| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia |
OMIM:209100 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Generalized hypotonia, Cerebellar hypoplasia, Spastic tetraplegia, Hyp... |
OMIM:618174 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Hypotonia |
OMIM:213000 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Appendicular hypotonia, Ataxia, Inability to walk, Cerebellar atrophy, Hypotonia |
OMIM:619333 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia, Hypotonia |
ORPHA:1397 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Cere... |
ORPHA:94122 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
| Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Limb ataxia, Generalized hypotonia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... |
OMIM:619742 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia |
OMIM:617133 |
| Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... |
OMIM:608029 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy, Hypotonia |
OMIM:617917 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Inability to walk, Cerebellar vermis atrophy, Iron accumulation in substantia nigra, Cere... |
OMIM:619389 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
| Joubert Syndrome 25 |
|
Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:616781 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia, Absent mesencephalon |
OMIM:601374 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... |
OMIM:616948 |
| Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... |
OMIM:604213 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ataxia, Inability to walk, Death in childhood, Death in adolescence, Cerebellar hypoplasia, Ventr... |
OMIM:616486 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Dysmetria, Death in childhood, Babinski sign, Death in adolescence, Abnorm... |
OMIM:203450 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:615771 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Gait disturbance, Ataxia, Aplasia/Hypoplasia of the cerebellum, Hypotonia |
ORPHA:1178 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Action tremor, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention t... |
OMIM:616127 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... |
OMIM:117360 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Neonatal hypotonia, Intention tremor, Cerebellar atrophy |
OMIM:302500 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Tr... |
OMIM:617862 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ataxia, Inability to walk, Generalized hypotonia, Cerebellar hypoplasia, Unsteady gait, Oculomoto... |
OMIM:618273 |
| Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Generalized hypotonia, Simulta... |
ORPHA:157941 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Generalized hy... |
OMIM:128100 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:614322 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia |
ORPHA:2703 |
| Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Gait ataxia... |
OMIM:213200 |
| Meckel Syndrome 13 |
|
Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy |
OMIM:618876 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Infantile muscular hypotonia, Dysmetria, Oculomotor apraxia, Intention tremor, Nonpro... |
ORPHA:453521 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... |
OMIM:615768 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:615705 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Truncal... |
OMIM:224050 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ataxia, Facial hypotonia, Cerebellar hypoplasia |
OMIM:618383 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Dysmetria, Generalized hypotonia, Spasticity, Cerebellar atrophy |
OMIM:617916 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Clumsiness, Hoff... |
ORPHA:206448 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Atrophy/Degeneration affecting t... |
OMIM:616230 |
| Camos Syndrome |
|
Ataxia, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spast... |
ORPHA:83472 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Abnormal brainstem morphology, Cerebellar ... |
ORPHA:1532 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Spastic a... |
ORPHA:2572 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia |
OMIM:125370 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
| Lissencephaly 3 |
|
Ataxia, Generalized hypotonia, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypotonia, Agen... |
OMIM:611603 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:616187 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance, Tremor, Cerebell... |
OMIM:618090 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Cerebellar... |
OMIM:614860 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Progressive spasticity, Tremor, Cerebellar at... |
OMIM:210000 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
| Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death ... |
OMIM:619302 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Generalized hypotonia, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Hy... |
OMIM:612016 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia |
ORPHA:99966 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Abnormal cerebellum morphology, Action tremor, Poor fine motor coordination, Bradykinesia... |
ORPHA:98762 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Generalized hyp... |
ORPHA:98763 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Tremor, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Cerebellar vermis atrophy, Dysmetria, Chorea, Gait ataxia, Axial hypot... |
OMIM:618501 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
| Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Severe muscular hypotonia, Ataxia, Generalized hypotonia, Cerebellar hypoplasia |
OMIM:616917 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Abn... |
OMIM:615362 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait, Cerebellar atrophy |
ORPHA:284271 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Ataxia, Generalized hypotonia, Cerebellar vermis hypoplas... |
