Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Impaired vibratory sensation, Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity o... |
OMIM:500013 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Lim... |
ORPHA:95434 |
Hereditary Liability to Pressure Palsies (HNPP) |
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Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spinal Muscular Atrophy, Segmental |
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Abnormal anterior horn cell morphology |
OMIM:183020 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Primary Lateral Sclerosis, Adult, 1 |
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Abnormal upper motor neuron morphology |
OMIM:611637 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology |
OMIM:607641 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:485421 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Abnormal mitochondrial mor... |
ORPHA:275872 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape, Ataxia, Optic atrophy, Gait ataxia, EEG abnormality |
ORPHA:543470 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cryptorchidism, F... |
OMIM:611890 |
Juvenile Primary Lateral Sclerosis |
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Abnormal upper motor neuron morphology |
ORPHA:247604 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Decreased nerve conduction velocity, Mitochondrial swelling |
ORPHA:397744 |
Amyotrophic Lateral Sclerosis 11 |
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Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Mitochondrial hypertrophy, Facial palsy |
OMIM:602541 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Hyperprolinemia, Type I |
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Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Polyglucosan Body Neuropathy, Adult Form |
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Orthostatic hypotension, Neurogenic bladder, Distal sensory impairment, Paresthesia, Abnormal upp... |
OMIM:263570 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Primary Lateral Sclerosis, Juvenile |
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Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Hyperlysinemia, Type I |
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Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Spastic Paraplegia Type 7 |
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Optic disc pallor, Somatic sensory dysfunction, Optic atrophy, Abnormal mitochondrial morphology,... |
ORPHA:99013 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Boucher-Neuhauser Syndrome |
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Abnormal upper motor neuron morphology, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia |
OMIM:215470 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
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Abnormal lower motor neuron morphology |
OMIM:611067 |
Hsd10 Mitochondrial Disease |
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Choreoathetosis, Optic atrophy, Abnormal mitochondrial morphology |
OMIM:300438 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology |
OMIM:607225 |
Primary Lateral Sclerosis |
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Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Phenylketonuria |
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Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... |
OMIM:261600 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Abnormal upper motor neuron morphology, EEG abnormality |
OMIM:221770 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology |
ORPHA:52430 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Fumarase Deficiency |
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Mitochondrial swelling, Optic atrophy |
OMIM:606812 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:2590 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Dysmetria |
OMIM:615578 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Impaired vibratory sensation, Gait ataxia |
OMIM:601162 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Abnormal upper mot... |
OMIM:205100 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ... |
ORPHA:276244 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Fa... |
ORPHA:79139 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, EEG with continuous slow activity |
ORPHA:100070 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Optic atrophy, Ataxia |
OMIM:614298 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |