Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220200 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Progressive leukoencephalopathy, Ataxia, Babinski sign, Hand tremor, Leukoenc... |
OMIM:615889 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Lissencephaly 4 |
|
Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo... |
OMIM:614019 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... |
ORPHA:171703 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... |
OMIM:619054 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Gait disturbance |
ORPHA:98766 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Spastic tetraplegia, Hypoplasia of th... |
OMIM:611603 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Oro... |
ORPHA:300573 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Lower limb spasticity, Agenesis of cerebellar vermis, Babinski sign, Unsteady gait, Distal sensor... |
OMIM:620106 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypertonia, Cerebellar... |
OMIM:617090 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619501 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Hand tremor, Limb a... |
OMIM:607596 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Spastic diplegia, Periventricular cysts, Cerebral a... |
ORPHA:255182 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... |
ORPHA:453521 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Masa Syndrome |
|
Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturbance, Agenesis of corpus callosum, Ventri... |
ORPHA:2466 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... |
OMIM:615625 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... |
ORPHA:401815 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Microcephaly, Head titubation, Simplified gyral patte... |
OMIM:620208 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasi... |
OMIM:618266 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog... |
OMIM:600348 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Dysplastic c... |
OMIM:618276 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic M... |
ORPHA:363717 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Ataxia-Telangiectasia-Like Disorder |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph... |
ORPHA:171680 |
Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c... |
OMIM:616540 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Latera... |
ORPHA:77299 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spastic tetraplegia, Simplified gyral pat... |
OMIM:619302 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy... |
ORPHA:101071 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Cerebellar hypo... |
OMIM:304100 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Megalencephaly, Diffuse white matter abnormali... |
OMIM:613925 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Cerebellar calcifications, Rigidity, Basal ganglia calcification, Babinski sign, Li... |
OMIM:618824 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Progressive microcephaly, Hyp... |
OMIM:613402 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ... |
OMIM:620315 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Dysgyria, Oculomotor ... |
ORPHA:467166 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainste... |
OMIM:619301 |
Martsolf Syndrome 2 |
|
Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
OMIM:619420 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Ataxia, Small for gestational age, Microcephaly, Inability to walk,... |
ORPHA:79243 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly |
OMIM:616570 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ataxia, Spastic tetraparesis, Microcephaly, Inability to walk, Hypoplasia of the brainstem, Progr... |
OMIM:616486 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Hypoplasia of the brains... |
OMIM:618730 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Hypertonia, Olivopontocerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2732 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal den... |
OMIM:619517 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:183090 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:615960 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypertonia, Inferior cerebellar ... |
OMIM:618959 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebel... |
ORPHA:255138 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Masa Syndrome |
|
Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai... |
OMIM:303350 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebral calcification, Postural tremor, Parkinsonism, Cerebellar calcifications, Basal ganglia c... |
OMIM:615483 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g... |
OMIM:615095 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Failure to thrive in infancy, Spastic tetraparesis, Simplified gyra... |
ORPHA:284417 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer... |
OMIM:617668 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Appendicular spasticity, Inability to walk, Periventricular leukomalacia, Age... |
OMIM:618324 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Spinocerebellar Ataxia Type 12 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Inability to walk, Abnormal cerebral white matter morphology, Lateral v... |
OMIM:613443 |
Urocanase Deficiency |
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Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
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Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ... |
OMIM:607317 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
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Ataxia, Microcephaly, Cerebellar hypoplasia, Spasticity, Ventriculomegaly |
OMIM:618383 |
Spinocerebellar Ataxia Type 20 |
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Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Cerebra... |
ORPHA:101110 |
Alg13-Cdg |
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Abnormal lateral ventricle morphology, Decreased body weight, Global brain atrophy, Clumsiness |
ORPHA:324422 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum atrophy, Abnormal cer... |
ORPHA:565624 |
Lissencephaly, X-Linked, 1 |
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Ataxia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Dystonia 11, Myoclonic |
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Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the... |
OMIM:618890 |
Spinocerebellar Ataxia 38 |
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Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Myoclonus, Cerebellar Ataxia, And Deafness |
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Ataxia, Myoclonus |
OMIM:159800 |
Dystonia 23 |
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Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
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Agenesis of corpus callosum, Ataxia |
ORPHA:85334 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalance, Cerebella... |
ORPHA:488635 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath... |
OMIM:221770 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Hem... |
OMIM:617542 |
Dystonia, Dopa-Responsive |
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Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene... |
OMIM:618736 |
Episodic Kinesigenic Dyskinesia 3 |
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Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Pontocerebellar Hypoplasia, Type 13 |
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Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk, Gait ataxi... |
OMIM:618606 |
Polyrrhinia |
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Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce... |
OMIM:613153 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
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Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Cerebellar hypoplasia, Hypopla... |
OMIM:619072 |
Spinocerebellar Ataxia 12 |
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Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Juvenile Huntington Disease |
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Cerebellar atrophy, Ventriculomegaly, Broad-based gait, Ataxia, Neuronal loss in basal ganglia, R... |
ORPHA:248111 |
Tremor, Hereditary Essential, 2 |
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Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Pontocerebellar Hypoplasia, Type 11 |
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Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Poor coordinat... |
OMIM:617695 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Optic nerve hypoplasia, O... |
ORPHA:370959 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
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Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Progressive microcephaly, Hypopla... |