OMIM:609583 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
| Papilloma Of Choroid Plexus |
|
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma |
ORPHA:2807 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Abnormal brainstem morp... |
ORPHA:370022 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Generalized hypotonia, Cerebellar hypoplasia, Gait disturbance, Spasticity, Hy... |
OMIM:616654 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Ventriculomegaly, Ataxia |
OMIM:618709 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Joubert Syndrome 31 |
|
Oculomotor apraxia, Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Infa... |
ORPHA:512260 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait |
OMIM:618387 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:610743 |
| Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617120 |
| Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Impaired vibratory sensation, Intention tremor, Dysdiadochokinesis, Gener... |
OMIM:600224 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Progressive cerebellar ataxia, Dysmetria, Cerebellar hypoplasia, Spastic dysarthria, Gait ataxia,... |
ORPHA:314603 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partial agenesis of ... |
OMIM:304100 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... |
OMIM:618317 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Cerebellar hypoplasia, Hypotonia |
ORPHA:2246 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Cerebellar atrophy, Oculomotor apraxia, Dystonia, Tetraplegia |
OMIM:616267 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, R... |
ORPHA:98759 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
| Spinocerebellar Ataxia 49 |
|
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Unsteady gait, Cerebell... |
OMIM:619806 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spinocerebellar Ataxia Type 29 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized h... |
ORPHA:208513 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, A... |
OMIM:615159 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Babinski sign, Dilated fourth ventricle, Frequent... |
OMIM:619054 |
| Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
| Joubert Syndrome 33 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617767 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Spasticity |
OMIM:600348 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Infantile muscular hypotonia, Bradykine... |
ORPHA:225147 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Motor stereotypy, Ataxia, Dilated fourth ventricle, Enlar... |
OMIM:610688 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... |
OMIM:617225 |
| Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Abnormal cerebellum morphology, Abnormal pyramidal sign, Hypoplasia of the pons, ... |
ORPHA:101070 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Abnormal cerebellum morphology, Increased ... |
ORPHA:255182 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Abnormal pons morphology, Progressive cerebellar ataxia, Abnormal cerebellum morphology, ... |
ORPHA:98 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... |
OMIM:619028 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Head titubation, Spasticity, C... |
OMIM:617560 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Titubation, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:619405 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:615386 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy |
OMIM:256731 |
| Coach Syndrome 2 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Agenesi... |
OMIM:619111 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Akinesia, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Agenesis of co... |
OMIM:225790 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Joubert Syndrome 17 |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
| Joubert Syndrome 32 |
|
Oculomotor apraxia, Abnormal cerebellum morphology, Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Broad-based gait, Hypertonia, Dysmetria, Ankle clonus, Babinski sign, Hypoplasia of the pons, Tru... |
OMIM:606854 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
| Masa Syndrome |
|
Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculomegaly, Lower limb spast... |
OMIM:303350 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... |
OMIM:613153 |
| Joubert Syndrome 30 |
|
Superior cerebellar dysplasia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dan... |
OMIM:617622 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Dysmetria, Generalized hypotonia, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia |
OMIM:618088 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Hemiparesis, Midline brainstem cleft, Unsteady gait, Agene... |
OMIM:617542 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Ataxia, Abnormal cerebellum morphology, Tip-toe gait, Dysmetria, Babinski sign, Spastic paraplegi... |
OMIM:609195 |
| Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Parkinsonism, Fasciculations, C... |
ORPHA:98756 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Frequent falls, Spasticity, Abno... |
ORPHA:216866 |
| Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
| Spinocerebellar Ataxia 13 |
|
Progressive cerebellar ataxia, Limb ataxia, Generalized hypotonia, Abnormal pyramidal sign, Limb ... |
OMIM:605259 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:300864 |
| Fried Syndrome |
|
Gait disturbance, Spastic diplegia, Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:85335 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tre... |
ORPHA:99947 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Ataxia, Spasticity, Abnormal brainstem morphology |
ORPHA:99852 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia, Cerebellar atrophy |
OMIM:612020 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized hypotonia, Rigidity, Tremor, Chiari type I malformation, Dystonia |
