Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia |
ORPHA:210571 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia |
ORPHA:228169 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy |
OMIM:618683 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Dystonia 16 |
|
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Retr... |
OMIM:612067 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder |
OMIM:618878 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia |
OMIM:128235 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... |
OMIM:616710 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykin... |
ORPHA:240103 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... |
OMIM:128230 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... |
OMIM:618317 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia |
ORPHA:71517 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:600116 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:605909 |
Huntington Disease |
|
Clonus, Involuntary movements, Aggressive behavior, Oral-pharyngeal dysphagia, Rigidity, Chorea, ... |
ORPHA:399 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia |
OMIM:609161 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cere... |
ORPHA:248111 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:607136 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... |
OMIM:617225 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus |
OMIM:619862 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... |
ORPHA:100984 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hypertonia, Agitation, Dysp... |
OMIM:617435 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorder, Limb hypertonia |
OMIM:617384 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... |
OMIM:615528 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... |
OMIM:300423 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia |
OMIM:618824 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
ORPHA:306692 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Compulsive behaviors, Spastic paraparesis, Motor tics |
OMIM:615643 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity |
ORPHA:521406 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Babinski sign, ... |
OMIM:615157 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hype... |
ORPHA:13 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... |
OMIM:603516 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Brady... |
OMIM:137440 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... |
OMIM:606693 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... |
ORPHA:157941 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Ob... |
OMIM:300055 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Blepharospasm,... |
ORPHA:53351 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Hemiparesis, Parkinsonism, Bradykinesia |
ORPHA:306669 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hemiparesis, Bradykinesia, Truncal ata... |
OMIM:601338 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Spastic paraparesis,... |
ORPHA:289560 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition |
OMIM:168605 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Dysphagia, Limb ata... |
OMIM:109150 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... |
OMIM:300623 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Manganese Poisoning |
|
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, Hypertonia... |
ORPHA:306682 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagia, Abnormal pyrami... |
ORPHA:227510 |
Nuchal Bleb, Familial |
|
Stillbirth |
OMIM:257350 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Cogwheel rigidity, Bradykinesia, Dysphagia, Parkinsonism with favorable response to dopam... |
ORPHA:254886 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... |
ORPHA:33069 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign |
OMIM:619063 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:98755 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... |
OMIM:617854 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia |
OMIM:619911 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Blepharospas... |
ORPHA:240071 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity |
OMIM:613402 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... |
OMIM:609425 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:102 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination, Neuromuscular dysphagia |
ORPHA:171442 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... |
OMIM:618877 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Childhood-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Clumsiness, Bradykinesia, Poor fine motor coordination, Slender build |
ORPHA:171439 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dysphagia, Frequen... |
ORPHA:75567 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive |
OMIM:125800 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Dysph... |
ORPHA:225147 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive |
OMIM:304800 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:98933 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... |
ORPHA:240094 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Inappropriate behavior, Parkinsonism |
ORPHA:412066 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Bradykinesia, Dysphagia |
ORPHA:228346 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dysphagi... |
ORPHA:171695 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Dysphagia, Spasticity |
ORPHA:98760 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hereditary Late-Onset Parkinson Disease |
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Resting tremor, Parkinsonism, Impulsivity, Rigidity, Weight loss, Bradykinesia, Agitation, Dyspha... |
ORPHA:411602 |
Ochoa Syndrome |
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Polydipsia |
ORPHA:2704 |
Spinocerebellar Ataxia Type 13 |
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Torticollis, Limb ataxia, Gait ataxia, Clumsiness, Titubation, Bradykinesia, Myoclonus, Dysphagia |
ORPHA:98768 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... |
OMIM:610217 |
Parkinson Disease, Late-Onset |
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Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:168600 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... |
ORPHA:98808 |
Intellectual Developmental Disorder, X-Linked 101 |
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Hyperactivity |
OMIM:300928 |
Postencephalitic Parkinsonism |
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Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... |
ORPHA:97349 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neonatal death |
OMIM:257100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Parkinsonism, Rigidity, Babinski sign, Dysphagia, Gait ataxia, Limb ataxia, Bradykinesia, Truncal... |
OMIM:258450 |
Familial Hyperaldosteronism Type I |
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Polydipsia |
ORPHA:403 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Hyperactivity, Impulsivity, Aggressive behavior, Failure to thrive, Self-mutilation |
OMIM:604317 |
Parkinson Disease 14, Autosomal Recessive |
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Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... |
OMIM:612953 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Nephrogenic Diabetes Insipidus |
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Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
Cystinosis |
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Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
Autosomal Recessive Spastic Paraplegia Type 77 |
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Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hyperactivity, Failure to thrive |