OMIM:617862 |
Joubert Syndrome 3 |
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Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, L... |
OMIM:608629 |
Machado-Joseph Disease Type 1 |
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Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276241 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Hyperintensity of cerebral... |
ORPHA:521406 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Sandhoff Disease, Adult Form |
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Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral pattern, Cerebral atr... |
OMIM:618492 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno... |
ORPHA:101070 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Dilated fourth ventricle, Small for gestational age, Microcephaly, Lateral ventricle dilatation, ... |
ORPHA:3078 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Abnormal cerebellum morphology, Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impai... |
OMIM:256850 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul... |
ORPHA:85179 |
Cach Syndrome |
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Cerebellar atrophy, Microcephaly, Spastic diplegia, Dysmetria, Limb ataxia, Hemiparesis, Cerebral... |
ORPHA:135 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Inability to walk, Unsteady gait, Spastic te... |
ORPHA:1947 |
Machado-Joseph Disease |
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Dilated fourth ventricle, Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Par... |
OMIM:109150 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Thin corpus callosum |
OMIM:620270 |
Spastic Ataxia 2, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
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Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Spastic Paraplegia 11, Autosomal Recessive |
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Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
OMIM:604360 |
Migraine, Familial Hemiplegic, 1 |
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Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
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Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly |
OMIM:618286 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
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Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Epilepsy, Progressive Myoclonic 7 |
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Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
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Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia 18 |
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Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py... |
OMIM:614833 |
Congenital Disorder Of Glycosylation, Type Iiy |
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Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... |
OMIM:620200 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked 103 |
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Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Lichtenstein-Knorr Syndrome |
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Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Primary Dystonia, Dyt2 Type |
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Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
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Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio... |
OMIM:617751 |
Microcephaly 16, Primary, Autosomal Recessive |
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Primary microcephaly, Simplified gyral pattern, Spastic tetraplegia, Decreased body weight, Spast... |
OMIM:616681 |
Leukodystrophy, Hypomyelinating, 11 |
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Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Fai... |
OMIM:616494 |
Autosomal Recessive Cutis Laxa Type 2A |
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Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic... |
ORPHA:357058 |
Dystonia 16 |
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Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Parkinson Disease 17 |
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Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spinocerebellar Ataxia, X-Linked 1 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi... |
OMIM:302500 |
Craniosynostosis 6 |
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Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Dand... |
OMIM:616602 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski... |
OMIM:164400 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Lissencephaly 6 With Microcephaly |
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Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte... |
OMIM:616212 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesi... |
ORPHA:1528 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc... |
ORPHA:73256 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,... |
OMIM:600118 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo... |
OMIM:607196 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Frequent falls, Agenesis of corpus callosum |
OMIM:618197 |
Microhydranencephaly |
|
Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:605013 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia |
ORPHA:284271 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Spastic tetraplegia, Eyelid ... |
ORPHA:208447 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Tetraplegia, Cer... |
OMIM:616034 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Hypoplasi... |
OMIM:617916 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Cere... |
ORPHA:168486 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276244 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Microcephaly, Inability to walk, Lateral ventricle dilatation, Thin corpus... |
OMIM:615716 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo... |
OMIM:615574 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Basal ganglia... |
OMIM:312170 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Tetraplegia, Hypertonia, Failure to thrive, Agenesis of corpus ca... |
OMIM:274270 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Leukoencep... |
OMIM:618387 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Primary microcephaly, Babinski s... |
OMIM:619847 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation... |
OMIM:614219 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Inability to walk, Unsteady gait, Thick corpus callosum, Simplified... |
OMIM:618273 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... |
ORPHA:300570 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Broad-based gait, Cerebral dysmyelination, Hypoplasia of the pons, Babins... |
OMIM:606854 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebell... |
OMIM:617669 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:610688 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Spastic paraplegia, Poor gross mot... |
OMIM:245349 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Basal ganglia calcification, Abnormal pyramidal sign, Bra... |
OMIM:213600 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ... |
OMIM:218670 |
Spinocerebellar Ataxia Type 2 |
|
Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Parkinsonis... |
ORPHA:98756 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Primary microcephaly, Partial agenesis of the corpus callosum, Vocal cord... |
ORPHA:500144 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum... |
OMIM:616171 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age, Microcephaly |
OMIM:619278 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Failure to thrive, Agene... |
OMIM:250620 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Spasticity, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:615286 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Poor fine motor coordination, Lateral ventricle dilatation |
OMIM:618330 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast... |
ORPHA:488627 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive, A... |
OMIM:618238 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... |
OMIM:620317 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Abnormal putamen morphology... |
ORPHA:157846 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
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Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s... |
OMIM:252650 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Babinski si... |
ORPHA:2524 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Ventriculomegaly |
OMIM:619561 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v... |
OMIM:617296 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... |
OMIM:617691 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spa... |
