| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Generalized hypotonia, Abasia, Ataxia, Hypotonia |
OMIM:209100 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hypoplasia of the brainstem, Generalized hypotonia, Cerebellar hypoplasia, Ata... |
OMIM:618174 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Generalized hypotonia, Cerebellar hypoplasia, Ataxia, Hypotonia |
OMIM:213000 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia, Hypotonia |
ORPHA:1397 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Ataxia, Cerebellar atrophy, Appendicular hypotonia, Hypotonia |
OMIM:619333 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Generalized hypotonia, Truncal ataxia, Nonprogressive cerebellar ataxia, Cerebellar ... |
ORPHA:94122 |
| Mental Retardation, Autosomal Recessive 53 |
|
Severe muscular hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Ataxia |
OMIM:616917 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... |
ORPHA:171622 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Dandy-Walker Syndrome |
|
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... |
OMIM:220200 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:616410 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Hypotonia, Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:2672 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:617769 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
ORPHA:211017 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Olivopontocerebellar atrophy, Ataxia |
OMIM:258300 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign |
OMIM:618418 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... |
OMIM:617018 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Generalized hypotonia, Truncal ataxia, Difficulty walking, Limb ataxia, Cerebellar vermis atrophy |
ORPHA:363432 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Generalized hypotonia, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy... |
OMIM:617917 |
| Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia,... |
OMIM:604213 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus, Cerebellar agenesis |
OMIM:307010 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, M... |
OMIM:615771 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Generalized hypotonia, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria, H... |
OMIM:616127 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Generalized hypotonia, Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progr... |
ORPHA:284332 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:615957 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar atrophy, Truncal ataxia |
OMIM:615268 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... |
OMIM:617862 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Alexander Disease |
|
Increased CSF protein, Hydrocephalus, Ataxia, Spasticity |
OMIM:203450 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Generalized hypotonia, Clumsiness, Spasticity, Ataxia, Cerebellar atrophy, Dysmetria... |
OMIM:608029 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:117210 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Joubert Syndrome 25 |
|
Generalized hypotonia, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:616781 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... |
OMIM:616053 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon |
OMIM:601374 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... |
ORPHA:423275 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Cerebral atrophy, Diffuse s... |
OMIM:613925 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Mi... |
OMIM:618709 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... |
OMIM:616948 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... |
OMIM:117360 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... |
OMIM:616192 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... |
ORPHA:98769 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... |
OMIM:618730 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... |
OMIM:613908 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia, Hypotonia |
ORPHA:1178 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Cogwheel rigidity, Tremor, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... |
ORPHA:363710 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Generalized neon... |
ORPHA:314978 |
| Adult Krabbe Disease |
|
Hemiplegia, Hoffmann sign, Clumsiness, Progressive spastic paraparesis, Impaired tactile sensatio... |
ORPHA:206448 |
| Lissencephaly 3 |
|
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... |
OMIM:611603 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis |
OMIM:611694 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Dysplastic corpus callo... |
OMIM:618276 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Inability to walk, Hypoplasia of the brainstem, Generalized hypotonia, Cerebellar hypoplasia, Ocu... |
OMIM:618273 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Cerebral calcification, Cerebral palsy |
ORPHA:99966 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... |
ORPHA:2703 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Generalized hypotonia, Abnormal posturing, Clumsiness, Incoordination, Chorea, Gait ... |
ORPHA:157941 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity |
OMIM:614322 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Simplified gyral... |
OMIM:613402 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Neonatal hypotonia, Action tremor, Ataxia, Cerebellar atrophy, Intention tremor |
OMIM:302500 |
| Pineocytoma |
|
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus |
ORPHA:251912 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria |
OMIM:616291 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Generalized hypotonia, Incoordination, Hypotonia, Limb ataxia, Cerebellar hy... |
OMIM:213200 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Generalized hypotonia, Gait disturbance, Cerebellar atrophy, Dysmetria... |
OMIM:618090 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... |
ORPHA:255182 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... |
OMIM:615768 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity |
OMIM:618876 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Inability to walk, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomega... |
OMIM:616486 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Cerebellar hypoplasia, Facial hypotonia, Ataxia |