OMIM:617836 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia, Hypoplasia of the brainstem |
ORPHA:352682 |
| Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, B... |
ORPHA:98755 |
| Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Cerebellar atrophy |
ORPHA:98771 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Central Neurocytoma |
|
Hydrocephalus, Pain insensitivity, Ataxia, Babinski sign, Paresthesia, Abnormal lateral ventricle... |
ORPHA:73256 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Neonatal hypotonia, Dysmetria, Generalized hypotonia, Tremor, Cerebellar atrophy, Unstead... |
OMIM:614867 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... |
ORPHA:1170 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Hypoplasia of the pons, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Dilated fourth ve... |
ORPHA:251347 |
| Lissencephaly 5 |
|
Hydrocephalus, Spastic paraplegia, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia... |
OMIM:615191 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar atrophy, ... |
OMIM:618093 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Ataxia, Dysmetria, Generalized hypotonia, Gait ataxia, Cerebellar atrophy, Hypotonia |
OMIM:614306 |
| Null Syndrome |
|
Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff... |
ORPHA:280234 |
| Pettigrew Syndrome |
|
Hydrocephalus, Choreoathetosis, Gait ataxia, Ventriculomegaly, Spasticity, Dandy-Walker malformation |
OMIM:304340 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:614229 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... |
OMIM:183090 |
| Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly, Molar tooth sign on MRI |
OMIM:617127 |
| Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Hypotonia |
OMIM:613612 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Dysmetria, Spastic paraparesis, Oculomotor apraxia, Dysdiadochokinesis, Myoclonus, Spasti... |
OMIM:614487 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Joubert Syndrome 15 |
|
Ataxia, Generalized hypotonia, Hypotonia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:614464 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
| Spinocerebellar Ataxia Type 8 |
|
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Hypop... |
ORPHA:98760 |
| Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Ataxia, Enlarged fossa interpeduncularis, Cerebellar verm... |
OMIM:608629 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... |
ORPHA:280219 |
| Cerebellofaciodental Syndrome |
|
Cryptorchidism, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain |
OMIM:616202 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
| Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Gait ataxia, Cere... |
OMIM:609307 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cy... |
OMIM:615181 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... |
OMIM:133190 |
| Joubert Syndrome 16 |
|
Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
| Spinocerebellar Ataxia 36 |
|
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Cere... |
OMIM:614153 |
| Joubert Syndrome 28 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617121 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Hemiplegia, Ataxia, Cerebellar vermis atrophy, Dystonia |
ORPHA:97 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Poor fine motor coordination, Abnormal pyramidal sign, Cerebellar vermis hypo... |
OMIM:618800 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Death in childhood, Ventriculomegaly, Cerebellar atrophy, Spasticity, CSF lymphocy... |
OMIM:610333 |
| Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Brain stem compression, Hydrocephalus, Ataxia, Paraparesis, Aqueductal stenosis... |
ORPHA:1136 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Ataxia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:618161 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Generalized hypotonia, Titubation,... |
ORPHA:98768 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251915 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Ataxia, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Oculomotor apraxia... |
ORPHA:220497 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Myoclonus, Spasticity, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Joubert Syndrome 7 |
|
Ataxia, Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplas... |
OMIM:611560 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... |
ORPHA:98773 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Death in infancy |
OMIM:129850 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:215470 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Chiari malformation, Spina bifida, Agenesi... |
OMIM:207950 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... |
OMIM:220220 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Ventriculomegaly, Spasticity, Occipital enceph... |
OMIM:615287 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Abnormal pyramidal sign, Dilated fourth ventricle,... |
ORPHA:370959 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Chorea, Frequent falls, Gait ataxia, Cerebellar atrophy, Oculomotor apraxia, ... |
OMIM:604391 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Loss of ambulation, Abnormal cerebellum morphology, Truncal titubation, Intention tremor, Babinsk... |
OMIM:610532 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hydrocephalus, Tremor, Spastic tetraparesis |
OMIM:619470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar hypoplasia, Inability to walk, Cerebellar dysplasia |
OMIM:613155 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Spasticity, Agenes... |
ORPHA:2182 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly |
ORPHA:945 |
| Hemangioblastoma |
|
Dysesthesia, Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma |
ORPHA:252054 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Cerebellar malformation, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Spastic paraplegia, Spasticity, Agenesis of corpus callosum |
