| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... |
OMIM:608636 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608631 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Null Syndrome |
|
CNS hypomyelination, Difficulty walking, Inability to walk, Peripheral demyelination, Demyelinati... |
ORPHA:280234 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy, Reduced social reciprocity |
OMIM:606053 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination, Ataxia |
ORPHA:88637 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness |
OMIM:618221 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:209850 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Ataxia, Cavitating leukodystrophy |
OMIM:619061 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Emotional lability, Cerebral hypomyelination, Gait disturbance, CNS demyelination, Gliosis, Unste... |
OMIM:603896 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
CNS hypomyelination, Basal lamina onion bulb formation, Distal sensory impairment, Decreased numb... |
OMIM:214400 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, CNS hypomyelination, Inability to walk, Aggressive behavior, Hyperactivi... |
OMIM:620023 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Depression, CNS hypomyelination, Sudanophilic leukodystrophy, Inability to walk... |
OMIM:312080 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Gliosis, Emotional blunting, Mot... |
OMIM:172700 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Delayed CNS myelination, Demyelinating peripheral neuropathy, Impaired distal propriocept... |
OMIM:619742 |
| Leukodystrophy, Hypomyelinating, 11 |
|
CNS hypomyelination, Leukodystrophy, Ataxia |
OMIM:616494 |
| Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Leukodystrophy, Childhood-Onset, Remitting |
|
Gait disturbance, Leukodystrophy, Irritability |
OMIM:619864 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
CNS hypomyelination, Inability to walk, Recurrent hand flapping, Gait ataxia, Emotional lability,... |
OMIM:619580 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, CNS hypomyelination |
OMIM:618557 |
| Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dysmetria, ... |
ORPHA:217260 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Truncal ataxia, Limb ataxia, CNS hypomyelination, Leukodystrophy |
OMIM:617560 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination, Ataxia |
OMIM:619688 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Delayed myelination, Motor stereotypy |
OMIM:617830 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
CNS hypomyelination, Irritability, Ataxia |
OMIM:615281 |
| Leukodystrophy, Hypomyelinating, 15 |
|
CNS hypomyelination, Leukodystrophy, Loss of ambulation, Ataxia, Athetosis, Dysphagia |
OMIM:617951 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:619150 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
CNS hypomyelination, Leukodystrophy, Dysmetria, Loss of ambulation, Ataxia, Dysphagia |
OMIM:607694 |
| Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Aggressive behavior, Reduced social reciprocity |
OMIM:618103 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, CNS hypomyelination, Somatic sensory dysfunction, Ataxia |
ORPHA:320401 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Difficulty walking, Chorea, Irritability, Cerebral hypomyelination, Ataxia, Del... |
ORPHA:79097 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Leukodystrophy, Ataxia |
OMIM:614561 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Aggressive behavior, Cerebral hypomyelination, CNS hypomyelination, Hyperactivity |
ORPHA:369939 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Astrocytosis, Disinhibition, Irritability, Aggressi... |
ORPHA:275864 |
| Adenylosuccinase Deficiency |
|
CNS hypomyelination, Inability to walk, Inappropriate laughter, Gait ataxia, Self-mutilation, Agg... |
OMIM:103050 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Difficulty walking, CNS hypomyelination, Leukodystrophy, Ataxia |
ORPHA:527497 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Shuffling gait, Depression, Somatic sensory dysfunction, Gait disturbance, CNS demyelination, Gli... |
OMIM:221820 |
| Giant Axonal Neuropathy |
|
CNS hypomyelination, Falls, Difficulty walking, Distal sensory impairment, Unsteady gait |
ORPHA:643 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
CNS hypomyelination, Leukodystrophy, Impaired vibration sensation in the lower limbs, Positive Ro... |
ORPHA:447896 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy |
OMIM:614063 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination, Dysmetria, Distal sensory impairment, Ataxia, Spastic gait |
OMIM:613206 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Gliosis, Ataxia, ... |
ORPHA:280210 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
CNS hypomyelination, Leukodystrophy, Gait ataxia, Dysmetria, Cerebral hypomyelination, Ataxia, Dy... |
OMIM:614381 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| 4H Leukodystrophy |
|
Dysmetria, Progressive gait ataxia, Cerebral hypomyelination, Ataxia, Dysphagia, Dysdiadochokinesis |
ORPHA:289494 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Gait disturbance, Leukodystrophy |
OMIM:616859 |
| Retinal Dystrophy With Leukodystrophy |
|
Falls, CNS hypomyelination, Dysmetria, Waddling gait |
