dementia, Dysphagia |
OMIM:606693 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia |
ORPHA:391411 |
Postencephalitic Parkinsonism |
|
Akinesia, Depression, Dysphagia, Abnormal aggressive, impulsive or violent behavior |
ORPHA:97349 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema |
ORPHA:103910 |
Harlequin Ichthyosis |
|
Self-injurious behavior, Dehydration |
ORPHA:457 |
Lamellar Ichthyosis |
|
Cognitive impairment, Dehydration |
ORPHA:313 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Ataxia |
OMIM:560000 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Dehydration, Agitation, Oral aversion, Anorexia, Edema |
ORPHA:134 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... |
OMIM:234200 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration, Irritability |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration, Irritability |
OMIM:304800 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Cystinosis |
|
Polydipsia, Motor stereotypy, Dehydration |
ORPHA:213 |
Supranuclear Palsy, Progressive, 2 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Irritability, Dysphagia |
OMIM:609454 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia |
OMIM:619738 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Congenital Tufting Enteropathy |
|
Dehydration, Irritability |
ORPHA:92050 |
Pitt-Hopkins-Like Syndrome 1 |
|
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... |
OMIM:610042 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Progressive neurologic deterioration, Dehydration |
OMIM:615453 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... |
ORPHA:100924 |
Propionic Acidemia |
|
Dehydration |
OMIM:606054 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Choreoathetosis, Dehydration, Ataxia |
OMIM:616271 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... |
ORPHA:449291 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Dementia, Mental deterioration, Akinesia |
OMIM:616840 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Memory impairment, Depression, Narcolepsy, Ataxia |
ORPHA:314404 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Irritability, Dysphagia |
OMIM:601104 |
Secondary Short Bowel Syndrome |
|
Polyphagia, Dehydration |
ORPHA:95427 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:64280 |
Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior |
ORPHA:530983 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Oligohydramnios, Dehydration |
OMIM:208085 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Dehydration, Edema, Ataxia |
ORPHA:20 |
Aceruloplasminemia |
|
Memory impairment, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Ataxia |
ORPHA:48818 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Mental deterioration, Memory impairment, Dementia, Ataxia, Delirium, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Young-Onset Parkinson Disease |
|
Depression, Frontal lobe dementia, Short attention span, Restless legs, Reduced social reciprocit... |
ORPHA:2828 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Cholera |
|
Dehydration, Irritability |
ORPHA:173 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
Neuroleptic Malignant Syndrome |
|
Chorea, Agitation, Delirium, Dysphagia, Dehydration |
ORPHA:94093 |
Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Progressive psychomotor deterioration, Chorea, Short attention spa... |
ORPHA:309271 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Depression, Narcolepsy, Low frustrati... |
ORPHA:646 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Abnormal temper tantrums, Recurrent hand flapping, Anorexia, Compulsive behaviors, Dehydr... |
ORPHA:3008 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration |
ORPHA:1667 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Oligohydramnios, Dehydration, Neonatal death |
OMIM:263200 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Cognitive impairment, Dehydration |
ORPHA:411629 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Akinesia, Choreoathetosis |
OMIM:618249 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... |
ORPHA:309263 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Dehydration |
OMIM:246450 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Gaucher Disease, Perinatal Lethal |
|
Progressive neurologic deterioration, Akinesia, Dysphagia |
OMIM:608013 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration, Irritability |
ORPHA:90038 |
Lysosomal Acid Lipase Deficiency |
|
Ascites, Psychomotor deterioration, Cognitive impairment, Dehydration |
ORPHA:275761 |
Shigellosis |
|
Dehydration, Anorexia |
ORPHA:810 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Depression, Joint swelling, Attention deficit hyperactivity disorder, Co... |
ORPHA:534 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia |
ORPHA:223 |
Osteootohepatoenteric Syndrome |
|
Dehydration |
OMIM:619377 |
Dpagt1-Cdg |
|
Head-banging, Inability to walk, Stereotypical body rocking, Akinesia, Aggressive behavior, Emoti... |
ORPHA:86309 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration, Anorexia |
OMIM:557000 |
Pearson Syndrome |
|
Corneal stromal edema, Ataxia, Hydrops fetalis, Dysphagia, Dehydration |
ORPHA:699 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Emotional lability, Dehydration |
ORPHA:89938 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration, Ataxia |
ORPHA:99885 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Progressive gait ataxia, Gait ataxia, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Marburg Hemorrhagic Fever |
|
Confusion, Aggressive behavior, Anorexia, Dysesthesia, Dehydration |
ORPHA:99826 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Multiple Endocrine Neoplasia Type 1 |
|
Depression, Confusion, Short attention span, Anorexia, Dehydration |
ORPHA:652 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Dysmetria, Aggressive behavior, Ataxia, Palpebral edema, Nonprogressive cerebe... |
ORPHA:314647 |
Vipoma |
|
Ascites, Dehydration, Anorexia |
ORPHA:97282 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:18 |
Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Polydipsia, Dysphagia, Dehydration |
OMIM:219800 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Narcolepsy, Emotional lability, Reduced social r... |
ORPHA:293987 |
48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... |
ORPHA:96263 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Paresthesia, Polydipsia, Dehydration |
OMIM:241200 |
Microsporidiosis |
|
Dehydration, Anorexia |
ORPHA:2552 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
African Trypanosomiasis |
|
Difficulty walking, Narcolepsy, Akinesia, Irritability, Aggressive behavior, Gait disturbance, De... |
ORPHA:3385 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Dehydration |
ORPHA:96191 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Paresthesia, Dehydration |
OMIM:601678 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Oligohydramnios, Reduced social reciprocity, Skin-picking... |
ORPHA:177907 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dehydration, Edema |
ORPHA:79404 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:47159 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Fg Syndrome Type 1 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:93932 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:90794 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... |
ORPHA:805 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability |
ORPHA:1675 |
Mend Syndrome |
|
Aggressive behavior, Hyperactivity, Abnormal social behavior |
ORPHA:401973 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... |
ORPHA:363958 |
Williams Syndrome |
|
Periorbital edema, Depression, Increased nuchal translucency, Dysmetria, Overfriendliness, Attent... |
ORPHA:904 |