Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Ataxia, Muscle weakness, Slurred speech, Intention tremor |
OMIM:616055 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Proximal muscle weakness, Decreased motor nerve conduction velocity, Abnormal auditory evoked pot... |
OMIM:601382 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Late-Infantile/Juvenile Krabbe Disease |
|
Upper motor neuron dysfunction, Difficulty walking, Frequent falls, Acroparesthesia, Upper limb m... |
ORPHA:206443 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Spasticity, Sensorineural hearing impairment, Proximal muscle weakness, Gowers sign, Gait disturb... |
OMIM:617882 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Muscle weakness, Dysphagia, Dystonia |
ORPHA:1171 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Hyperactivity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hype... |
OMIM:615924 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Proximal muscle weakne... |
OMIM:616688 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Distal muscle weakness, Tremor, Decreased nerv... |
ORPHA:101078 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... |
ORPHA:320401 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Ophthalmoplegia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dy... |
ORPHA:276193 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Mohr-Tranebjaerg Syndrome |
|
Prelingual sensorineural hearing impairment, Optic atrophy, Inability to walk, Babinski sign, Dys... |
ORPHA:52368 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... |
OMIM:616053 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Spasticity, Ataxia |
ORPHA:99852 |
Charcot-Marie-Tooth Disease Type 1F |
|
Somatic sensory dysfunction, Inability to walk, Optic nerve hypoplasia, Steppage gait, Unsteady g... |
ORPHA:101085 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Gait disturbance, Distal muscle weakness, Decreased nerve co... |
OMIM:601455 |
Adult Krabbe Disease |
|
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, EEG abno... |
ORPHA:206448 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Impaire... |
ORPHA:99014 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Spasticity, Ophthalmoplegia, Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance... |
OMIM:125250 |
Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Choreoathetosis, Babinski sign, Frequent falls, Hypertonia, Dysphagia, Upper limb ... |
ORPHA:225154 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Proximal muscle weakness, Decreased motor nerve conduction velocity, Distal muscle weakness, Diff... |
OMIM:601596 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Gait ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Optic atrophy, Babinski sign, ... |
ORPHA:504476 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... |
ORPHA:99027 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalan... |
OMIM:612716 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Hypsarrhythmia, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Spasticity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology |
OMIM:300983 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Hyperactivity, Spasticity, Abnormal pyramidal sign, EEG abnormality, Inabili... |
ORPHA:500180 |
Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Ataxia, EEG abnormality |
OMIM:239500 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Optic atrophy, Inability to walk, Hepatosplenomegaly, Frequent fall... |
ORPHA:845 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, D... |
ORPHA:248111 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Myopathy With Extrapyramidal Signs |
|
Hyperlysinemia, Proximal muscle weakness, Optic atrophy, Gowers sign, Choreoathetosis, Elevated h... |
OMIM:615673 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast... |
OMIM:618598 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Truncal ataxia, Hand tremor, Limb ataxia, Ataxia, Vertigo, Babinski sign, Dysmetr... |
ORPHA:276198 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Chorea, Restlessness, Falls, Hyperkinetic movements, Rigidity, Hypsarrhythmia, Oculogyric crisis,... |
ORPHA:13 |
Cln5 Disease |
|
Hyperactivity, Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, EEG with focal ... |
ORPHA:228360 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Hypertonia |
OMIM:234500 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Spasticity, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s... |
OMIM:616881 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyr... |
ORPHA:382 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Limb-girdle muscle weakness, Sensorineural hearing impairment, Optic ... |
ORPHA:1215 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Clumsiness, Gait dist... |
OMIM:277460 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Spasticity, EEG abnormality, Inability to walk, Muscle weakness, Tremor, Low-set ears |
OMIM:618718 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment, Decreased beta-mannosidase activity |
OMIM:248510 |
Friedreich Ataxia |
|
Gait ataxia, Chorea, Poor fine motor coordination, Spasticity, Gait imbalance, Falls, Impaired vi... |
ORPHA:95 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Spastic tetraparesis, Tremor, Broad-based gait |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Spinocerebellar Ataxia 6 |
|
Truncal ataxia, Incoordination, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Dysmetria, Slu... |
OMIM:183086 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormal... |
ORPHA:98818 |
Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Splenomegaly, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasi... |
OMIM:617302 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... |
OMIM:619405 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal T cell morphology, Sensorineural hearing impairment, Spasticity, Cerebral... |
ORPHA:760 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Abnormality of peripheral nerve conduction, Spasticity, Abnormal pyramidal sign, O... |
ORPHA:35069 |
Fraxe Intellectual Disability |
|
Hyperactivity, Clumsiness, Agitation, Prominent ear helix, Impulsivity |
ORPHA:100973 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Spastic tetraplegia, EEG with polyspike wave complexes, EEG with burst suppression... |
OMIM:619913 |
Infantile Krabbe Disease |
|
Spasticity, Ankle clonus, Opisthotonus, Optic atrophy, Spastic diplegia, Myoclonus, Abnormal circ... |
ORPHA:206436 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, EEG abnormality, Elevated circulating gamma-aminobutyric acid concentration, Ataxi... |
OMIM:271980 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increase... |
ORPHA:3240 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment, Upper limb spasticity, Spastic paraplegia, Babin... |
OMIM:609727 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Ophthalmoparesis, Truncal ataxia, Involuntary mov... |
ORPHA:101 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor m... |
ORPHA:363400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Reduced dihydropyrimidine dehydrogenase level, Hypertonia, Tetraplegia |
OMIM:274270 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Spasticity, Proximal muscle weakness, EEG abnormality, Hypsarrhythmia, Babinski si... |
OMIM:617773 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Myoclonus, Impulsivity, Restlessness |
OMIM:605899 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Exaggerated star... |
ORPHA:320406 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, EEG abnormality, Myoclonus, EEG with focal sharp slow waves |
ORPHA:2382 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... |
ORPHA:529799 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... |
OMIM:301008 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Spasticity, Sensorineural hearing impairment, Optic atrophy, Ataxia, Babinski sign, Dysmetria, De... |
OMIM:612674 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Broad... |
ORPHA:3077 |
Sandhoff Disease |
|
Exaggerated startle response, Spasticity, Reduced beta-hexosaminidase activity, Upper motor neuro... |
OMIM:268800 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, Hemiparesis, Hemidys... |
ORPHA:1929 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia |
ORPHA:163985 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Hyperactivity, Ankle clonus, Limb myoclonus, Inability to walk, Hemiparesis, Oculo... |
ORPHA:139396 |
Aminoacylase 1 Deficiency |
|
Muscle weakness, Hyperactivity, Sensorineural hearing impairment |
OMIM:609924 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Exaggerated startle response, Macrotia, Spasticity, Inability to walk, Spastic tetraplegi... |
OMIM:617864 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Hyperactivity, Spasticity, Dysdiadochokinesis, Optic atrophy, Babinski sign,... |
OMIM:610217 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Abnormal pyramidal sign, EEG with polyspike wave complexes, Interictal epileptifor... |
ORPHA:1942 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hyperactivity, Progressive spastic paraparesis, Progressive hearing ... |
ORPHA:43 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Optic atrophy, Inability to walk, Spastic paraplegia,... |
OMIM:609541 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Sensorineural hearing impairment, Spastic tetraplegia, Absent brainstem auditory resp... |
OMIM:609136 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Optic nerve hypoplasia |
OMIM:222765 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Abnormal auditory evoked potentials, Aganglionic megacolon, Polyc... |
OMIM:600501 |
Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Optic atrophy, Abnormal auditory evoked potentials, Babinski sign, S... |
ORPHA:909 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, EEG abnormality, Ataxia, Polyphagia, Broad-based gait |
ORPHA:411515 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration... |
ORPHA:52503 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Agitation, Truncal titubation, Dysmet... |
OMIM:618056 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Spasticity, Hyperactivity, Hearing impairment, Broad-based gait |
ORPHA:457260 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Tetraparesis, Opti... |
OMIM:619260 |
Cockayne Syndrome Type 1 |
|
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... |
ORPHA:90321 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Inability to walk, Rigidity, Choreoathetosis, Hypertonia |
OMIM:620023 |
Hyperlysinemia |
|
Hyperlysinemia, Hyperactivity, Hypoornithinemia, Hypoplastic helices, Tip-toe gait, Spastic diple... |
ORPHA:2203 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Hyperactivity, EEG with generalized slow activity grade 4, EEG with series of... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Exaggerated startle response, Myoclonus, Clonus |
OMIM:618201 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment, Inability to walk |
OMIM:620114 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Abnormal pyramidal sign, Optic atrophy, Tetraplegia, Hearing impairment |
ORPHA:369939 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Microtia, Ataxia, Impulsivity, Attached earlobe, Poor head control, Dystonia |
OMIM:616977 |
Tay-Sachs Disease |
|
Poor head control, Exaggerated startle response, Hypertonia |
OMIM:272800 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, EEG abnormality, Myoclonus, Ataxia, EEG with abnormally slow frequ... |
ORPHA:98794 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Spasticity, Reduced beta-hexosaminidase activity, Myoclonus, Hepato... |
ORPHA:309155 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Limb hypertonia, R... |
ORPHA:521426 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hyperactivity, Elevated hepatic transaminase, Acute hyperammonemia, Tremor,... |
ORPHA:247585 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Frequent falls |
OMIM:617523 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Spastic tetraplegia, Limb hypertonia, EEG with burst supp... |
OMIM:615574 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus, Hypertonia |
OMIM:614619 |
Adenylosuccinase Deficiency |
|
Gait ataxia, Hyperactivity, Spasticity, Inability to walk, Myoclonus, Hemiplegia, Low-set ears, O... |
OMIM:103050 |
Hyperekplexia 3 |
|
Exaggerated startle response, Myoclonus, Hypertonia |
OMIM:614618 |
Brain-Lung-Thyroid Syndrome |
|
Chorea, Hyperactivity, Sensorineural hearing impairment, Falls, Involuntary movements, Apraxia, C... |
ORPHA:209905 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus |
OMIM:184850 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, External ear malformation, Dystonia, Broad-based gait |
ORPHA:438216 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Blepharospasm, Bradykinesia, Spasticity, Optic atrophy, Akinesia, Abnormal pyramid... |
OMIM:234200 |
Hyperekplexia 1 |
|
Exaggerated startle response, Frequent falls, Myoclonus, Hypertonia |
OMIM:149400 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Abnormal pyramidal sign, Optic atrophy, Rigidity, Abnormality of ex... |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Pitt-Hopkins-Like Syndrome 1 |
|
Spasticity, Hyperactivity, EEG abnormality, Ataxia, Attention deficit hyperactivity disorder |
OMIM:610042 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Exaggerated startle response |
OMIM:618367 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Macrotia, Spasticity, Decreased beta-galactosidase activity, Abnorm... |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Clonus, Hypertonia, Dysphagia, Low-set ears |
OMIM:617301 |
Choreoacanthocytosis |
|
Blepharospasm, Limb dystonia, Abnormal autonomic nervous system physiology, Elevated circulating ... |
ORPHA:2388 |
Arthrogryposis, Distal, Type 2A |
|
Muscle weakness, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, EEG with generalized epileptiform discharges, Cerebral palsy, EEG with focal spike... |
ORPHA:163681 |
Angelman Syndrome |
|
Hyperactivity, EEG abnormality, Progressive gait ataxia, Clumsiness, Limb tremor, Broad-based gait |
OMIM:105830 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Spasticity, EEG abnormality, EEG with burst suppression, Hypsarrhythmia, Myoclonus... |
ORPHA:1934 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Gait distur... |
OMIM:216400 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Mus... |
OMIM:133540 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... |
ORPHA:79330 |
Mend Syndrome |
|
Hyperactivity, Limb hypertonia, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, E... |
ORPHA:401973 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked potentials, Abnor... |
ORPHA:171929 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Exaggerated startle response |
OMIM:608800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Muscle weakness, Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinas... |
OMIM:253800 |
Argininemia |
|
Hyperactivity, Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Hyperammonemi... |
OMIM:207800 |
Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Attention deficit hyperactivity disorder, Xanthelasma, O... |
ORPHA:137605 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:424 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Gait ataxia, Hyperactivity, Hand tremor, Protruding ear, Ataxia, Short ear, Dysmetria, Poor gross... |
OMIM:614756 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunction, Hyperactivity,... |
ORPHA:642 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Anemia, Inability to walk, Involuntary movements, Myoclonus, Decrea... |
ORPHA:438213 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Exaggerated startle response, Microtia, Attention deficit hyperactivity disorder, ... |
OMIM:619522 |