OMIM:618863 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk |
OMIM:617820 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Astrocytosis, Disinhibition, Aggressive behavior, Gait disturbance, Restl... |
OMIM:600795 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation |
OMIM:617171 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Delayed CNS myelination, Hyperactivity |
OMIM:619031 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, CNS demyeli... |
OMIM:610245 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination, Irritability |
OMIM:619125 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, CNS hypomyelination |
OMIM:619328 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... |
ORPHA:66624 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, CNS hypomyelination, Obsessive-compulsive trait |
OMIM:619908 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Choreoathetosis, Leukodystrophy, Ataxia |
OMIM:612438 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy, Ataxia |
OMIM:619196 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
| Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Gait disturbance, CNS hypomyelination |
OMIM:618012 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Pseudobulbar paralysis, Difficulty walking, Dysmetria, Cerebral hypomyelination, Ataxia |
ORPHA:438114 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
CNS hypomyelination |
OMIM:620425 |
| Foxg1 Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr... |
ORPHA:561854 |
| Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Athetosis, Delayed myelination |
ORPHA:621 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Leukodystrophy, Cerebral hypomyelination, Ataxia, Demyelinating motor neuropathy, Choreoathetosis |
OMIM:608804 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
CNS hypomyelination, Difficulty walking, Inability to walk, Irritability, Aggressive behavior, At... |
ORPHA:481152 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Delayed CNS myelination, Motor stereotypy, Irritability |
OMIM:617393 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
CNS hypomyelination, Leukodystrophy, Inability to walk, Dysmetria, Ataxia, Dysphagia |
OMIM:619576 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Loss of ambulation, CNS hypomyelination, Onion bulb formation, Leukodystrophy |
OMIM:610532 |
| Huppke-Brendel Syndrome |
|
Inability to walk, CNS hypomyelination |
OMIM:614482 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Dysmetria, Loss of ambulation, Ataxia, Dysphagia |
OMIM:617916 |
| Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
CNS hypomyelination, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Ataxia, Dysphagia |
ORPHA:300605 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Difficulty walking, Gait disturbance, CNS hypomyelination, Inability to walk |
ORPHA:280229 |
| Lissencephaly 8 |
|
Cerebral hypomyelination, Delayed early-childhood social milestone development |
OMIM:617255 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Depression, Gait imbalance, Gait ataxia, Aggressive behavior, Spastic ataxia, Gait disturbance, G... |
OMIM:618369 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Delayed myelination, Motor stereotypy |
OMIM:613886 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, CNS hypomyelination, Leukodystrophy |
OMIM:616420 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination |
OMIM:300475 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing |
ORPHA:397933 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Peripheral demyelination, Gait ataxia, Loss of ambulation, CNS demyelination, Dysphagia |
OMIM:249900 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Difficulty walking, Dystonic gait, Cerebral hypomyelination, Ataxia, Athetosis |
ORPHA:280219 |
| Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination, Choreoathetosis |
OMIM:612164 |
| Developmental And Epileptic Encephalopathy 5 |
|
CNS hypomyelination |
OMIM:613477 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Delayed CNS myelination, Ataxia |
OMIM:616421 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination, Athetosis, Ataxia |
OMIM:612951 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Delayed CNS myelination, CNS hypomyelination, Ataxia |
OMIM:619260 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... |
OMIM:618917 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
CNS hypomyelination, Gliosis |
OMIM:616239 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination |
OMIM:615760 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Impaired pain sensation, Inability to walk, Bruxism, Inappropriate laughter... |
ORPHA:3095 |
| Multiple Sclerosis, Susceptibility To |
|
Depression, Paresthesia, CNS demyelination, Emotional lability |
OMIM:126200 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Delayed myelination, Abnormal soc... |
ORPHA:444002 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Depression, Leukodystrophy, Pseudobulbar paralysis, Gliosis, Ataxia, Symmetric peripheral demyeli... |
OMIM:169500 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Delayed CNS myelination, Broad-based gait, Tongue thrusting, Gait ataxia |
OMIM:620393 |
| Hsd10 Disease |
|
Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Abnormal temper tantrums, CNS hypomyelination, Tip-toe gait, Recurrent hand flapping, Ano... |
ORPHA:3008 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:609425 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, CNS hypomyelination, Gliosis, Ataxia |
OMIM:617193 |
| Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Delayed CNS myelination, Athetosis |
OMIM:615473 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Shuffling gait, Leukodystrophy, Gait ataxia, Dysmetria, Delayed CNS myelination... |
OMIM:617964 |
| Ddost-Cdg |
|
CNS hypomyelination |
ORPHA:300536 |
| Alg2-Cdg |
|
Cerebral hypomyelination |
ORPHA:79326 |
| Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
| Developmental And Epileptic Encephalopathy 29 |
|
Chorea, CNS hypomyelination |
OMIM:616339 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:618218 |
| Allan-Herndon-Dudley Syndrome |
|
Leukodystrophy, Inability to walk, Irritability, Delayed CNS myelination, Ataxia, Athetosis |
OMIM:300523 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Difficulty walking, Leukodystrophy, Ataxia |
OMIM:618242 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
CNS hypomyelination, Dysmetria, Ataxia |
OMIM:618527 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619286 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Acroparesthesia, Difficulty walking, Emotional lability, Impaired tactil... |
ORPHA:206443 |
| Developmental And Epileptic Encephalopathy 75 |
|
CNS hypomyelination |
OMIM:618437 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608049 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... |
ORPHA:101039 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy |
OMIM:617613 |
| Tremor, Hereditary Essential, 6 |
|
Leukodystrophy |
OMIM:618866 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Falls, Irritability, Leukodystrophy, Ataxia |
OMIM:619224 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Gait disturbance, CNS demyelination, Disinhibition |
OMIM:618193 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
CNS hypomyelination, Difficulty walking, Inability to walk, Chorea, Ataxia, Truncal ataxia, Athet... |
OMIM:615356 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... |
ORPHA:544254 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... |
OMIM:617695 |
| Microcephaly-Capillary Malformation Syndrome |
|
CNS hypomyelination, Delayed myelination |
OMIM:614261 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Attention deficit hyperactivity disorder, Delayed CNS myelination, Motor tics, Ataxia, Mo... |
OMIM:619725 |
| Glutamine Deficiency, Congenital |
|
CNS hypomyelination |
OMIM:610015 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Reduced social reciprocity |
ORPHA:329249 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Leukodystrophy, Irritability, Loss of ability to walk in early childhood, Ataxia, Unsteady gait |
ORPHA:401866 |
| Peroxisome Biogenesis Disorder 8B |
|
Tip-toe gait, Leukodystrophy, Peripheral demyelination, Gait ataxia, Dysmetria, Loss of ambulatio... |
OMIM:614877 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Dysmetria, Delayed CNS myelination, Leukodystrophy, Ataxia |
OMIM:618688 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Inability to walk, Reduced social reciprocity, Attention deficit hyperactivity ... |
OMIM:617854 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
CNS hypomyelination, Leukodystrophy, Dysmetria, Ataxia, Dysphagia |
OMIM:619708 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia, CNS demyelination, Leukodystrophy, Irritability |
OMIM:264470 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination |
OMIM:618186 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination, Difficulty walking, Broad-based gait |
ORPHA:477673 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity, Ataxia |
ORPHA:137831 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
CNS hypomyelination |
OMIM:618622 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Motor stereotypy, Excessive shyness, Waddling gait |
ORPHA:280763 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Leukodystrophy, Irritability |
OMIM:615010 |
| Leigh Syndrome, Nuclear |
|
Emotional lability, CNS demyelination, Gliosis, Ataxia |
OMIM:256000 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia |
OMIM:619738 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Cerebral hypomyelination, Motor stereotypy, Inability to walk |
ORPHA:457351 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination |
OMIM:615966 |
| Sandhoff Disease |
|
Impaired temperature sensation, CNS hypomyelination, Ataxia |
OMIM:268800 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... |
OMIM:614104 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior |
ORPHA:530983 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
CNS hypomyelination, Dysphagia, Self-mutilation |
OMIM:618922 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
CNS hypomyelination, Delayed myelination |
OMIM:614922 |
| Xq28 (MECP2) duplication |
|
Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy |
DECIPHER:45 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,... |
OMIM:615157 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Dysphagia, Emotional lability, Disinhibition |
OMIM:612069 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Self-mutilation, Gait disturbance, Gliosis, Motor stereotypy |
