Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
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 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Dystonia 16 |
|
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... |
ORPHA:210571 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysphagia, Rigidity, Bradykinesia, Dysdiadochokinesis |
ORPHA:228169 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism |
OMIM:618317 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:613643 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Bradykinesia, Ataxia, Death in childhood, Lethargy |
OMIM:618683 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Dysphagia, Small for gestational age, Choreoathetosis, Rigidity, Bradykinesia, Tremor, ... |
OMIM:261640 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Dystonia 16 |
|
Postural tremor, Gait disturbance, Dysphagia, Involuntary movements, Parkinsonism, Bradykinesia, ... |
OMIM:612067 |
Dystonia 12 |
|
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism |
OMIM:128235 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait a... |
ORPHA:71517 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Lethargy |
ORPHA:30925 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... |
ORPHA:240103 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign |
OMIM:619052 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... |
ORPHA:53351 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivity, Progressive cere... |
ORPHA:248111 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... |
OMIM:618824 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Lower limb spasticity, B... |
ORPHA:100984 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
OMIM:609161 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dysphagia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Atax... |
OMIM:607136 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
Huntington Disease |
|
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Polyphagia... |
ORPHA:399 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Dysphagia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, A... |
OMIM:617435 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... |
OMIM:300894 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... |
ORPHA:13 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Dysphagia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykines... |
OMIM:606159 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykine... |
OMIM:606693 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, Resting tremor, Sp... |
OMIM:617225 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Polydipsia, Lethargy |
ORPHA:178029 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:619279 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Infantile Dystonia-Parkinsonism |
|
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... |
ORPHA:238455 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... |
ORPHA:97355 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Gait disturbance, Dysphagia, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuf... |
ORPHA:289560 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... |
ORPHA:99750 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Parkinsonism |
ORPHA:412066 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... |
ORPHA:240071 |
Huntington Disease |
|
Chorea, Gait ataxia, Bradykinesia, Rigidity |
OMIM:143100 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder |
OMIM:204750 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Small for gestational age, Rigidity, Cerebral palsy, Bradykinesia, Tre... |
ORPHA:70594 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Dysphagia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomo... |
OMIM:183090 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... |
OMIM:615157 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradyk... |
ORPHA:98755 |
Parkinson Disease 20, Early-Onset |
|
Dystonia, Dysphagia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism |
OMIM:615530 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Parkinsonism, Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesi... |
OMIM:300055 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Dystonia, Dysphagia, Bradykinesia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Weight lo... |
ORPHA:157941 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Machado-Joseph Disease |
|
Dystonia, Dysphagia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Brady... |
OMIM:109150 |
Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:227510 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
Neuroferritinopathy |
|
Involuntary movements, Dystonia, Dysphagia, Arm dystonia, Leg dystonia, Babinski sign, Writer's c... |
ORPHA:157846 |
Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Dysphagia, Gait imbalance, Rigidity, Frequent falls, Shuf... |
ORPHA:75567 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Dysphagia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Parkinsonism with favorable response ... |
ORPHA:254886 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... |
OMIM:613280 |
Gerstmann-Straussler Disease |
|
Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Park... |
OMIM:137440 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Dystonia, Bradykinesia, Spastic tetraparesis |
OMIM:614924 |
Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:102 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemip... |
ORPHA:225147 |
Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Dysphagia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting... |
OMIM:168601 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Polydipsia, Truncal obesity, Polyphagia |
OMIM:615986 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia |
OMIM:619063 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Dystonia, Dysphagia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykines... |
ORPHA:171695 |
Perry Syndrome |
|
