Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... |
OMIM:301008 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dystonia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity |
OMIM:620270 |
Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Tremor, Hypsarrhythmia, Hyperactivity, Multifocal epileptif... |
ORPHA:599373 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity |
OMIM:617113 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Hyperprolinemia, Type I |
|
EEG abnormality, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Focal EEG discharges with secondary generalizatio... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia |
OMIM:301107 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Glycine Encephalopathy 1 |
|
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Abnormal pinna morphology |
OMIM:300983 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Low-set ears, Bruxism, Tremor, Motor stereotypy, Hyperactivity, EEG abno... |
OMIM:618718 |
Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity |
OMIM:234500 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Hearing impairment, Pseudobulbar paralysis |
ORPHA:208441 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
Lennox-Gastaut Syndrome |
|
Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with focal sharp slow waves |
ORPHA:2382 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Depression, EEG with generalized epileptiform discharges, Continuo... |
ORPHA:98818 |
Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Hearing impairment |
OMIM:248510 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... |
ORPHA:206443 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Tremor |
OMIM:615924 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ag... |
OMIM:619827 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Hyperactivity |
OMIM:617169 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia |
OMIM:615541 |
Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Continuous spike and waves during slow sleep, Increased theta frequency activity in... |
ORPHA:1929 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Aggressive behavior, EEG abnormality, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
ORPHA:500180 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormali... |
OMIM:301013 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Myoclonic-Astatic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polyspike wav... |
ORPHA:1942 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation |
OMIM:615516 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, EEG with generalized epileptiform discharges, Low frustration tolerance... |
ORPHA:163681 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, Obsessive-co... |
ORPHA:168491 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... |
OMIM:608643 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... |
OMIM:617302 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
Developmental And Epileptic Encephalopathy 103 |
|
Continuous spike and waves during slow sleep, EEG with burst suppression, EEG with polyspike wave... |
OMIM:619913 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Hearing impairment, Exaggerated startle response |
OMIM:620114 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hypsarrhythmia, Hyperactivity |
OMIM:619239 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... |
ORPHA:101085 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Recurrent ... |
ORPHA:449291 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Mo... |
OMIM:610042 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Depression, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... |
ORPHA:909 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Macrotia, Irritability, EEG with generalized slow activity, Exaggerated startle response, Optic n... |
OMIM:617864 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
EEG with burst suppression, Agitation, Irritability, Hypsarrhythmia, Hyperactivity, Exaggerated s... |
OMIM:620423 |
X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Aganglionic megacolon, Hyperactivity, Dystonia, Athetosis |
ORPHA:52503 |
Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, EEG abnormality, Hyperactivity, Exaggerated startle response, Macrotia |
OMIM:617281 |
Stiff-Person Syndrome |
|
Opisthotonus, Depression, Exaggerated startle response |
OMIM:184850 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Dystonia, Choreoathetosis |
OMIM:612716 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Emotional lability, Hyperactivity, Dystonia, Dysphagia, Intention tremor, Impulsivity |
OMIM:610217 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Tay-Sachs Disease |
|
Optic atrophy, Depression, Hearing impairment, Laryngeal dystonia, Tremor, Dysphagia, Exaggerated... |
ORPHA:845 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Hyperactivity, Agitation |
ORPHA:99819 |
Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... |
ORPHA:79330 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... |
ORPHA:90321 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response |
OMIM:617301 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Emotional lability, Self-mutilation, Hyperact... |
OMIM:256800 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Dysphagia, Low vol... |
ORPHA:171929 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... |
ORPHA:521426 |
Mend Syndrome |
|
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity |
ORPHA:401973 |
Asparagine Synthetase Deficiency |
|
EEG with burst suppression, Tremor, Irritability, Simple ear, Hypsarrhythmia, Exaggerated startle... |
OMIM:615574 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Hyperactivity, Agitation |
ORPHA:424 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Choreoacanthocytosis |
|
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Lingual dystonia, Dysphagia, Soc... |
ORPHA:2388 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... |
OMIM:133540 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... |
OMIM:216400 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Optic atrophy, Blepharospasm, Depression, Obsessive-compulsive trait, Tremor, Motor ... |
OMIM:234200 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears |
OMIM:617527 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
EEG with generalized slow activity, Dysphagia, Exaggerated startle response, Irritability |
OMIM:618367 |
Gm1 Gangliosidosis Type 1 |
|
Hirsutism, Exaggerated startle response |
ORPHA:79255 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Exaggerated startle response |
OMIM:620451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated ... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Stereotypical hand wringing, Exaggerated startle response, Optic disc pallor, Dystonia, Dysphagia |
ORPHA:438213 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment |
OMIM:614944 |