ORPHA:457240 |
| Marchiafava-Bignami Disease |
|
Depression, Abnormal emotion, Gait ataxia, Aggressive behavior, Addictive alcohol use, Gait distu... |
ORPHA:221074 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral hypomyelination, Motor stereotypy, Dysphagia, Ataxia |
ORPHA:496641 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Difficulty walking, Gait ataxia, Delayed CNS myelination, Motor stereotypy |
OMIM:617807 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:619317 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Chorea, Reduced social reciprocity, Irritability, Motor stereotypy, Tongue thrusting, At... |
OMIM:613454 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Delayed CNS myelination, Motor stereotypy |
OMIM:619877 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral hypomyelination, Athetosis, Delayed myelination, Irritability |
ORPHA:79351 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Delayed CNS myelination, Motor stere... |
OMIM:618004 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Cerebral hypomyelination, Delayed myelination |
OMIM:616683 |
| Childhood Disintegrative Disorder |
|
Abnormal emotion, Motor stereotypy, Reduced social reciprocity |
ORPHA:168782 |
| Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy |
ORPHA:85278 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... |
ORPHA:228402 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
CNS hypomyelination |
OMIM:619423 |
| Dpagt1-Cdg |
|
CNS hypomyelination, Head-banging, Inability to walk, Stereotypical body rocking, Akinesia, Aggre... |
ORPHA:86309 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
CNS hypomyelination, Delayed myelination |
ORPHA:88618 |
| Sandhoff Disease, Infantile Form |
|
CNS hypomyelination |
ORPHA:309155 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... |
OMIM:610042 |
| Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation |
OMIM:617435 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Leukodystrophy |
OMIM:618006 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
CNS hypomyelination, Irritability, Cerebral hypomyelination, Delayed CNS myelination, Dysphagia |
OMIM:618367 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
CNS demyelination, Irritability |
OMIM:618237 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Tip-toe gait, Leukodystrophy, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal ... |
ORPHA:309256 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Delayed CNS myelinatio... |
OMIM:620242 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... |
OMIM:301029 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination |
OMIM:612949 |
| Spinocerebellar Ataxia 21 |
|
Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Delayed CNS myelination, Ataxia, Impulsi... |
OMIM:607454 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Reduced social reciprocity |
OMIM:611092 |
| Combined Saposin Deficiency |
|
CNS demyelination |
OMIM:611721 |
| Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Leukodystrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... |
OMIM:614871 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... |
ORPHA:449291 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Irritability, Cerebral hypomyelination, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:447997 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Leukodystrophy, Pseudobulbar paralysis |
OMIM:616140 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Overfriendliness, Delayed CNS myelination, Motor stereotypy |
OMIM:616579 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Leukodystrophy |
OMIM:614932 |
| L-2-Hydroxyglutaric Aciduria |
|
Severe demyelination of the white matter, Gliosis, Ataxia |
OMIM:236792 |
| Trigeminal Neuralgia |
|
Depression, Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, CNS demyelination |
ORPHA:221091 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, CNS hypomyelination, Stereotypical hand wringing, Aggressive behavior, Gait dis... |
ORPHA:268261 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dysphagia, Irritability, Leukodystrophy, Ataxia |
OMIM:618226 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Inability to walk, Delayed CNS myelination, CNS demyelination, Choreoathetosis |
OMIM:619653 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Gait ataxia, Motor stereotypy, Impaired tactile sensation |
OMIM:619092 |
| Secondary Syringomyelia |
|
Somatic sensory dysfunction, Pseudobulbar paralysis, Difficulty walking, Paresthesia, CNS demyeli... |
ORPHA:99857 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Cerebral hypomyelination, Gait disturbance, Ataxia |
ORPHA:247262 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior, Delayed CNS myelination, Agitation |
OMIM:618339 |
| Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
| Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
| Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination, Ataxia |
OMIM:200100 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed CNS myelination, Irritability, Leukodystrophy, Ataxia |
OMIM:616881 |
| Schilder Disease |
|
CNS demyelination, Ataxia |
ORPHA:59298 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... |
ORPHA:352490 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Leukodystrophy, Ataxia |
OMIM:618225 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Depression, Hostility, Inability to walk, Bruxism, Chorea, Repetitive compuls... |
OMIM:300260 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Unsteady gait, Gliosis, Reduced social reciprocity, Ataxia |
OMIM:256600 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:300352 |
| Gaba-Transaminase Deficiency |
|
Leukodystrophy |
OMIM:613163 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... |
OMIM:618825 |
| Myoclonic-Astatic Epilepsy |
|
Abnormal emotion, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperacti... |
ORPHA:1942 |
| Hengel-Maroofian-Schols Syndrome |
|
Abnormal CNS myelination, Gait imbalance, Inability to walk |
OMIM:619641 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Delayed CNS myelination, Motor stereotypy, Ataxia |
OMIM:619428 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
| Adult Krabbe Disease |
|
Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Peripheral demyelination, Impaire... |
ORPHA:206448 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Abnormal social behavior, Agitation, Disinhibition |
ORPHA:1020 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Fucosidosis |
|
Spastic gait, CNS hypomyelination |
OMIM:230000 |
| Metachromatic Leukodystrophy, Adult Form |
|
Depression, Leukodystrophy, Difficulty walking, Chorea, Emotional lability, Progressive gait atax... |
ORPHA:309271 |
| Waardenburg Syndrome, Type 4A |
|
Leukodystrophy, Ataxia |
OMIM:277580 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Skin-picking, Aggressiv... |
OMIM:600430 |
| Pyruvate Carboxylase Deficiency |
|
Athetosis, Leukodystrophy |
OMIM:266150 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormal social behavior, Progressive gait ataxia, Emotional lability, Leukodystrophy |
ORPHA:309263 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
CNS hypomyelination |
OMIM:614230 |
| Potocki-Lupski Syndrome |
|
Delayed myelination, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Choreoathetosis, Leukodystrophy |
OMIM:612233 |
| Smith-Magenis Syndrome |
|
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Hyp... |
OMIM:182290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... |
OMIM:300986 |
| Aicardi-Goutieres Syndrome 5 |
|
Leukodystrophy, Irritability |
OMIM:612952 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Stereotypical body rocking, Gait ataxia, Cerebral hypomyelination, Repetitive c... |
ORPHA:513456 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:64280 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... |
OMIM:619121 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior, Ga... |
ORPHA:168491 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... |
OMIM:617600 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Choreoathetosis, Leukodystrophy, Ataxia |
OMIM:616034 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster... |
OMIM:618342 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Loss of ambulation, Dysphagia, Motor stereotypy |
ORPHA:79264 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior |
ORPHA:309246 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Difficulty walking, Inability to walk, Dysmetria, Diffuse demyelination of the cerebral white mat... |
ORPHA:139396 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... |
OMIM:300912 |
| Hijazi-Reis Syndrome |
|
Gait disturbance, Motor stereotypy |
OMIM:301094 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619306 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed CNS myelination, Motor... |
OMIM:618354 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:620292 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Motor stereotypy |
OMIM:613443 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Emotional lability, Agitation, Ataxia |
ORPHA:927 |
| Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavi... |
OMIM:606232 |
| Galloway-Mowat Syndrome 6 |
|
Paroxysmal bursts of laughter, Motor stereotypy |
OMIM:618347 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:614501 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Irritability, Delayed CNS myelination, Hyperactivity, Pica, Motor ste... |
OMIM:617796 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Motor stereotypy |
ORPHA:411986 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Truncal ataxia, Limb ataxia, Leukodystrophy |
OMIM:619051 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Reduced social reciprocity |
OMIM:616083 |
| Frontal Encephalocele |
|
Leukodystrophy |
ORPHA:1931 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy |
OMIM:616351 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed myelination, CNS demyelination, Gliosis |
OMIM:214150 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Leukodystrophy, Irritability |
OMIM:615330 |
| 48,Xxyy Syndrome |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Ataxia |
ORPHA:10 |
| Ritscher-Schinzel Syndrome 4 |
|
Chorea, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity |
OMIM:619435 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... |
ORPHA:313892 |
| Rett Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait disturbance, Mo... |
ORPHA:778 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait |
OMIM:618205 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Motor stereotypy |
OMIM:618067 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:620269 |
| Cri-Du-Chat Syndrome |
|
Difficulty walking, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... |
OMIM:123450 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability |
ORPHA:391307 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Gait ataxia, Chorea, Dysphagia, Reduced social reciprocity |
OMIM:614961 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation |
ORPHA:100924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy |
OMIM:300486 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Delayed CNS myelina... |
OMIM:616364 |
| Young-Onset Parkinson Disease |
|
Depression, Gait imbalance, Restless legs, Agitation, Reduced social reciprocity, Impulsivity |
ORPHA:2828 |
| Niemann-Pick Disease Type C |
|
Depression, Abnormal CNS myelination, Leukodystrophy, Chorea, Low frustration tolerance, Disinhib... |
ORPHA:646 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting |
ORPHA:3306 |
| Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617808 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Reduced social reciprocity |
OMIM:617051 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Compulsive behavior... |
OMIM:615656 |
| Wagro Syndrome |
|
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, Aggressive... |
OMIM:612469 |
| Alg11-Cdg |
|
Delayed myelination, Reduced social reciprocity, Ataxia |
ORPHA:280071 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Leukodystrophy, Sudanophilic leukodystrophy |
OMIM:260600 |
| Radio-Tartaglia Syndrome |
|
Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Ataxia,... |
OMIM:619312 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
| Alazami Syndrome |
|
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing |
ORPHA:319671 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Gait ataxia, CNS demyelination, Gliosis, Ataxia |
OMIM:620451 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity... |
OMIM:617061 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy |
OMIM:619851 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Inappropriate laughter, Delayed CNS myelination, Motor stereotypy |
OMIM:615802 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... |
OMIM:619293 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:163976 |
| Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Motor stereotypy, Dysphagia |
OMIM:617802 |
| Aicardi-Goutieres Syndrome 4 |
|
Leukodystrophy |
OMIM:610333 |
| Coffin-Siris Syndrome 7 |
|
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity |
OMIM:618027 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Reduced social... |
OMIM:156200 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Delayed myelination... |
ORPHA:522077 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis, Reduced social recip... |
ORPHA:261197 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Nonprogressive cerebellar ataxia, Choreoathetosis, Leukodystrophy |
ORPHA:431361 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Leukodystrophy, Ataxia |
OMIM:614299 |
| Rere-Related Neurodevelopmental Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, CNS demyelination |
ORPHA:494344 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Emotional lability, Reduced social reciprocity, Spastic ataxia, Motor stereoty... |
ORPHA:300570 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:616393 |
| Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
OMIM:245200 |
| Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Impaired pain sensation, Attention deficit hyperactivity disorder, Gait ... |
ORPHA:819 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... |
ORPHA:457279 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:238750 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
| 48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... |
ORPHA:96263 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity |
OMIM:618914 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity |
OMIM:617751 |
| Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Irritability, Aggressive behavior, CNS demyelination, Ataxia |
ORPHA:83597 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Leukodystrophy, Delayed CNS myelination, Ataxia, Dysphagia, Choreoathetosis |
OMIM:615471 |
| Wiedemann-Rautenstrauch Syndrome |
|
Truncal ataxia, CNS hypomyelination, Leukodystrophy, Ataxia |
ORPHA:3455 |
| Cystinosis |
|
Polydipsia, Gait disturbance, Motor stereotypy |
ORPHA:213 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive cerebellar ataxia, Abnormal... |
ORPHA:314647 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Motor stereotypy, Compulsive behaviors |
OMIM:613174 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Aggressive behavior, H... |
OMIM:309520 |
| Fg Syndrome Type 1 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior, Broad-b... |
ORPHA:93932 |
| Joubert Syndrome 6 |
|
Motor stereotypy, Ataxia |
OMIM:610688 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Aggressive behavior, Delayed CNS myelination, Hyperactivity, Compulsive ... |
ORPHA:468678 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp... |
ORPHA:476126 |
| Beck-Fahrner Syndrome |
|
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity |
OMIM:618798 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:397612 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy |
ORPHA:98784 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Leukodystrophy, Peripheral demyelination, Emotional lability, Ataxia, Tics, Mot... |
OMIM:619475 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
| Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination, Ataxia |
OMIM:272200 |
| Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, CNS demyelination, Self-mutilation |
OMIM:225750 |
| Immunodeficiency 23 |
|
Abnormal CNS myelination, Somatic sensory dysfunction, Ataxia |
OMIM:615816 |
| 3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
ORPHA:435638 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination, Ataxia |
OMIM:610651 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Attention deficit hyperactivity disorder, CNS demyelination |
OMIM:620646 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Leukodystrophy, Frequent temper tantrums, Attention defici... |
OMIM:619575 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Reduced social reciprocity |
ORPHA:254531 |
| Alg8-Cdg |
|
Leukodystrophy, Ataxia |
ORPHA:79325 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... |
ORPHA:177907 |
| 22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1727 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Self-mutilation, Attention deficit hyperactivity disorder, Delayed CNS m... |
OMIM:619005 |
| 47,Xyy Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Reduced social reciprocity |
ORPHA:8 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Cerebrotendinous Xanthomatosis |
|
Depression, Somatic sensory dysfunction, Aggressive behavior, Attention deficit hyperactivity dis... |
ORPHA:909 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Dysphagia |
ORPHA:572013 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Delayed CNS myelination, Dysphagia, Motor stereotypy, Choreoathetosis |
OMIM:619777 |
| Leigh Syndrome |
|
Leukodystrophy, Chorea, Gliosis, Ataxia, Athetosis, Dysphagia, Choreoathetosis |
ORPHA:506 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Inability to walk, Stereotypical hand wringing, Dysphagia, Ataxia, Motor stereotypy, Agitation |
OMIM:619229 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy |
OMIM:619103 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy |
OMIM:212066 |
| Lead Poisoning |
|
Depression, Somatic sensory dysfunction, Reduced social reciprocity, Attention deficit hyperactiv... |
ORPHA:330015 |
| Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Leukodystrophy |
OMIM:610678 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... |
ORPHA:805 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
| Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:2479 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Leukodystrophy |
OMIM:617762 |
| Orofaciodigital Syndrome Xiv |
|
CNS hypomyelination |
OMIM:615948 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Dysmetria, Reduced social reciprocity, Aggressive behavior, Polyphagia, ... |
ORPHA:96121 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
CNS demyelination, Irritability, Ataxia |
OMIM:603553 |
| Canavan Disease |
|
CNS demyelination |
OMIM:271900 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:620494 |
| Hydroxykynureninuria |
|
Motor stereotypy |
ORPHA:79155 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Emotional labil... |
OMIM:620330 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
ORPHA:488618 |
| Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Dysphagia, Ataxia |
OMIM:607625 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Motor stereotypy |
OMIM:300672 |
| 2Q37 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1001 |
| Kleefstra Syndrome 1 |
|
Compulsive behaviors, Aggressive behavior, Motor stereotypy |
OMIM:610253 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... |
ORPHA:1675 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping, Inability to walk |
OMIM:615485 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Abnormal CNS myelination, Abnormal myelination, Gliosis, Inability to walk |
OMIM:620371 |
| Rauch-Steindl Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619695 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
| Helsmoortel-Van Der Aa Syndrome |
|
Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Attention deficit hyperactivity di... |
OMIM:615873 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination |
ORPHA:440713 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Gait ataxia, Motor stereotypy |
OMIM:610954 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
CNS hypomyelination |
OMIM:619534 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, ... |
OMIM:617330 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Leukodystrophy |
OMIM:614462 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Dissociated sensory loss, Paresthesia,... |
ORPHA:139417 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy |
ORPHA:444013 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Frequent temper tantrums, Delayed CNS myelination, Hyperactivity, Compul... |
OMIM:619512 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Delayed CNS myelination, Motor stereotypy |
OMIM:618653 |
| De Sanctis-Cacchione Syndrome |
|
Scissor gait, Choreoathetosis, Leukodystrophy, Ataxia |
OMIM:278800 |
| Bickerstaff Brainstem Encephalitis |