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... |
OMIM:168605 |
Spinocerebellar Ataxia Type 8 |
|
Dystonia, Dysphagia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Spasticity, Unsteady gai... |
ORPHA:98760 |
Childhood-Onset Nemaline Myopathy |
|
Clumsiness, Slender build, Bradykinesia, Waddling gait, Neuromuscular dysphagia, Difficulty walking |
ORPHA:171439 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Parkinson Disease 8, Autosomal Dominant |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607060 |
Nuchal Bleb, Familial |
|
Stillbirth |
OMIM:257350 |
Parkinson Disease, Late-Onset |
|
Dystonia, Dysphagia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait... |
OMIM:168600 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Difficulty walking, Bradykinesia |
ORPHA:171442 |
Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:98933 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Postencephalitic Parkinsonism |
|
Involuntary movements, Babinski sign, Dysphagia, Tremor by anatomical site, Rigidity, Bradykinesi... |
ORPHA:97349 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dysphagia, Rigidity, Steppage gait, Bradykinesia, Parkinsonism, Limb ataxia, Gait ataxia |
OMIM:258450 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dysphagia, Rigidity, Frequent falls, Weight loss, Shuffling gait, Bradykinesia, Parkins... |
ORPHA:411602 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... |
ORPHA:466722 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... |
OMIM:300623 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... |
ORPHA:98808 |
Waisman Syndrome |
|
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:311510 |
Progressive Supranuclear Palsy |
|
Dystonia, Dysphagia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm |
ORPHA:683 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia |
OMIM:304900 |
Manganese Poisoning |
|
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... |
ORPHA:306682 |
Spinocerebellar Ataxia Type 13 |
|
Clumsiness, Dysphagia, Torticollis, Myoclonus, Bradykinesia, Titubation, Gait ataxia, Limb ataxia... |
ORPHA:98768 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysphagia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactiv... |
OMIM:610217 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... |
ORPHA:199351 |
Rett Syndrome |
|
Gait disturbance, Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Inability ... |
ORPHA:778 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination |
ORPHA:36387 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polydipsia |
OMIM:304800 |
Dravet Syndrome |
|
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... |
ORPHA:33069 |
East Syndrome |
|
Polydipsia, Salt craving, Ataxia, Inability to walk, Difficulty walking |
ORPHA:199343 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dysphagia, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, A... |
OMIM:234200 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Polyphagia |
OMIM:275000 |
Cystinosis |
|
Failure to thrive, Gait disturbance, Polydipsia |
ORPHA:213 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Supranuclear Palsy, Progressive, 1 |
|
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retroco... |
OMIM:601104 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Kufor-Rakeb Syndrome |
|
Parkinsonism, Gait disturbance, Dysphagia, Babinski sign, Lingual dystonia, Rigidity, Eyelid apra... |
ORPHA:306674 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Brad... |
OMIM:609454 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Polydipsia |
OMIM:615994 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth |
OMIM:183300 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Attention deficit hyperactivity disorder |
OMIM:188570 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Polydipsia |
ORPHA:320 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Dysphagia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicatio... |
OMIM:157640 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait disturbance, Dysphagia, Rigidity, Dysmetria, Bradykinesia, Intention tremor, Ataxia, Parkins... |
ORPHA:93256 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Polydipsia |
ORPHA:223 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia |
ORPHA:369929 |
Renal Hypoplasia |
|
Small for gestational age, Polydipsia |
ORPHA:93101 |
Gitelman Syndrome |
|
Chondrocalcinosis, Polydipsia, Failure to thrive, Salt craving, Ataxia |
OMIM:263800 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia |
OMIM:612780 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait disturbance, Dysphagia, Rigidity, Frequent falls, Failure to thrive, Abnormality of extrapyr... |
ORPHA:254892 |
Whipple Disease |
|
Ataxia, Cachexia, Polydipsia |
ORPHA:3452 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age |
OMIM:609425 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Young-Onset Parkinson Disease |
|
Dystonia, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity |
ORPHA:2828 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Lethargy |
OMIM:274270 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Polydipsia |
OMIM:239200 |
Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal dyskinesia, Extrap... |
ORPHA:157946 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia |
ORPHA:3157 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia, Small for gestational age, Polydipsia |
ORPHA:2260 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Abnormal eating behavior |
ORPHA:101039 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Multiple System Atrophy 1, Susceptibility To |
|
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism |
OMIM:146500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... |
ORPHA:309854 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Dysphagia, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... |
ORPHA:2388 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Joint contracture of the hand, Arthrogryposis multiplex congenita, Ing... |
