Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
Episodic Ataxia, Type 8 |
|
Ataxia, Slurred speech, Episodic ataxia, Muscle weakness, Intention tremor |
OMIM:616055 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... |
OMIM:601382 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Waddling gait, Distal muscle weakness, Ataxia, Elevated circulating creatine kinase concentration... |
OMIM:617882 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment |
OMIM:620270 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Upper limb muscl... |
ORPHA:206443 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... |
ORPHA:599373 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor |
OMIM:614278 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myocl... |
OMIM:615924 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tre... |
ORPHA:101078 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Muscle weakness |
ORPHA:1171 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Ataxia, Incoordination, Hearin... |
OMIM:616688 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Abnormal auditory evoked potentials, Proximal muscle weakness, Decreased ... |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity, Bruxism, Aggressive behavior |
OMIM:615493 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Impaired proprioception, Hand tremor, Gait at... |
ORPHA:101085 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Tremor, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Poor head control, Facial palsy, Sensorineural hearing impai... |
OMIM:617519 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... |
OMIM:239500 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... |
OMIM:300983 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... |
OMIM:618718 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ... |
ORPHA:500180 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... |
ORPHA:100973 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Upper limb muscle weakness, Choreoathetosis, Hypertonia, Loss of ambulation, Basal g... |
ORPHA:225154 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Gait disturbance, Pr... |
OMIM:125250 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Distal muscle weakness, Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Ba... |
ORPHA:504476 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Acroparesthesia, Somatic sensory dysfunction, Ata... |
ORPHA:206448 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... |
ORPHA:382 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal... |
OMIM:601596 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... |
OMIM:619470 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv... |
ORPHA:845 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te... |
OMIM:618598 |
Myopathy With Extrapyramidal Signs |
|
Clonus, Elevated circulating creatine kinase concentration, Tremor, Gowers sign, Chorea, Choreoat... |
OMIM:615673 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysmetria, Dysdiadochokinesis,... |
OMIM:617145 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... |
OMIM:616881 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:234500 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Speech apraxia, Hyperactivity, EEG with frontal focal spikes, Impulsi... |
ORPHA:98818 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Dysmetria, Limb ataxia, Hand tremor, Dysphagia, T... |
ORPHA:276198 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Decreased succinic semialdehyde dehydrogenase level, ... |
OMIM:271980 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Poor head control, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, D... |
ORPHA:13 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Progressive external ophthalmoplegia, Ataxia, Limb-girdle mu... |
ORPHA:1215 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls, Tinnitus |
OMIM:617691 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Increased LDL chole... |
OMIM:277460 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Poor head control, Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, ... |
ORPHA:280219 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Splen... |
OMIM:617302 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Impaired visually enhanced vestibulo-ocular ... |
ORPHA:95 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Focal EEG d... |
ORPHA:3077 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Vertigo, Slurred speech, Dysmetria, Dysphagia, Progressive cerebellar ata... |
OMIM:183086 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Hypouricemi... |
ORPHA:760 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Myoc... |
ORPHA:2382 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Myoclonus |
OMIM:605899 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Poor head control, Hyperactivity, Ataxia, EEG with burst suppr... |
OMIM:619913 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Poor head control, Lower limb spasticity, Abnorma... |
ORPHA:206436 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Dystonia, Ataxia, Spastic tetraparesis, Impulsivity, Cerebellar gliosis, Unsteady ... |
ORPHA:35069 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Clonus, Proximal muscle weakness, Aggressive behavior, U... |
OMIM:617773 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing... |
OMIM:609727 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ... |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... |
ORPHA:320406 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... |
ORPHA:43 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529808 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Babinski sign, Opt... |
OMIM:612674 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:529799 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Reduced beta-hexosaminidase activi... |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
|
Poor head control, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnorma... |
OMIM:272750 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Aggressiv... |
OMIM:261600 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency ... |
ORPHA:1929 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Hyperactivity, Ataxia, Aggressive behavior... |
ORPHA:168491 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration, Chorea... |
ORPHA:52503 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, EEG... |
ORPHA:1942 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Spastic tetraple... |
OMIM:617864 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Decreased circulating cortisol level, Hyperactivity, Ataxia, Spastic tetra... |
ORPHA:139396 |
Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Abnormal motor evoked potentials, Gliosis, Ataxia, Parkinsonism, Gait di... |
ORPHA:909 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormal repetitive mannerisms, Sel... |
OMIM:182290 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Distal muscle weakness, Aganglionic megacolon, ... |
OMIM:609136 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Spasticity, Hearing impairment |
ORPHA:457260 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxi... |
OMIM:610217 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Optic atrophy,... |
OMIM:609541 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... |
OMIM:614104 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia |
OMIM:222765 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... |
ORPHA:98794 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, EEG with generalized polyspikes, Ag... |
ORPHA:163681 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Low-... |
OMIM:103050 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... |
OMIM:608643 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Lower limb spasticity, Ataxia... |
ORPHA:90321 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Poor head control, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Mic... |
OMIM:616977 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... |
OMIM:619260 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... |
ORPHA:2388 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Hyperlysinemia |
|
Abnormal circulating enzyme concentration or activity, Neck hypertonia, Hyperactivity, Poor motor... |
ORPHA:2203 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Optic atrophy, Spasti... |
OMIM:617281 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Tay-Sachs Disease |
|
Poor head control, Hypertonia, Exaggerated startle response |
OMIM:272800 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Bulbar palsy, Exaggerated startle response, Rigidity, Sensorin... |
ORPHA:521426 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Myoclonus... |
ORPHA:309155 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials |
OMIM:617523 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia |
OMIM:184850 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Hearing impairment, Tremor, Fasciculations, Limb hypertonia |
OMIM:620327 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... |
OMIM:617600 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Limb tremor, Clumsiness, EEG abnormality, Progressive ga... |
OMIM:105830 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abnormal eating behavior,... |
ORPHA:209905 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Bulbar palsy, Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Op... |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Decreased beta-galactosidase activity, Abnormal... |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears, Dysphagia |
OMIM:617301 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, EEG with burst suppression,... |
OMIM:615574 |
Arthrogryposis, Distal, Type 2A |
|
Muscle weakness, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Early Infantile Epileptic Encephalopathy |
|
Poor head control, Hyperactivity, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathet... |
ORPHA:1934 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Trisomy 10P |
|
Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with ... |
ORPHA:171929 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Tongue fasciculations |
OMIM:608800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:253800 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Progressive spastic quadriplegia, Hyperargininemia, Spas... |
OMIM:207800 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Dysphagia, Hypsarrhythmia, Protruding... |
ORPHA:447997 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... |
OMIM:614756 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Hypertonia, Dysphagia, Spasticity, EEG with generalized slow activity |
OMIM:618367 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... |
ORPHA:642 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Involuntary movement... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... |
OMIM:619522 |