ORPHA:599373 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology... |
ORPHA:238722 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... |
OMIM:618088 |
Foxg1 Syndrome |
|
Pachygyria, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty wal... |
ORPHA:561854 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... |
OMIM:613154 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Paraparesis, Inability to... |
ORPHA:2822 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypertonia, Nonprogressive cerebellar ataxia, Primary... |
ORPHA:466688 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce... |
ORPHA:33445 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Failure to thrive in infancy, Spastic tetrapar... |
ORPHA:356961 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ... |
OMIM:613162 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... |
OMIM:618291 |
Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... |
ORPHA:542310 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Generalized dystonia, Microcephaly |
OMIM:619025 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of ... |
OMIM:619653 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydran... |
OMIM:225790 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly... |
OMIM:616531 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia... |
OMIM:616819 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive, Thin corpus callosum |
OMIM:619651 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul... |
ORPHA:2512 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Basal ganglia calcification, Abnormal pyramidal sign,... |
OMIM:618317 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, P... |
ORPHA:139485 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ... |
OMIM:607346 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Spasticity, Agenesis of corpus callosum |
OMIM:619548 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Abnormal cer... |
OMIM:614877 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p... |
OMIM:614409 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Epi... |
ORPHA:420179 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,... |
OMIM:300957 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Difficult... |
ORPHA:397725 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Behr Syndrome |
|
Cerebellar atrophy, Periventricular leukomalacia, Ataxia, Tremor, Babinski sign, Unsteady gait, D... |
OMIM:210000 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin... |
ORPHA:79264 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Cerebral palsy, Poor gross motor coordination, Lateral ventricle d... |
ORPHA:2148 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Dysgenesis of the basal ganglia, Babinski sign, Lissencephaly, Cerebellar hypoplasia, Pachygyria,... |
OMIM:620316 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor |
OMIM:620221 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opi... |
OMIM:620352 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Microcephaly, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to th... |
OMIM:619556 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Chiari Malformation Type Ii |
|
Ataxia, Hydrocephalus, Opisthotonus, Chiari malformation, Agenesis of corpus callosum |
OMIM:207950 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Failure to ... |
OMIM:618603 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea... |
OMIM:607136 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls, Intention tremor |
OMIM:619995 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Microcephaly, Agenesis of corpus callosum, Frontal cortical atrophy, Spasticity, Parietal cortica... |
OMIM:618766 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Holoprosencephaly 5 |
|
Lateral ventricle dilatation, Hydrocephalus, Microcephaly |
OMIM:609637 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Hypertonia, Secondary microcephaly, ... |
OMIM:613668 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Babinski sign, Leukoenceph... |
OMIM:618193 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... |
ORPHA:500166 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy... |
ORPHA:1532 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi... |
OMIM:617397 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum |
OMIM:300073 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Spasticity,... |
ORPHA:2182 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Iro... |
ORPHA:329284 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... |
ORPHA:79263 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Simplified gyral pat... |
OMIM:619470 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Severe temper tantrums, Polyhydramnios, Dysmetria, Gait ataxia, Atten... |
OMIM:614306 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Inability to walk, Hydrocephalus, Hypoplasia of the b... |
OMIM:613155 |
Hsd10 Disease |
|
Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait di... |
ORPHA:391417 |
Gillespie Syndrome |
|
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia, Thin corpus c... |
OMIM:206700 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Microcephaly, Poor coordination |
ORPHA:261183 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Tetraplegia, Spasticity, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:2508 |
Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum, Myoclonus |
OMIM:605899 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... |
ORPHA:98759 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic c... |
OMIM:620001 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor... |
OMIM:614105 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Hypertonia, Dec... |
OMIM:618346 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Inability to walk, Decreased thalamic volume, Abnormal basal ganglia morphology |
OMIM:618646 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Mild fetal ventriculomegaly, Agenesis of corpus callosum |
OMIM:610498 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi... |
ORPHA:59315 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:218350 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Corpus ca... |
ORPHA:228360 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria |
OMIM:616342 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D... |
OMIM:302800 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Striatal T2 hyperintensity, Progressive gait ataxi... |
ORPHA:289494 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... |
ORPHA:330050 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I malfo... |
OMIM:618476 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callos... |
ORPHA:544488 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... |
ORPHA:352403 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Failure to thrive, Absent septum pellucidum, Abno... |
ORPHA:397715 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Cog5-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Latera... |
ORPHA:263487 |
4Q21 Microdeletion Syndrome |
|
Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:238750 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Abnormal cerebral white matter morphology, Failure to thrive, Ataxia |
OMIM:618951 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine... |
OMIM:617013 |
Zaki Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Unsteady gait, Hypertonia, ... |
OMIM:619648 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Lewy bodies, Cerebr... |
OMIM:607485 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Hypoplasia of the ... |
OMIM:607694 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Neurofibrillary tangles, Limb ataxia, Gait at... |
OMIM:137440 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:610015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Cerebellar hypo... |
OMIM:615181 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Chiari type I malformation, Hypoplasia of the corpus callosum, Failure to thrive, Agenesis of cor... |
OMIM:613735 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor... |
OMIM:612438 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Leukoencephalopathy, Gait disturbance, Ven... |
OMIM:603472 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Microcephaly, Basal gang... |
OMIM:214150 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplas... |
ORPHA:89844 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V... |
OMIM:619074 |
Hogue-Janssen Syndrome 2 |
|
Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A... |
OMIM:616362 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Polyhydramnios, Tremor, Dehydration, Opisthotonus, Choreoathetosis, H... |
OMIM:616271 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br... |
OMIM:619306 |
Oculocerebrocutaneous Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation |
OMIM:164180 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus callosum, Cerebral palsy |