ORPHA:352490 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Abnormal drinking behavior, Failure to thrive, Falls, Abnormal eating behavior, Hyperac... |
ORPHA:209905 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Polydipsia |
OMIM:248250 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Decreased body weight |
OMIM:618342 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Parathyroid Carcinoma |
|
Dysphagia, Chondrocalcinosis, Polydipsia, Weight loss, Lipoma |
ORPHA:143 |
Erdheim-Chester Disease |
|
Ataxia, Weight loss, Polydipsia |
ORPHA:35687 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Choking episodes, Hyperactivity, Ataxia, Flexion contracture, Unstead... |
ORPHA:35069 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia |
ORPHA:228402 |
Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Hyperactivity, Small for gestational age, Failure to thrive |
OMIM:610883 |
Senior-Boichis Syndrome |
|
Attention deficit hyperactivity disorder, Polydipsia |
ORPHA:84081 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... |
ORPHA:363400 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Polydipsia |
ORPHA:411629 |
Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, Hyperactivity, Dysphagia, Congenital finger flexio... |
ORPHA:166108 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Gait imbalance, Abnormal eating behavior, Ataxia, Hyperactivity, Broad-based gait, Obe... |
ORPHA:98794 |
Toxic Epidermal Necrolysis |
|
Weight loss, Dysphagia, Polydipsia |
ORPHA:537 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Wolfram Syndrome |
|
Ataxia, Polydipsia |
ORPHA:3463 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive |
OMIM:617865 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Chondrocalcinosis, Lipoma, Polydipsia |
ORPHA:99880 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Polydipsia |
ORPHA:769 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Polydipsia |
ORPHA:18 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Dysphagia, Hernia |
OMIM:252930 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk |
OMIM:618718 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Polydipsia |
ORPHA:411634 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity |
OMIM:615286 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dysphagia, Failure to thrive in infancy, Polydipsia |
OMIM:219800 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Enamel hypomineralization, Polydipsia |
ORPHA:47159 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Chondrocalcinosis, Small for gestational age, Polydipsia |
OMIM:241200 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Mucopolysaccharidosis, Type Iiid |
|
Hyperactivity, Dysphagia, Flexion contracture |
OMIM:252940 |
Gitelman Syndrome |
|
Failure to thrive, Salt craving, Chondrocalcinosis, Polydipsia |
ORPHA:358 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Broad-based gait |
OMIM:300958 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysphagia, Dysmetria, Hamstring contractures, Hyperactivity, Inability to walk,... |
ORPHA:139396 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia |
OMIM:614104 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity |
ORPHA:412035 |
Citrullinemia Type Ii |
|
Hyperactivity, Decreased body mass index, Abnormal eating behavior, Lethargy |
ORPHA:247585 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obesity, Polydipsia, Polyphagia |
ORPHA:293987 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... |
ORPHA:73272 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Hyperactivity |
ORPHA:369939 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Myoclonic-Astatic Epilepsy |
|
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity |
OMIM:619239 |
Angelman Syndrome |
|
Dysphagia, Polyphagia, Hyperactivity, Inability to walk, Ataxia, Broad-based gait, Obesity |
ORPHA:72 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia |
ORPHA:530983 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Hyperactivity, Bulimia, Ataxia |
OMIM:300912 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
Hyperlysinemia |
|
Dysphagia, Dysmetria, Failure to thrive, Hyperactivity, Tip-toe gait |
ORPHA:2203 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Failure to thrive, Shuffling gait, Hyperactivity, Flexion contracture, Decreased body weight |
OMIM:300534 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia |
OMIM:610042 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Hyperactivity, Broad-based gait, Camptodactyly of finger, Obesity, Inguinal hernia |
ORPHA:85293 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Inability to walk, Gait ataxia |
OMIM:103050 |
7Q11.23 Microduplication Syndrome |
|
Polyphagia, Dysmetria, Congenital diaphragmatic hernia, Hyperactivity, Unsteady gait, Obesity, In... |
ORPHA:96121 |
Angelman Syndrome |
|
Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Hernia, Amelogenesis imperfecta, Hyperactivity, Enamel hypoplasia |
OMIM:617052 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age |
ORPHA:424 |
Wiedemann-Steiner Syndrome |
|
Failure to thrive, Hyperactivity, Dysphagia |
ORPHA:319182 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Multiple joint contractures, Hyperactivity, Dysphagia |
ORPHA:447997 |
Coffin-Siris Syndrome |
|
Hyperactivity, Oral aversion, Hernia |
ORPHA:1465 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Multiple lipomas |
ORPHA:137605 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Failure to thrive, Large for gestational age, Hyperactivity, Attention deficit hyperactivity diso... |
OMIM:607721 |
Argininemia |
|
Hyperactivity, Spastic gait |
OMIM:207800 |
Brooks-Wisniewski-Brown syndrome |
|
Hyperactivity, Flexion contracture, Small for gestational age |
OMIM:300612 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Dysphagia, Corneal scarring, Fasciitis, Hyperactivity, Atypical scarring of skin, Difficulty walking |
ORPHA:642 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Failure to thrive, Hyperactivity, Episodic ataxia, Umbilical hernia |
ORPHA:1934 |