OMIM:618383 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysdiadochokinesis, Hypoplasia of the brainstem, Gait ataxia, Truncal ataxia, Generalized hypoton... |
OMIM:224050 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia |
OMIM:615705 |
| Camos Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spasticity, A... |
ORPHA:83472 |
| Joubert Syndrome 31 |
|
Truncal ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Oculomotor apraxia, Molar to... |
OMIM:617761 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus |
OMIM:615938 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... |
ORPHA:453521 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Abnormal brainstem morpholo... |
ORPHA:1532 |
| Megalencephaly, Autosomal Dominant |
|
Megalencephaly, Hydrocephalus |
OMIM:155350 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... |
OMIM:610245 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Generalized hypotonia, Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:617916 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... |
ORPHA:2572 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... |
OMIM:611302 |
| Lissencephaly 5 |
|
Spastic paraplegia, Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypop... |
OMIM:615191 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Ataxia |
OMIM:617584 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Dystonia, Agenesis of corpus callosum, Hypertonia, Cerebellar hypopl... |
OMIM:619302 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Cerebellar atrophy, M... |
OMIM:614860 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Ataxia, Ankle clonus, Spastic gait, Lower limb spasticity, Cerebellar atrophy... |
OMIM:610357 |
| Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... |
OMIM:162350 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... |
OMIM:210000 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... |
ORPHA:300573 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... |
OMIM:613728 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... |
ORPHA:98756 |
| Developmental And Epileptic Encephalopathy 37 |
|
Choreoathetosis, Generalized hypotonia, Gait disturbance, Hyperkinetic movements, Cerebellar atro... |
OMIM:616981 |
| Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria |
OMIM:617770 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis |
OMIM:125370 |
| Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
| Meckel Syndrome 13 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Cerebellar hypoplasia, Ataxia |
OMIM:617562 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Inability to walk, Gait ataxia, Chorea, Muscular hypotonia of the trunk, Ataxia, Cerebellar vermi... |
OMIM:618501 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Progressive cerebellar ataxia, Somatic s... |
ORPHA:98763 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... |
OMIM:615937 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus, Hy... |
OMIM:612016 |
| Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Generalized hypotonia, Cerebellar vermis hypoplasia, Ocul... |
OMIM:609583 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... |
OMIM:615362 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... |
OMIM:616204 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Cerebellar hypoplasia, Spasticity, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Parti... |
OMIM:304100 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... |
OMIM:617542 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Ventriculomegaly... |
OMIM:613153 |
| Papilloma Of Choroid Plexus |
|
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... |
OMIM:270500 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Hypoplasia of the brainstem, Truncal ataxia, Ventriculomegaly, Hypertonia, Cerebellar hypoplasia,... |
OMIM:606854 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy |
ORPHA:284271 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance |
OMIM:611808 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Generalized hypotonia, Hypotonia, Cerebellar hypoplasia, Ataxia, Fasciculations, Hypoplasia of th... |
OMIM:607596 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... |
OMIM:600348 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... |
ORPHA:280195 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... |
ORPHA:370022 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... |
OMIM:617633 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Falls, Myoclonus, Ataxia |
OMIM:614937 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Spastic g... |
OMIM:607565 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Ataxia |
OMIM:600143 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Muscular hypotonia of the trunk, Ankle clonus, ... |
OMIM:617013 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Joubert Syndrome 24 |
|
Generalized hypotonia, Hypotonia, Gait disturbance, Cerebellar hypoplasia, Ataxia, Dysmetria, Spa... |
OMIM:616654 |
| Spinocerebellar Ataxia 28 |
|
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... |
OMIM:610246 |
| X-Linked Progressive Cerebellar Ataxia |
|
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... |
ORPHA:1175 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Myoclonus, Infantile muscular h... |
OMIM:612736 |
| Spinocerebellar Ataxia Type 17 |
|
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... |
ORPHA:98759 |
| Spinocerebellar Ataxia 5 |
|
Dysdiadochokinesis, Gait ataxia, Generalized hypotonia, Impaired vibratory sensation, Incoordinat... |
OMIM:600224 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... |
OMIM:618317 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:617120 |
| Bilateral Frontoparietal Polymicrogyria |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia... |
ORPHA:101070 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait |
OMIM:618387 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:610743 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... |
OMIM:605361 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Abnormal pyramidal sign, Head titubati... |
OMIM:617560 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... |
ORPHA:352682 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Progressive cerebellar ataxia, Dysm... |
ORPHA:314603 |
| Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia |
OMIM:616267 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Musc... |