OMIM:618914 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Simplifie... |
OMIM:300749 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Ventricul... |
ORPHA:99742 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Delpire-Mcneill Syndrome |
|
Spasticity, Hypertonia, Agenesis of corpus callosum, Cortical dysplasia |
OMIM:619083 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Hypointensity of cerebral white... |
ORPHA:845 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Microcephaly, Tremor, Inability to walk, Overweight, Obesity, Late... |
OMIM:619229 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Abn... |
ORPHA:48818 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Distal Deletion 10Q |
|
Ataxia, Clonus, Microcephaly, Unsteady gait, Spasticity, Poor fine motor coordination, Lateral ve... |
ORPHA:96148 |
6Q25 Microdeletion Syndrome |
|
Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
ORPHA:251056 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal int... |
ORPHA:485421 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Involuntary m... |
ORPHA:83597 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Leukoencephalopathy, Dystonia... |
OMIM:611390 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysphagia, ... |
OMIM:614487 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly |
OMIM:619466 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Spastic tetraparesis, Microcephaly, Basal ganglia calcification, Spastic ... |
OMIM:619487 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... |
OMIM:619725 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia... |
ORPHA:220497 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Lissencephaly, X-Linked, 2 |
|
Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:300215 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly... |
OMIM:615249 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... |
OMIM:615491 |
Spinocerebellar Ataxia With Epilepsy |
|
Cerebral infarct, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokines... |
ORPHA:254881 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Dysphagia, Progressive cer... |
OMIM:183086 |
New-Onset Refractory Status Epilepticus |
|
Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Abnormal basal ganglia MRI signal i... |
ORPHA:363558 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Microcep... |
OMIM:312080 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Babinski sign, Cerebral atr... |
OMIM:615802 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... |
ORPHA:70595 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618577 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Microcephaly, Lateral ventricle dilatation, Hyp... |
OMIM:618367 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Rigidity, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myo... |
OMIM:619057 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly, ... |
OMIM:619869 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... |
ORPHA:276198 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a... |
OMIM:208920 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Inability to walk, Diffuse white matter abnormalities, Limb tremor, Agenesis of corpus ca... |
OMIM:218000 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614381 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Hy... |
ORPHA:477673 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... |
OMIM:212065 |
Fg Syndrome 3 |
|
Chiari type I malformation, Agenesis of corpus callosum |
OMIM:300406 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... |
OMIM:620075 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... |
OMIM:617710 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Encephalomalacia, Focal T2 hyperintense basal ganglia lesion, Agenesis o... |
ORPHA:506 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Dehydration, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Babinski sig... |
OMIM:616505 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic le... |
OMIM:613724 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Anorexia, Dehydration |
ORPHA:79312 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Cerebellar hypoplasia, Neonatal death, Spasticity, Ventriculomegaly |
OMIM:613730 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614583 |
Familial Cold Urticaria |
|
Dysesthesia, Polydipsia, Dehydration |
ORPHA:47045 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Apla... |
ORPHA:2570 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Microcephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:452 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly |
OMIM:618731 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunction, Paralysis, ... |
ORPHA:79139 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cere... |
OMIM:613150 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Chorea, Mild fetal ventriculomegaly, Athetosis, Cerebellar hypoplasia, Agenesis of corpus... |
OMIM:619435 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... |
ORPHA:86822 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia... |
ORPHA:220493 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Tremor, Hypoplasia of the corpus callosum, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Failure to thrive, Microcephaly, Tremor, Inability to ... |
OMIM:617988 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Microcephaly, Cer... |
OMIM:611209 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity |
OMIM:609260 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyra... |
OMIM:616051 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Abn... |
ORPHA:98755 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Spasticity, Agenesis of corp... |
OMIM:616239 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Ventri... |
OMIM:617281 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Chiari malformation... |
OMIM:609053 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Posterior atrophy of corpus callosum, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Cerebell... |
OMIM:619422 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Dysphagia |
OMIM:618958 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... |
ORPHA:280219 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Ventriculomegaly, Tremor, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Abnormal cer... |
OMIM:300354 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia, Dehydration |
ORPHA:178029 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, C... |
ORPHA:457279 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lis... |
OMIM:615287 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Hypoesthesia, Dysplastic corpus callosum, Obesity, Hemipare... |
OMIM:619737 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:615433 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Po... |
ORPHA:899 |
Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Microcephaly, Limb ataxia, Choreoathetosis, Difficulty walking, Dys... |
OMIM:617595 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Spasticity, Cerebellar hypoplasia |
OMIM:618810 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/Hypoplasia of the ... |
ORPHA:765 |
Bainbridge-Ropers Syndrome |
|
Microcephaly, Inability to walk, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corp... |
OMIM:615485 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Inability to walk, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Impai... |
ORPHA:254930 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Halperin-Birk Syndrome |
|
Inability to walk, Spastic tetraplegia, Colpocephaly, Hypertonia, Pseudobulbar paralysis, Failure... |
OMIM:618651 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walki... |
ORPHA:464738 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hy... |
ORPHA:468631 |
Weaver Syndrome |
|
Absent septum pellucidum, Slurred speech, Poor fine motor coordination, Lateral ventricle dilatat... |
OMIM:277590 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Microcephaly, Tremor, Hypoplastic anterior limbs of the internal capsule, Chorea,... |
OMIM:615673 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2... |
ORPHA:25 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus |
OMIM:612863 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Overweight, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilat... |
OMIM:619575 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Dandy-Walker malformation, Superior cerebellar dysplasia, Ventriculomegaly |
OMIM:617622 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Inability to walk, Hypoplasia of the brainstem, Progressive microcephaly, Difficulty walk... |
ORPHA:481152 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Periv... |
ORPHA:3008 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Thin corpus callosum, Spa... |
OMIM:619720 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Hemiplegia/hemiparesis, ... |