OMIM:307000 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Cerebellar hypoplasia, Titubation, Difficulty walking, Hypotonia, Lowe... |
ORPHA:280210 |
| Coach Syndrome 3 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:619113 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Spasticity, Tremor, Abnormal posturing |
OMIM:304700 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... |
OMIM:277460 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ataxia, Rigidity, Cerebellar hypoplasia, Ventriculomegaly, Spasticity, Spastic tet... |
OMIM:618476 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus ... |
ORPHA:1528 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Ataxia, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Oculomotor apraxia... |
ORPHA:220493 |
| Spinocerebellar Ataxia 32 |
|
Ataxia, Cerebellar atrophy |
OMIM:613909 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Dysmetria, Impaired vibratory sensation, Generalized hypotonia, Babinski sign, Abnormal pyramidal... |
ORPHA:459056 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Bile duct proliferation, ... |
OMIM:611134 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Abnormal cerebellum morphology, Truncal titubation, Dysmetria, Tremor, Gait ataxia, C... |
OMIM:618056 |
| Joubert Syndrome 22 |
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Oculomotor apraxia, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
| Lactic Acidosis, Chronic Adult Form |
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Hyperuricemia |
OMIM:150170 |
| Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Joubert Syndrome 2 |
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Elongated superior cerebellar peduncle, Hydrocephalus, Ataxia, Encephalocele, Dysgenesis of the c... |
OMIM:608091 |
| Tubulointerstitial Nephritis With Uveitis |
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Elevated circulating creatinine concentration |
OMIM:607665 |
| Meckel Syndrome, Type 10 |
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Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walk... |
OMIM:614175 |
| Joubert Syndrome 9 |
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Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
| Renal Tubular Acidosis, Distal, 1 |
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Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
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Sensory ataxia, Babinski sign, Atrophy/Degeneration affecting the brainstem, Gait ataxia, Cerebel... |
ORPHA:445062 |
| Gillespie Syndrome |
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Ataxia, Generalized hypotonia, Cerebellar hypoplasia, Cerebellar atrophy, Postural tremor, Slurre... |
OMIM:206700 |
| Methylmalonic Acidemia With Homocystinuria |
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Gait disturbance, Hydrocephalus |
ORPHA:26 |
| Orofaciodigital Syndrome Xvi |
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Ataxia, Inability to walk, Ventriculomegaly, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:617563 |
| Muscle-Eye-Brain Disease |
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Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Aplasia/Hypoplasia of the c... |
ORPHA:588 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Hydrocephalus, Abnormal brainstem morphology, Agenesis of cerebellar vermis, Cerebellar vermis hy... |
ORPHA:163961 |
| Distal 7Q11.23 Microduplication Syndrome |
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Hydrocephalus, Chiari malformation, Frontal encephalocele |
ORPHA:261102 |
| Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
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Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:79279 |
| Nephronophthisis-Like Nephropathy 2 |
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Elevated circulating creatinine concentration |
OMIM:619468 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
| Polymicrogyria Due To Tubb2B Mutation |
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Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemiparesis, Lateral ven... |
ORPHA:300573 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
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Hydrocephalus, Death in infancy |
OMIM:258320 |
| Developmental And Epileptic Encephalopathy 36 |
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Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function |
OMIM:300884 |
| Pontocerebellar Hypoplasia, Type 7 |
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Hypertonia, Hydrocephalus, Ataxia, Opisthotonus, Myoclonus, Hypoplasia of the pons, Cerebellar hy... |
OMIM:614969 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
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Hydrocephalus |
ORPHA:1008 |
| Melanosis, Neurocutaneous |
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Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation, Death in infancy |
OMIM:249400 |
| Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
| Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
| Slc35A2-Cdg |
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Inability to walk, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Ce... |
ORPHA:356961 |
| Joubert Syndrome 40 |
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Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:619582 |
| Joubert Syndrome With Oculorenal Defect |
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Hydrocephalus, Ataxia, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI |
ORPHA:2318 |
| L1 Syndrome |
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Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Gait disturbance, Spasticity |
ORPHA:275543 |
| Joubert Syndrome 8 |
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Hypertonia, Ataxia, Oculomotor apraxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Hydrocephalus, Cerebellar atrophy |
OMIM:618302 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
| Epilepsy, Pyridoxine-Dependent |
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Hydrocephalus |