OMIM:274270 |
Hypermanganesemia With Dystonia 2 |
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Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... |
OMIM:617013 |
Progressive Supranuclear Palsy |
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Impulsivity, Tremor, Rigidity, Blepharospasm, Bradykinesia, Dysphagia |
ORPHA:683 |
Parkinson Disease 1, Autosomal Dominant |
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Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dysphagia |
OMIM:168601 |
Parkinson Disease 20, Early-Onset |
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Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:615530 |
Neuroferritinopathy |
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Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Nephronophthisis 4 |
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Polydipsia |
OMIM:606966 |
Pediatric-Onset Graves Disease |
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Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Apparent Mineralocorticoid Excess |
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Polydipsia, Failure to thrive |
ORPHA:320 |
Bardet-Biedl Syndrome 17 |
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Polydipsia, Obesity |
OMIM:615994 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia |
OMIM:613677 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Senior-Loken Syndrome 3 |
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Polydipsia |
OMIM:606995 |
Rett Syndrome |
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Limb apraxia, Bradykinesia, Agitation, Failure to thrive, Abnormal repetitive mannerisms, Stereot... |
ORPHA:778 |
Secondary Non-Traumatic Avascular Necrosis |
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Abnormality of connective tissue, Addictive alcohol use |
ORPHA:399180 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal py... |
OMIM:234200 |
East Syndrome |
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Polydipsia, Salt craving |
ORPHA:199343 |
Gand Syndrome |
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Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Young-Onset Parkinson Disease |
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Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Spasticity |
ORPHA:2828 |
Familial Hyperaldosteronism Type Iii |
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Polydipsia |
ORPHA:251274 |
Caribbean Parkinsonism |
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Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Renal Hypoplasia |
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Polydipsia, Small for gestational age |
ORPHA:93101 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, D... |
OMIM:157640 |
Nephronophthisis 1 |
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Polydipsia |
OMIM:256100 |
Phenylketonuria |
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Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
OMIM:261600 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Compulsive behaviors, Dysph... |
ORPHA:93256 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
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Stillbirth |
OMIM:183300 |
Nephronophthisis 3 |
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Polydipsia |
OMIM:604387 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Hyperactivity, Failure to thrive, Aggressive behavior |
OMIM:615286 |
Guanidinoacetate Methyltransferase Deficiency |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
ORPHA:382 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Septo-Optic Dysplasia Spectrum |
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Polydipsia, Obesity |
ORPHA:3157 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Primary Unilateral Adrenal Hyperplasia |
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Polydipsia |
ORPHA:231580 |
Hyperparathyroidism, Neonatal Severe |
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Polydipsia, Failure to thrive |
OMIM:239200 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Nephronophthisis 11 |
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Polydipsia |
OMIM:613550 |
Whipple Disease |
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Cachexia, Polydipsia, Anorexia |
ORPHA:3452 |
Gitelman Syndrome |
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Failure to thrive, Polydipsia, Salt craving, Chondrocalcinosis |
OMIM:263800 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Hyperactivity, Failure to thrive, Aggressive behavior |
ORPHA:369939 |
Oligomeganephronia |
|
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2260 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Polydipsia |
ORPHA:369929 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Aggressive behavior |
OMIM:612716 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... |
ORPHA:254892 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Failure to thrive in infancy, Inappropriate laughter, A... |
OMIM:614104 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Impulsivity, Dysphagia, Aggressive behavior |
ORPHA:500180 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... |
ORPHA:2388 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Babinski sign, Failure to thrive, Spastic tetraparesis |
OMIM:614924 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620023 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... |
OMIM:617600 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive |
OMIM:248250 |
Parathyroid Carcinoma |
|
Weight loss, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:143 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Failure to thrive |
OMIM:619239 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:609454 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tongue thrusting, Pica, Stereotypical body rocking, Tics, Failure to thrive |
OMIM:617865 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... |
OMIM:620242 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411629 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Erdheim-Chester Disease |
|
Polydipsia, Weight loss |
ORPHA:35687 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... |
ORPHA:309854 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Polydipsia, Chondrocalcinosis, Dysphagia |
ORPHA:99880 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... |
ORPHA:209905 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:601104 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... |
ORPHA:98794 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Polydipsia |
ORPHA:769 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Failure to thrive |
OMIM:602522 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive |
ORPHA:18 |
Isolated Osteopoikilosis |
|
Keloids, Addictive alcohol use |
ORPHA:166119 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411634 |
Wolfram Syndrome |
|
Polydipsia |
ORPHA:3463 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Polydipsia, Enamel hypomineralization |
ORPHA:47159 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Self-mutilation, Cachexia |
ORPHA:52503 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Failure to thrive, Small for gestational age, Chondrocalcinosis |
OMIM:241200 |
Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
Gitelman Syndrome |
|
Failure to thrive, Polydipsia, Salt craving, Chondrocalcinosis |
ORPHA:358 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
Staphylococcal Necrotizing Pneumonia |
|
Addictive alcohol use |
ORPHA:36238 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use |
ORPHA:90065 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use, Scarring, Corneal scarring |
ORPHA:101330 |
Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use |
ORPHA:31826 |