Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal enzyme/coenzyme activity |
OMIM:125460 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gait ataxia, Spasticity, Gliosis, Torticollis |
OMIM:618369 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... |
OMIM:213200 |
Huntington Disease |
|
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Dysmetria, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, Ataxia, Gai... |
OMIM:607136 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia |
OMIM:615268 |
Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:617769 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Pontocerebellar Hypoplasia, Type 4 |
|
Cerebellar hypoplasia, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypo... |
OMIM:225753 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... |
OMIM:221820 |
Huntington Disease-Like 1 |
|
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... |
ORPHA:157941 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait |
OMIM:616410 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:615957 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Spastic gait |
OMIM:617133 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor |
OMIM:615945 |
Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:117210 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... |
ORPHA:98769 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... |
OMIM:604484 |
Developmental And Epileptic Encephalopathy 14 |
|
Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Gliosis, Neuronal loss in central ner... |
OMIM:614959 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... |
ORPHA:276193 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, Small for gestational age, Spasticity, Gliosis, Hypertonia |
OMIM:615095 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Gait disturbance, Myoc... |
ORPHA:363710 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Increased circulating lactate dehydrogenase concentration, Abnormal astrocyte... |
ORPHA:168486 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... |
OMIM:616948 |
Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... |
ORPHA:204 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Spastic tetraplegia, Spastic paraplegia, Cerebral palsy, Gliosis, Babinski sign |
OMIM:612936 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... |
OMIM:105550 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Global brain atrophy... |
ORPHA:275872 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, Fascicu... |
OMIM:109150 |
Spinocerebellar Ataxia 35 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... |
OMIM:613908 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Gliosis, Neuronal loss in central nervous system, Ab... |
OMIM:604218 |
Spinocerebellar Ataxia Type 12 |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... |
ORPHA:98762 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... |
OMIM:610245 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Ankle clonus, Cerebellar atrophy, Cerebellar hypoplasia, Unsteady gait, Spasticity, Limb ataxia, ... |
OMIM:615768 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... |
OMIM:613728 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign |
OMIM:617770 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... |
OMIM:614946 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness |
OMIM:608029 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Decreased liver ... |
ORPHA:512260 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Tremor, Abnormal cerebellum morphology, Truncal obesity, Spasticity, I... |
OMIM:300957 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Unste... |
OMIM:256600 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... |
OMIM:607346 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebellar hypoplasia, Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dysto... |
ORPHA:280210 |
L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Global brain atrophy, Corpus c... |
OMIM:236792 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... |
OMIM:617633 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... |
OMIM:611302 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Hepatic failure, Ataxia, Gait ataxia, Distal sensory impairme... |
OMIM:616719 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis, Paralysis, Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Paralysis, Hepatic failure, Astrocytosis, Ataxia, Failure to thrive, Elevated... |
OMIM:203700 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Motor stereotypy, Overweight, Gait disturbance, Gliosis, Upper limb spastic... |
ORPHA:457240 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Ataxia, Spasticity, Corpus callosum atrophy, Gliosis, Babinski si... |
OMIM:169500 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... |
OMIM:301790 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Rigidity, Clonus, Gliosis, Neuronal loss in central nervous system, Babinski si... |
OMIM:614498 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Caudate atrophy, Apraxia, Spasticity, Gait disturbance, Gliosis, Babinski sign,... |
OMIM:221770 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... |
OMIM:616204 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... |
OMIM:609270 |
Familial Infantile Bilateral Striatal Necrosis |
|
Tetraparesis, Spastic tetraparesis, Frequent falls, Basal ganglia gliosis, Choreoathetosis, Astro... |
ORPHA:225154 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Pontocerebellar Hypoplasia, Type 2A |
|
Extrapyramidal dyskinesia, Opisthotonus, Cerebellar hypoplasia, Gliosis, Cerebral cortical atroph... |
OMIM:277470 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... |
ORPHA:101112 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar hypoplasia, Failure to thrive, Gliosis |
OMIM:214150 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia |
OMIM:615217 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Basal ganglia gliosis, Small for gestational age, Cerebellar cyst, Inability to... |
ORPHA:79243 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... |
OMIM:117360 |
Hemimegalencephaly |
|
Gliosis, Abnormal neuron morphology, Hemiparesis, Myoclonus |
ORPHA:99802 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis |
OMIM:613002 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis |
OMIM:617691 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... |
ORPHA:352403 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Increased circulating lactate dehydrogenase conc... |
OMIM:619405 |
Spinocerebellar Ataxia 5 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Intention tremor, Ga... |
OMIM:600224 |
Spinocerebellar Ataxia Type 17 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Cerebellar atrophy, Parkin... |
ORPHA:98759 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Gait ataxia, ... |
ORPHA:208513 |
Spinocerebellar Ataxia 26 |
|
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia |
OMIM:609306 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... |
OMIM:600223 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Atrophy of the spinal cord, Atrophy/... |
ORPHA:445062 |
Leigh Syndrome |
|
Gliosis, Failure to thrive, Spasticity, Ataxia |
OMIM:256000 |
Pick Disease Of Brain |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:172700 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... |
ORPHA:98772 |
Tay-Sachs Disease |
|
Incoordination, Ankle clonus, Cerebellar atrophy, Dysmetria, Frequent falls, Decerebrate rigidity... |
ORPHA:845 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Gliosis, Failure to thrive, Ataxia, Tremor |
OMIM:220111 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Gait disturbance, Spasticity, Unsteady gait |
OMIM:603896 |
Spinocerebellar Ataxia 34 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... |
OMIM:133190 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Spasticity, Neurodegeneration, Gliosis, Neuronal loss in central nervous system |
OMIM:616239 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Dysmetria, Abnormal pyramidal sign, Titubat... |
ORPHA:397946 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Ataxia, Chorea, Neurodegeneration, Gliosis |
OMIM:618321 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Gliosis, Neurona... |
ORPHA:683 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cataplexy, Inability to walk, A... |
OMIM:617193 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor |
OMIM:606658 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Truncal ataxia, Cerebellar atrophy, Limb ataxia, Ataxia |
OMIM:614229 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... |
OMIM:612020 |
Leigh Syndrome |
|
Cerebellar atrophy, Hepatic failure, Choreoathetosis, Involuntary movements, Olivopontocerebellar... |
ORPHA:506 |
Mannosidosis, Alpha B, Lysosomal |
|
Abnormal pyramidal sign, Cerebellar atrophy, Gait ataxia, Spasticity, Corpus callosum atrophy, Ce... |
OMIM:248500 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis, Tetraplegia, Spastic tetraplegia, Hypertonia |
OMIM:608033 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Gliosis, Parkinsonism, Degeneration of anterior horn cells, Trophic limb changes |
OMIM:118301 |
Hereditary Late-Onset Parkinson Disease |
|
Frequent falls, Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Akinesia, Rigidity, C... |
ORPHA:411602 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Gliosis |
ORPHA:3240 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dysarthria, ... |
ORPHA:98760 |
Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Paraparesis, Abnormal cerebellar peduncle morphology, Abnormality of extrap... |
ORPHA:909 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Central nervous system degeneration, Cerebral atrophy, Cerebellar hypoplasia, Failure to thrive, ... |
OMIM:602613 |
Parkinson Disease 1, Autosomal Dominant |
|
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Rigidity, Gait disturbance, Gliosis, ... |
OMIM:168601 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Alde... |
OMIM:252150 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... |
OMIM:137440 |
Familial Acute Necrotizing Encephalopathy |
|
Spastic tetraplegia, Rigidity, Spasticity, Gait disturbance, Gliosis, Hypertonia |
ORPHA:88619 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Parkinsonism, Apraxia, Cerebral cortical atrophy, Gliosis, Neuron... |
OMIM:607485 |
Lissencephaly, X-Linked, 2 |
|
Gliosis, Spasticity |
OMIM:300215 |
Kleefstra Syndrome Due To A Point Mutation |
|
Cerebellar hypoplasia, Failure to thrive, Large for gestational age, Gliosis |
ORPHA:261652 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Cerebral atrophy, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Gliosis, Molybdenum cofact... |
OMIM:252160 |
Supranuclear Palsy, Progressive, 2 |
|
Parkinsonism, Eyelid apraxia, Bradykinesia, Akinesia, Neuronal loss in central nervous system, Ri... |
OMIM:609454 |
Supranuclear Palsy, Progressive, 1 |
|
Parkinsonism, Eyelid apraxia, Bradykinesia, Akinesia, Neuronal loss in central nervous system, Ri... |
OMIM:601104 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Small for gestational age, Inability to walk... |
ORPHA:404454 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Inability to walk, Decreased liver fun... |
ORPHA:26791 |
Progressive Multifocal Leukoencephalopathy |
|
Dysmetria, Somatic sensory dysfunction, Abnormal astrocyte morphology, Parkinsonism, Abnormal oli... |
ORPHA:217260 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Abnormal pons morphology, Cerebellar hypoplasia, Lower limb spasticity... |
OMIM:300868 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Neonatal death, Jaundice |
OMIM:231680 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Failure to thrive, Elevated hepatic transaminase, Corpus callosum atrophy, Gl... |
OMIM:261515 |
Cockayne Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Somatic sensory dysfunction, Intention tremo... |
ORPHA:191 |
Papillorenal Syndrome |
|
Gliosis, Chiari type I malformation |
OMIM:120330 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Failure to thrive in infancy, Small for gestational age, Stereotypical hand wringing, Ataxia, Cer... |
ORPHA:268261 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis, Failure to thrive |
OMIM:617403 |
Gabriele-De Vries Syndrome |
|
Gliosis, Waddling gait, Small for gestational age, Tremor |
ORPHA:506358 |
Diets-Jongmans Syndrome |
|
Gliosis |
OMIM:618846 |