OMIM:266100 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Gait imbalance, Ataxia, Cerebellar vermis atrophy, Babinski sign, Abnormal pyramidal sign, Head t... |
ORPHA:64753 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Parkinsonism, Rigidity, Thi... |
OMIM:619911 |
| Japanese Encephalitis |
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Hypertonia, Abnormal pons morphology, Opisthotonus, Respiratory paralysis, CSF pleocytosis, Pill-... |
ORPHA:79139 |
| 1Q21.1 Microduplication Syndrome |
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Hypertonia, Hydrocephalus |
ORPHA:250994 |
| Coach Syndrome 1 |
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Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar vermis hypoplasia, Spasticity, Oc... |
OMIM:216360 |
| Achondroplasia |
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Hydrocephalus, Brain stem compression |
OMIM:100800 |
| Joubert Syndrome 1 |
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Elongated superior cerebellar peduncle, Ataxia, Dysgenesis of the cerebellar vermis, Agenesis of ... |
OMIM:213300 |
| Preeclampsia |
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Elevated circulating creatinine concentration |
ORPHA:275555 |
| Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
| Joubert Syndrome 39 |
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Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Occipital encephalocele, Mo... |
OMIM:619562 |
| Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration |
OMIM:616733 |
| Holoprosencephaly 5 |
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Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| Hyperlipoproteinemia, Type I |
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Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
| Fanconi Anemia, Complementation Group R |
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Hydrocephalus |
OMIM:617244 |
| Kleeblattschaedel |
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Hydrocephalus |
OMIM:148800 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
| Dentatorubral Pallidoluysian Atrophy |
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Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Blepharospasm, Limb a... |
ORPHA:101 |
| Pontocerebellar Hypoplasia Type 10 |
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Hypertonia, Spasticity, Abnormal brainstem morphology |
ORPHA:411493 |
| Joubert Syndrome 20 |
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Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:614970 |
| Al-Gazali-Bakalinova Syndrome |
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Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Hypertonia, Hydrocephalus, Ataxia, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morph... |
ORPHA:2720 |
| Morgagni-Stewart-Morel Syndrome |
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Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
| Nasu-Hakola Disease |
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Hydrocephalus, Chorea, Spasticity, Ventriculomegaly, Oculomotor apraxia |
ORPHA:2770 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Spasticity |
OMIM:615599 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Hydrocephalus, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Ventriculomegaly, Cer... |
OMIM:613150 |
| Cerebral Creatine Deficiency Syndrome 2 |
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Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Vacterl Association With Hydrocephalus |
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Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
| Congenital Hydrocephalus |
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Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Arima Syndrome |
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Occipital meningocele, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventri... |
OMIM:243910 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:277170 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
| Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Abnormal pyramidal sign, Hydrocephalus, Babinski sign, Spasticity |
ORPHA:397951 |
| Amoebiasis Due To Free-Living Amoebae |
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Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Abnormality of the cerebrospina... |
ORPHA:68 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... |
OMIM:619306 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Lennox-Gastaut Syndrome |
|
Myoclonus, Falls, Abnormal brainstem morphology |
ORPHA:2382 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia |
OMIM:615812 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Joubert Syndrome 37 |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619185 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ataxia, Agenesis of cerebellar vermis, Abnormal dentate nucleus morphology, Fusion... |
ORPHA:59315 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Colpocephaly, Dilated thi... |
ORPHA:397715 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Chiari type I malformation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
| Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigi... |
ORPHA:93256 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Inability to walk, Gait ataxia, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616362 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
| Oxoglutaric Aciduria |
|
Hypertonia, Hydrocephalus, Ataxia |
ORPHA:31 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Ataxia, Ventriculomegaly, Cerebellar atrophy, Increased CSF protein, Spasticity |
OMIM:272200 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Familial Acute Necrotizing Encephalopathy |
|
Hypertonia, Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Gai... |
ORPHA:88619 |
| Medulloblastoma |
|
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Cerebellar ata... |
ORPHA:616 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