ORPHA:3157 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Small... |
ORPHA:2388 |
Temtamy Syndrome |
|
Hypertonia, Agenesis of corpus callosum, Thick corpus callosum, Ventriculomegaly |
OMIM:218340 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasi... |
OMIM:253800 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Edema, Dehydration, Agitation, Extrapyramidal dyskinesia, Oral aversion, Spasti... |
ORPHA:134 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cortical dysplasia, Lateral ventricle dilatation, Tip-toe gait, Dystonia |
OMIM:617557 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Hypoplasia of the corpus callo... |
OMIM:619479 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia, Clumsiness |
OMIM:619320 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Po... |
OMIM:619775 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... |
OMIM:614298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the ... |
OMIM:614643 |
Cystinosis |
|
Abnormal pyramidal sign, Dehydration, Gait disturbance, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:613001 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Chorea, Tremor, Ab... |
ORPHA:2131 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Cerebral white matter atrophy, Ataxia, Tremor, Rigidity, Cerebral ... |
OMIM:617186 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus, Dehydration |
OMIM:560000 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m... |
ORPHA:293725 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Absent septum pellucidum, Large for gestational age, Microcephaly, Abnorma... |
OMIM:300868 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, ... |
OMIM:304050 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular leukomalacia, Cerebral palsy, Ataxia, Microcephaly, Hydrocephalus, Colpocephaly, ... |
OMIM:619833 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor... |
ORPHA:206448 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the... |
ORPHA:314679 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi... |
OMIM:614924 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal gang... |
ORPHA:97355 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Abnormal putamen morphology, Spastic tetraplegia, Hypertonia, Gait disturbance, Spastic... |
ORPHA:88619 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Microcephaly, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance... |
ORPHA:457240 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr... |
ORPHA:1192 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions |
ORPHA:557003 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618619 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls |
OMIM:159950 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra... |
ORPHA:70594 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste... |
ORPHA:442835 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Subependymal Nodular Heterotopia |
|
Partial agenesis of the corpus callosum, Limb myoclonus, Focal cortical dysplasia, Acroparesthesi... |
ORPHA:101030 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Crome Syndrome |
|
Microcephaly, Cerebellar dysplasia |
OMIM:218900 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventricu... |
OMIM:243310 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Hydrocephalus, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosu... |
ORPHA:1812 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Tet... |
OMIM:257300 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Microcephaly, Opisthotonus, Lateral ventricle dilatation, Hypertonia, Failu... |
OMIM:614098 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300887 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Pachygyria, Hydrocephalus, H... |
OMIM:236670 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Dehydration |
ORPHA:28 |
Grubben-De Cock-Borghgraef Syndrome |
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Partial agenesis of the corpus callosum |
ORPHA:2101 |
Acromelic Frontonasal Dysplasia |
|
Choroid plexus cyst, Hypoplasia of the olfactory bulb, Retrocerebellar cyst, Agenesis of corpus c... |
ORPHA:1827 |
Hypermanganesemia With Dystonia 1 |
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Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Alexander Disease |
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Cerebral calcification, Ataxia, Clonus, Megalencephaly, Aqueductal stenosis, Tremor, Hydrocephalu... |
ORPHA:58 |
Classic Progressive Supranuclear Palsy Syndrome |
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Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Ataxia, Incoordination, Involuntary movements, Microcephaly, Chorea, Clumsiness, Choreo... |
ORPHA:209905 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... |
OMIM:606002 |
Charcot-Marie-Tooth Disease And Deafness |
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Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Desmosterolosis |
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Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Rigidity, Pachygyria, Hydroce... |
ORPHA:35107 |
Waisman Syndrome |
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Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Ventriculomegaly, Small for gestational age, Optic nerve hypoplasia, Microcephaly, Cerebellar hyp... |
OMIM:301056 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Abnormal pyramida... |
ORPHA:447753 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Reticular Dysgenesis |
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Dehydration |
ORPHA:33355 |
Vici Syndrome |
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Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Cerebellar hypopl... |
ORPHA:1493 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis... |
OMIM:619895 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Microcephaly, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Abnormal cerebral wh... |
ORPHA:314404 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
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Agenesis of corpus callosum, Microcephaly |
OMIM:619989 |
Emanuel Syndrome |
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Failure to thrive, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter ... |
ORPHA:96170 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Appendicular spasticity, Partial agenesis of the corpus callosum, Obesity, Apraxia, Oculomotor ap... |
OMIM:620250 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:261344 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:990 |
Marden-Walker Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... |
OMIM:248700 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Hydrocephalus, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Abnormality of the dienc... |
ORPHA:2720 |
Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Impaired pain sensation, Microcephaly, Gait ataxia, Agenesis of corpus ... |
ORPHA:1446 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
ORPHA:139471 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Maternal Uniparental Disomy Of Chromosome X |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Developmental And Epileptic Encephalopathy 46 |
|
Microcephaly, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1553 |
Curry-Jones Syndrome |
|
Megalencephaly, Hemimegalencephaly, Chiari type I malformation, Polymicrogyria, Agenesis of corpu... |
OMIM:601707 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
Septooptic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Obesity, Subcortical cerebral atrophy, Cerebral cortical ... |
ORPHA:96147 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Spast... |
OMIM:616449 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... |
OMIM:620327 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait |
ORPHA:3077 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Diff... |
ORPHA:282166 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
ORPHA:238769 |
Meningioma |
|
Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Reduced circ... |
ORPHA:2495 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... |
OMIM:620073 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Spasticity, Dehydration |
OMIM:251120 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly |
OMIM:618142 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
Desmosterolosis |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c... |
OMIM:602398 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Toriello-Carey Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... |
ORPHA:3338 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Anorexia, Spastic hemiparesis, Edema, Dehydration, Myoclonus, Spasticity |
ORPHA:20 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Tetraplegia, Cerebral atro... |
ORPHA:2396 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Harlequin Ichthyosis |
|
Self-injurious behavior, Dehydration |
ORPHA:457 |
Radio-Tartaglia Syndrome |