|
Dysesthesia, Acute demyelinating polyneuropathy, CNS demyelination, Ataxia, Sensory ataxia, Impai... |
ORPHA:79138 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation |
ORPHA:261494 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
CNS demyelination |
OMIM:614886 |
| Glycogen Storage Disease Ii |
|
Abnormal CNS myelination, Difficulty walking |
OMIM:232300 |
| Congenital Disorder Of Deglycosylation 2 |
|
Dysphagia, Reduced social reciprocity |
OMIM:619775 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
| Isolated Complex I Deficiency |
|
Leukodystrophy, Ataxia |
ORPHA:2609 |
| Hurler Syndrome |
|
Abnormal CNS myelination |
OMIM:607014 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Leukodystrophy |
ORPHA:370997 |
| Trichothiodystrophy |
|
Gait ataxia, Reduced social reciprocity, Cerebral dysmyelination |
ORPHA:33364 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di... |
OMIM:614756 |
| Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Excessive shyness, Impulsivity |
OMIM:301030 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... |
ORPHA:404448 |
| Wiedemann-Steiner Syndrome |
|
Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:319182 |
| Nmda Receptor Encephalitis |
|
Mania, Depression, Chorea, Motor stereotypy, Choreoathetosis, Agitation, Hypersexuality |
ORPHA:217253 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, Dysmetria, CNS demyelination, Gliosis, Ataxia, Truncal ataxia, Dysphagia |
OMIM:220111 |
| Mend Syndrome |
|
Aggressive behavior, Hyperactivity, Abnormal social behavior |
ORPHA:401973 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Emotional lability, Red... |
ORPHA:293987 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Motor stereotypy |
ORPHA:508533 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Leukodystrophy, Ataxia |
OMIM:612199 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... |
ORPHA:353281 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Leukodystrophy |
OMIM:616538 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy |
ORPHA:464311 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... |
ORPHA:363958 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Gait disturbance, Motor stereotypy, Hyperactivity |
ORPHA:464306 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... |
ORPHA:353277 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, CNS demyelination |
ORPHA:769 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Motor stereotypy |
OMIM:301040 |
| Kinsship Syndrome |
|
Bruxism, Motor stereotypy |
OMIM:619297 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Leukodystrophy |
ORPHA:79124 |
| Aicardi-Goutières Syndrome |
|
Difficulty walking, Irritability, Leukodystrophy, Demyelinating peripheral neuropathy |
ORPHA:51 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukodystrophy, Ataxia |
OMIM:252010 |
| Peroxisome Biogenesis Disorder 1B |
|
Leukodystrophy |
OMIM:601539 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Moto... |
ORPHA:580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Motor stereotypy |
OMIM:301066 |
| Williams Syndrome |
|
Depression, Gait imbalance, Overfriendliness, Dysmetria, Attention deficit hyperactivity disorder... |
ORPHA:904 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:468631 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Motor stereotypy |
OMIM:616682 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Difficulty walking, Gait ataxia, Reduced social reciprocity |
ORPHA:457359 |
| Arboleda-Tham Syndrome |
|
Gait imbalance, Motor stereotypy, Dysphagia |
OMIM:616268 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Depression, Attention deficit hyperactivity disorder, Compulsive behavio... |
ORPHA:534 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
CNS demyelination |
OMIM:620024 |
| Ogden Syndrome |
|
Motor stereotypy, Dysphagia, Irritability |
OMIM:300855 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Polyphagia, Gait disturbance, Dysphagia, Motor stereotypy |
ORPHA:1606 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Oppositional defiant disorder, Self-mutilation, Reduced social reciprocity, Aggressive behavior, ... |
OMIM:607872 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Hyperactivity |
OMIM:309590 |
| Primrose Syndrome |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxia, T... |
OMIM:259050 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy |
OMIM:301044 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Motor stereotypy |
OMIM:612474 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Reduced social reciprocity... |
ORPHA:2152 |
| 17Q11 Microdeletion Syndrome |
|
Glioma, Reduced social reciprocity, Optic nerve glioma, Brainstem glioma, Cerebellar glioma |
ORPHA:97685 |
| Coffin-Siris Syndrome 12 |
|
Motor stereotypy |
OMIM:619325 |
| Lowe Oculocerebrorenal Syndrome |
|
Aggressive behavior, Motor stereotypy |
OMIM:309000 |
| Norrie Disease |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Irritability |
ORPHA:649 |
| Wolf-Hirschhorn Syndrome |
|
Motor stereotypy |
OMIM:194190 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia |
OMIM:619522 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Motor stereotypy |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Motor stereotypy |
ORPHA:261552 |
| 46,Xy Sex Reversal 8 |
|
|
OMIM:614279 |