OMIM:614831 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Gait ataxia, Difficulty walking, Poor fine motor coordination, Infantile axial hypotonia, Cerebel... |
ORPHA:512260 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar at... |
ORPHA:248111 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Cerebellar hypoplasia, Ataxia, Hypotonia |
ORPHA:2246 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Joubert Syndrome 32 |
|
Oculomotor apraxia, Ataxia, Abnormal cerebellum morphology, Polymicrogyria, Molar tooth sign on MRI |
OMIM:617757 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine |
OMIM:300539 |
| Spinocerebellar Ataxia Type 29 |
|
Dysdiadochokinesis, Gait ataxia, Generalized hypotonia, Oculomotor apraxia, Ataxia, Cerebellar at... |
ORPHA:208513 |
| Ravine Syndrome |
|
Ataxia, Abnormality of the basal ganglia, Abnormal brainstem morphology, Atrophy/Degeneration aff... |
ORPHA:99852 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... |
ORPHA:284324 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:94090 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:617767 |
| Fried Syndrome |
|
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Cerebral calcification, Hydro... |
ORPHA:85335 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... |
OMIM:609270 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... |
OMIM:604326 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Limb dystonia, Babinski... |
OMIM:619054 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Spinocerebellar Ataxia 44 |
|
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity |
OMIM:617691 |
| Spinocerebellar Ataxia Type 26 |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... |
ORPHA:101112 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Cerebellar ... |
OMIM:225790 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... |
OMIM:617225 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... |
OMIM:617145 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torsion dystonia, Tremor, Generalized hypotonia, Abnormal posturing, Hypertonia, Blepharospasm, W... |
OMIM:128100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of ... |
OMIM:613154 |
| Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls |
OMIM:615217 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... |
OMIM:619028 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity, Dystonia, Tetraparesis, Ataxia, Abnormality of the basal... |
ORPHA:263410 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... |
ORPHA:225147 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Cerebe... |
ORPHA:98 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... |
OMIM:616719 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, D... |
OMIM:610333 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Difficulty walking, Ataxia, Abnormal cerebellum morphology, Babinski sign, Spasticity |
OMIM:618242 |
| Masa Syndrome |
|
Spastic paraplegia, Hydrocephalus, Ventriculomegaly, Lower limb spasticity, Microcephaly, Paraple... |
OMIM:303350 |
| Coach Syndrome 2 |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign o... |
OMIM:619111 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... |
ORPHA:216866 |
| Central Neurocytoma |
|
Lethargy, Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Babinsk... |
ORPHA:73256 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... |
ORPHA:98772 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria |
OMIM:256731 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity |
OMIM:615386 |
| Pettigrew Syndrome |
|
Gait ataxia, Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Choreoat... |
OMIM:304340 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... |
ORPHA:397946 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia |
ORPHA:99879 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
| Joubert Syndrome 17 |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy |
OMIM:609306 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... |
OMIM:617622 |
| Spinocerebellar Ataxia 13 |
|
Gait ataxia, Generalized hypotonia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progres... |
OMIM:605259 |
| Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... |
OMIM:600223 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired distal proprioception, Pain insensitivity, Ataxia, Cerebellar vermis atrophy, Impaired v... |
ORPHA:94124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus |
OMIM:614830 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... |
OMIM:616795 |
| Spinocerebellar Ataxia Type 1 |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... |
ORPHA:98755 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Spastic gait, Lower limb s... |
OMIM:609195 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:146200 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Generalized hypotonia, Ataxia, Cerebellar atrophy, Dysmetria, Choreoathetosis, Spasticity |
OMIM:618088 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Upper limb spasticity, Increased CSF lactate, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar... |
OMIM:611523 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Tremor, Generalized hypotonia, Arnold-Chiari type I malformation, Ataxia, Bradykinesia,... |
OMIM:617836 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... |
ORPHA:352403 |
| Spinocerebellar Ataxia 34 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... |
OMIM:133190 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia |
OMIM:612020 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Microcep... |
OMIM:300884 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... |
OMIM:612319 |
| Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria |
ORPHA:98771 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Impaired vibratory sensation, Paresthesia, Hand tremor, Impaired temperature sen... |
ORPHA:99947 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Muscular hypotonia of the trunk, Ataxi... |
OMIM:618598 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Secondary mic... |
OMIM:618404 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... |
OMIM:615181 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Cerebellar atrophy, Ataxia, Distal sensory impairment |
OMIM:607250 |
| Spinocerebellar Ataxia 17 |
|
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Limb ataxia, Chorea, Ataxia, Bradykinesia,... |
OMIM:607136 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Myoclonus, Microcephaly, Hydrocephalus, Dandy-Walker ma... |