|
Ataxia, Microcephaly, Tremor, Obesity, Gait imbalance, Agenesis of corpus callosum |
OMIM:619312 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap... |
ORPHA:363722 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion, Ataxia |
OMIM:619046 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corpus callos... |
ORPHA:500159 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... |
ORPHA:228308 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Propionic Acidemia |
|
Dehydration, Limb hypertonia |
OMIM:606054 |
8P Inverted Duplication/Deletion Syndrome |
|
Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker... |
ORPHA:96092 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Obesity, Dysmetria, Gait ataxia, Abnormality of neuronal migration, ... |
ORPHA:75857 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Agenesis of corpus callosum, Spastic tetraplegia, Tetraplegia, Microcephaly |
OMIM:300004 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Unsteady gait, Hypoplasia of the corpus callosum, Gait a... |
OMIM:618109 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Choroid plexus cyst, Retrocerebellar c... |
OMIM:603671 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hy... |
OMIM:243910 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... |
OMIM:620113 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Microcephaly |
OMIM:612940 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:475 |
3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Abnormal thalamus morphology, Ataxia |
ORPHA:435638 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Small for gestational age, Pachygyria, Macrogyria, Athetosis, Colpocephaly, C... |
OMIM:614866 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... |
ORPHA:434179 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... |
OMIM:210710 |
Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Spastic diplegia, Microcephaly |
OMIM:619980 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:263520 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Microcephaly, Pachygyria, Dysplastic corpus callosum, Simplified gyral patt... |
OMIM:619179 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Periventricular leukomalacia, Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic co... |
ORPHA:500150 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Agenesis of corpus callosum |
OMIM:136760 |
Fumarase Deficiency |
|
Microcephaly, Choroid plexus cyst, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, ... |
OMIM:606812 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp... |
OMIM:243605 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o... |
OMIM:300896 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spastic paraplegia, Cerebral atrophy,... |
ORPHA:83629 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Microcephaly, Hydrocephalus, Anencephaly, Cerebral hypoplasia, Chiari m... |
OMIM:249000 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Microcephaly, Pachygyria, Inability to walk, Hypertonia, Hypoplasi... |
OMIM:613457 |
Intellectual Disability-Strabismus Syndrome |
|
Microcephaly, Gait disturbance, Hypoplasia of the corpus callosum, Spasticity, Failure to thrive,... |
ORPHA:363528 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Microcephaly, Tremor, Inabil... |
OMIM:615356 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Apert Syndrome |
|
Absent septum pellucidum, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventri... |
ORPHA:87 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:521308 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Small for gestational age, Microcephaly, Paresthesia, Abnormal thalamus morphology |
ORPHA:2959 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clonus, Cerebral white matter hypoplasia, Colpocephaly, Lower limb hypertonia, Hypoplasia of the ... |
ORPHA:477993 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Small for gestational age |
OMIM:620135 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... |
OMIM:617260 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissenceph... |
OMIM:617822 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi... |
ORPHA:563612 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu... |
OMIM:619512 |
Secondary Short Bowel Syndrome |
|
Polyphagia, Dehydration |
ORPHA:95427 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:457284 |
Pseudotrisomy 13 Syndrome |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum |
OMIM:264480 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal inte... |
ORPHA:444013 |
Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:612301 |
16P13.11 Microdeletion Syndrome |
|
Hypertonia, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly |
ORPHA:261236 |
Wolcott-Rallison Syndrome |
|
Ascites, Difficulty walking, Dehydration |
ORPHA:1667 |
Trichothiodystrophy |
|
Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Partial agenesis of the corp... |
ORPHA:33364 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Failure to thrive, Hypertonia, Microcephaly |
OMIM:604273 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Microcephaly, Abnormal hypothalamus morphology, Hypoplasia of olfactory tr... |
ORPHA:314621 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Agenesis of corpus callosum |
OMIM:613174 |
Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Cerebral cortical atrophy, Obesity, Microcephaly |
ORPHA:177907 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Myoclonus, Spasticity, Cere... |
ORPHA:309155 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Inability to walk, Colpocephaly, Dystonia, Fa... |
OMIM:620083 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... |
OMIM:620305 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... |
ORPHA:370997 |
Bohring-Opitz Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Failure to thrive, ... |
OMIM:605039 |
Endocrine-Cerebroosteodysplasia |
|
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Aplasia/Hypoplasia of the cerebell... |
OMIM:612651 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Microcephaly, ... |
ORPHA:168577 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration |
OMIM:602199 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Aicardi Syndrome |
|
Microcephaly, Hemiplegia/hemiparesis, Partial agenesis of the corpus callosum, Hypertonia, Aplasi... |
ORPHA:50 |
Bohring-Opitz Syndrome |
|
Microcephaly, Inability to walk, Lower limb hypertonia, Hypoplasia of the corpus callosum, Severe... |
ORPHA:97297 |
Immunodeficiency 49 |
|
Agenesis of corpus callosum, Spastic tetraplegia, Reduced cerebral white matter volume |
OMIM:617237 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small for gestational age, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker m... |
OMIM:619148 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Chorea, Abnormal periventricular w... |
ORPHA:1855 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Microcephaly, Agenesis of corpus callosum, Choroid plexus cyst |
OMIM:612337 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... |
ORPHA:502423 |
Cono-Spondylar Dysplasia |
|
Failure to thrive, Partial agenesis of the corpus callosum, Poor coordination |
ORPHA:420794 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:77298 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis, Hypoplasia of... |
OMIM:612164 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Sotos Syndrome |
|
Partial agenesis of the corpus callosum, Poor coordination, Increased body weight, Cavum septum p... |
OMIM:117550 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:217980 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia... |
OMIM:618820 |
Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ... |
OMIM:607426 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Hemiplegia, Cerebellar malformation, Failure to thrive, Agenesis of corpus callosum |
ORPHA:137675 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Melas |
|
Abnormal central motor function, Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal g... |
ORPHA:550 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hydrocephalus, Hydrops fetalis, Dehydration, Poor fine motor coordination |
ORPHA:79282 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Enlarged cerebellum, Ataxia |
OMIM:620047 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Failure to thrive, Agen... |
OMIM:277170 |
Hydranencephaly |
|
Abnormal corpus striatum morphology, Thalamic edema, Spastic diplegia, Opisthotonus, Cerebral cor... |
ORPHA:2177 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Tremor, Chorea, Dehydration, Agitation, Dysphagia |
ORPHA:94093 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Colpocephaly, Hypertonia, Failure to thrive, Ventricu... |
OMIM:618460 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Fryns Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation |
ORPHA:2059 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
Helsmoortel-Van Der Aa Syndrome |
|
Obesity, Truncal obesity, Lateral ventricle dilatation, Failure to thrive, Ventriculomegaly |
OMIM:615873 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... |
OMIM:610828 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hemiplegia/hemiparesis, Cerebellar hypoplasia, Agenesis of ... |
ORPHA:42775 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Spasticity, Failure to thrive, Secondary microcephaly |
OMIM:619423 |
Marshall-Smith Syndrome |
|
Absent septum pellucidum, Optic nerve hypoplasia, Pachygyria, Hydrocephalus, Cerebral atrophy, Ma... |
OMIM:602535 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia |
ORPHA:3301 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ... |
OMIM:608836 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Microcephaly, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leukomala... |
OMIM:617360 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Tremor, Spastic diplegia,... |
OMIM:300966 |
Apert Syndrome |
|
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Chiari type I malformation, Cerebellar h... |
OMIM:101200 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261537 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Hydrocephalus, Attention deficit hyperactivity disorder, Dysgenesis o... |
ORPHA:8 |
Marden-Walker Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Failure to thrive, ... |
ORPHA:2461 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy |
OMIM:146500 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Microcephaly, Trem... |
ORPHA:466768 |
Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria |
ORPHA:2328 |
Kleefstra Syndrome |
|
Microcephaly, Obesity, Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:261494 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, C... |
OMIM:300967 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Opitz Gbbb Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:300000 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Oculomotor apraxia, Aplasia/Hypoplas... |
ORPHA:1454 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618872 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of... |
ORPHA:480880 |
Opitz Gbbb Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia of the corpus callosum, Dan... |
ORPHA:2745 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive in infancy, Microcephaly, Hypoplasia of the corpus callosum, Failure to thrive,... |
OMIM:619418 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Agnathia-Otocephaly Complex |
|
Agenesis of corpus callosum |
OMIM:202650 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Microcephaly |
ORPHA:250989 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... |
OMIM:222448 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Spastic tetra... |
ORPHA:98889 |
Xp21 Deletion Syndrome |
|
Spasticity, Agenesis of corpus callosum |
ORPHA:261476 |
Methylmalonic Aciduria, Cbla Type |
|
Tremor, Dehydration |
OMIM:251100 |
Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261552 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:2318 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebellum morphology, Abnormal basal gan... |
ORPHA:68 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Dysplastic corpus callosum, Chiari type I ... |
ORPHA:466791 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Tremor, Abnormal cerebral white matter morphology, Hypo... |
ORPHA:506358 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Dehydration |
OMIM:619377 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Tremor, Pachygyria, Diffuse white mat... |
ORPHA:1934 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Ventriculomegaly |
ORPHA:261250 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral atrophy, Hy... |
OMIM:311200 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Obesity, Microcephaly |
ORPHA:96168 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Dehydration, Apraxia |
ORPHA:99885 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Small for gestational age, Microcephaly, Tremor, ... |
OMIM:220111 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Small for gestational age, Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus callo... |
OMIM:618500 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait dis... |
ORPHA:2754 |
Pearson Syndrome |
|
Ataxia, Hydrops fetalis, Dehydration, Corneal stromal edema, Dysphagia |
ORPHA:699 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum, Cerebellar cyst |
OMIM:613091 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Hydrocephalus, Polymicrogyria, Obesity, Leukoencephalopathy, Lateral ventricle dila... |
OMIM:607872 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Failure to thrive, Agenesis of corpus callosum, Cerebra... |
OMIM:151050 |
Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran... |
ORPHA:252164 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
12Q14 Microdeletion Syndrome |
|
Tremor, Failure to thrive, Chiari malformation, Microcephaly |
ORPHA:94063 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Orofaciodigital Syndrome Type 1 |
|
Ataxia, Tremor, Dystonia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Pai Syndrome |
|
Nasal polyposis, Depressed nasal bridge, Midline defect of the nose |
ORPHA:1993 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Dysesthesia, Babinski sign, Impaired proprioception, Abnormal pyramidal sign, Abnormal th... |
ORPHA:79138 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor... |
ORPHA:646 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:52055 |
Shigellosis |
|
Anorexia, Dehydration |
ORPHA:810 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Failure to thrive, Agenesis of corpus... |
OMIM:242840 |
Zttk Syndrome |
|
Periventricular leukomalacia, Dysplastic corpus callosum, Abnormal cerebral white matter morpholo... |
OMIM:617140 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Microcephaly, Spastic tetraplegia, Spastic diplegia, Hypothalamic hamarto... |
OMIM:206900 |
Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Agenesis of corpus callosum |
OMIM:618733 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Hypertonia, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Cerebral atrophy, Hypertonia, Secondary microcephaly, Hypoplasia of the corpus ca... |
OMIM:617248 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog... |
ORPHA:254892 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Failure to thrive in infancy, Microcephaly |
ORPHA:261323 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Slender build, Small for gestational age, Microcephaly, Hydrocephalus, Chiari typ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Slender build, Small for gestational age, Microcephaly, Hydrocephalus, Chiari typ... |
ORPHA:363958 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Dehydration, Paralysis |
ORPHA:18 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal... |
OMIM:301043 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenes... |
OMIM:227646 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia |
ORPHA:223 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia... |
ORPHA:220386 |
Wolf-Hirschhorn Syndrome |
|
Ataxia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Agenesis of corpus... |
ORPHA:280 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Dehydration, Self-injurious behavior, Joint swelling, Compulsive behaviors, Attention def... |
ORPHA:534 |
Immunodeficiency 13 |
|
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections |
OMIM:615518 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of t... |
OMIM:253280 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Anorexia, Dehydration |
OMIM:557000 |
Cholera |
|
Dehydration |
ORPHA:173 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callos... |
OMIM:270400 |
Toriello-Lacassie-Droste Syndrome |
|
Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios |
OMIM:263200 |
Ataxia-Telangiectasia |
|
Ataxia, Microcephaly, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cer... |
OMIM:208900 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Spastic paraplegia, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:847 |
Monosomy 22Q13.3 |
|
Impaired pain sensation, Agenesis of corpus callosum, Obesity, Cerebellar cortical atrophy |
ORPHA:48652 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Agenesis of corpus callosum |
OMIM:300472 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum |
OMIM:309520 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Tremor, R... |
OMIM:601104 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Microform Holoprosencephaly |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:280200 |
Coffin-Siris Syndrome 4 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:614609 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, P... |
OMIM:619841 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly, Microcephaly |
ORPHA:2165 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Orofaciodigital Syndrome Type 5 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:2919 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis |
OMIM:155145 |
Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
Neu-Laxova Syndrome 1 |
|
Choroid plexus cyst, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly,... |
OMIM:256520 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity |
OMIM:305450 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:85201 |
Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
ORPHA:264450 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Small for gestational age, Agenesis of corpus callosum |
ORPHA:556955 |
14Q22Q23 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:264200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomal... |
ORPHA:508498 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Wiedemann-Rautenstrauch Syndrome |
|
Small for gestational age, Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Failur... |
OMIM:264090 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:608647 |
Coffin-Siris Syndrome |
|
Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly |
ORPHA:1465 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Paresthesia, Polyhydramnios, Dehydration |
OMIM:241200 |
Vipoma |
|
Ascites, Anorexia, Dehydration |
ORPHA:97282 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Slender build, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hyperton... |
ORPHA:3455 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:615948 |
Kabuki Syndrome 1 |
|
Lateral ventricle dilatation, Hydrocephalus, Microcephaly |
OMIM:147920 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Holoprosencephaly 1 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:236100 |
Cystinosis, Nephropathic |
|
Polydipsia, Dehydration, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:174300 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Cerebral calcification, Microcephaly, Tremor, Hemiple... |
ORPHA:51 |
Fryns Syndrome |
|
Large for gestational age, Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Agenesis... |
OMIM:229850 |
Marburg Hemorrhagic Fever |
|
Dysesthesia, Dehydration, Anorexia, Aggressive behavior |
ORPHA:99826 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation... |
OMIM:619534 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morphology, Inability to walk, Hypert... |
ORPHA:86309 |
Microsporidiosis |
|
Anorexia, Dehydration |
ORPHA:2552 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Spasticity, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Lysosomal Acid Lipase Deficiency |
|
Ascites, Dehydration |
ORPHA:275761 |
Craniopharyngioma |
|
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal... |
ORPHA:54595 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:605376 |
1P36 Deletion Syndrome |
|
Microcephaly, Hemiplegia/hemiparesis, Obesity, Gait disturbance, Failure to thrive, Agenesis of c... |
ORPHA:1606 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis... |
OMIM:236680 |
Osteopathia Striata With Cranial Sclerosis |
|
Partial agenesis of the corpus callosum, Failure to thrive, Hydrocephalus |
OMIM:300373 |
Bartter Syndrome, Type 1, Antenatal |
|
Paresthesia, Polyhydramnios, Dehydration |
OMIM:601678 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Agenesis of corpus callosum |
OMIM:618419 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology |
ORPHA:464321 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypertonia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
Jacobsen Syndrome |
|
Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2308 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Seve... |
ORPHA:3472 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Bartter Syndrome Type 4 |
|
Dehydration, Polyhydramnios, Clumsiness |
ORPHA:89938 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular... |
OMIM:194190 |
Perlman Syndrome |
|
Agenesis of corpus callosum, Large for gestational age |
OMIM:267000 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t... |
ORPHA:352665 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... |
ORPHA:2273 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2658 |
Acrocallosal Syndrome |
|
Failure to thrive, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:93271 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Degcags Syndrome |
|
Small for gestational age, Microcephaly, Vocal cord paralysis, Failure to thrive, Agenesis of cor... |
OMIM:619488 |
Monosomy 9P |
|
Hypertonia, Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus ... |
OMIM:610829 |
Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar ... |
ORPHA:2152 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:47159 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Failure to thrive, Agenesis of corpus call... |
ORPHA:2556 |
Rubinstein-Taybi Syndrome 1 |
|
Incoordination, Small for gestational age, Microcephaly, Unsteady gait, Poor coordination, Trunca... |
OMIM:180849 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum |
OMIM:276300 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Edema, Dehydration |
ORPHA:79404 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Dehydration |
ORPHA:652 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Simpson-Golabi-Behmel Syndrome |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Agenesis of corpus callosum, Difficulty walking |
OMIM:618748 |
Lipoid Proteinosis |
|
Nasal polyposis |
ORPHA:530 |
Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Chiari malformation, Polymicrogyria, Agenesis of corpus ca... |
OMIM:218600 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Dysmetria |
OMIM:620185 |
Norrie Disease |
|
Failure to thrive, Clonus, Cachexia, Microcephaly, Hypertonia, Aplasia/Hypoplasia of the cerebell... |
ORPHA:649 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Nasal polyposis, Abnormality of the nose |
ORPHA:2869 |
Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
Holoprosencephaly 2 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:157170 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Thin corpus callosum, Partial agenesis of the corpus callosum, Torticollis |
OMIM:619480 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
African Trypanosomiasis |
|
Abnormal basal ganglia MRI signal intensity, Somatic sensory dysfunction, Abnormal central motor ... |
ORPHA:3385 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Obesity, Chiari type I malformation, Chiari malformation, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Obesity, Chiari type I malformation, Chiari malformation, ... |
ORPHA:353277 |
Chromosome 13Q14 Deletion Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum |
OMIM:613884 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Microcephaly |
OMIM:305600 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Coffin-Siris Syndrome 1 |
|
Microcephaly, Partial agenesis of the corpus callosum, Gait ataxia, Hypoplasia of the corpus call... |
OMIM:135900 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Primary Ciliary Dyskinesia |
|
Nasal congestion, Nasal polyposis, Chronic rhinitis |
ORPHA:244 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hemiplegia/hemiparesis, Nasal polyposis, Gait disturbance |
ORPHA:183 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:90794 |
Hartsfield Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:615465 |
Peters-Plus Syndrome |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Decreased body weight, Agenesis of corpus callosum... |
OMIM:261540 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obesity |
OMIM:619426 |
Townes-Brocks Syndrome |
|
Failure to thrive, Chiari malformation, Agenesis of corpus callosum |
ORPHA:857 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Incoordination, Babi... |
OMIM:601992 |
Ring Chromosome 13 Syndrome |
|
Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
Witteveen-Kolk Syndrome |
|
Small for gestational age, Poor motor coordination, Decreased response to growth hormone stimulat... |
OMIM:613406 |
Williams Syndrome |
|
Ataxia, Involuntary movements, Failure to thrive in infancy, Atrophy/Degeneration involving the c... |
ORPHA:904 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Small for gestational age, Failure to thrive in infancy, Microcepha... |
OMIM:216340 |
Full Nf2-Related Schwannomatosis |
|
Unsteady gait, Remnants of the hyaloid vascular system |
ORPHA:637 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:312870 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:95494 |
Nephronophthisis 14 |
|
Cerebellar vermis hypoplasia |
OMIM:614844 |
Granulomatosis With Polyangiitis |
|
Concave nasal ridge, Nasal mucosa vasculitis |
OMIM:608710 |
Craniofacial Microsomia 1 |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:164210 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis |
OMIM:175200 |
Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Facial palsy |
ORPHA:797 |
Cystic Fibrosis |
|
Nasal polyposis |
ORPHA:586 |