OMIM:617281 |
| Peroxisome Biogenesis Disorder 5B |
|
Tremor, Generalized hypotonia, Neonatal hypotonia, Oculomotor apraxia, Ataxia, Unsteady gait, Cer... |
OMIM:614867 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Ataxia, Dilated fou... |
ORPHA:1170 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Generalized hypotonia, Chorea, Cerebellar vermis hypop... |
ORPHA:251347 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncu... |
OMIM:610688 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Abnormal posturing, Spasticity |
OMIM:304700 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Dysmetria, Babin... |
OMIM:618093 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Hypoplasia of the brainstem, Dystonia, Clonus, Chorea, Ventriculomegaly, Hypoplasia of the corpus... |
OMIM:612389 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617967 |
| Uremic Pruritus |
|
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Oculomotor apraxia, Ataxia, Elong... |
OMIM:608629 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function,... |
OMIM:615159 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Choreoathetosis, Tremor, Muscular hypotonia of the trunk, Ataxia, Cerebellar atrophy, R... |
OMIM:612438 |
| Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
|
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... |
OMIM:220219 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia |
OMIM:614229 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Dystonia, Generalized hypotonia, Difficulty walking, Abnormal pyramidal sign, Head titubation, At... |
ORPHA:527497 |
| Orofaciodigital Syndrome Xv |
|
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
| Null Syndrome |
|
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Ataxia, Abnormal cerebel... |
ORPHA:280234 |
| Joubert Syndrome 2 |
|
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... |
OMIM:608091 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Inability to walk, Intention tremor, Loss of ability to walk, Muscular hypotonia of the trunk, Ab... |
OMIM:610532 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Oculomotor apraxia, Agenesis of cer... |
OMIM:615665 |
| Congenital Disorder Of Glycosylation, Type Iii |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Truncal ataxia, Hypotonia |
OMIM:613612 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Joubert Syndrome 15 |
|
Generalized hypotonia, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Hypotonia |
OMIM:614464 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Agenesis of corpus callosum, Typ... |
ORPHA:370959 |
| Arnold-Chiari Malformation Type Ii |
|
Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Paraparesis, Ventriculom... |
ORPHA:1136 |
| Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Brainstem dysplasia, Oculomotor apraxia, Ataxia, Abnormal corpus cal... |
OMIM:611560 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Spinocerebellar Ataxia Type 8 |
|
Dystonia, Gait ataxia, Hypoplasia of the pons, Impaired vibratory sensation, Limb ataxia, Ataxia,... |
ORPHA:98760 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... |
OMIM:220220 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Hypotonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremo... |
ORPHA:280219 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... |
OMIM:615157 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... |
OMIM:213600 |
| Spinocerebellar Ataxia 27 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... |
OMIM:609307 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus |
ORPHA:26 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Micro... |
ORPHA:1528 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Ankle clonus, Unsteady gait, Cerebellar atrophy, Impaired vibration sensation in the lowe... |
OMIM:159550 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Bile duct proliferatio... |
OMIM:611134 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... |
OMIM:614487 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... |
OMIM:615287 |
| Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ventriculomegaly, ... |
OMIM:618476 |
| Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
| Slc35A2-Cdg |
|
Inability to walk, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the... |
ORPHA:356961 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Spastic paraplegia, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cerebellar atrophy, Dysm... |
OMIM:615491 |
| Spinocerebellar Ataxia 36 |
|
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... |
OMIM:614153 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Oculomotor apraxia, Ataxia, Elongated superior cerebellar peduncle,... |
OMIM:618161 |
| Familial Paroxysmal Ataxia |
|
Hemiplegia, Dystonia, Ataxia, Torticollis, Cerebellar vermis atrophy |
ORPHA:97 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:617121 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Sensory ataxia, Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degener... |
ORPHA:445062 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Gait ataxia, Poor fine motor coordination, Abnormal pyramidal sign, Cerebellar vermis hypoplasia,... |
OMIM:618800 |
| Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Generalized hypotonia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, To... |
ORPHA:98768 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Joubert Syndrome With Renal Defect |
|
Tremor, Agenesis of corpus callosum, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor a... |
ORPHA:220497 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Spastic paraplegia, Hydrocephalus, Absent septum pellucidum, Aqueductal stenosis, Agenesis of cor... |
OMIM:307000 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hemiplegia/hemip... |
ORPHA:2182 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... |
ORPHA:157846 |
| Encephalopathy, Recurrent, Of Childhood |
|
Lethargy, Generalized hypotonia, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention... |
OMIM:130950 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Ventriculomegaly, Cerebellar malformation, Hydrocephalus |
ORPHA:324416 |
| Secondary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:90363 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Refractory Celiac Disease |
|
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia |
ORPHA:398063 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... |
ORPHA:98773 |
| Papillary Tumor Of The Pineal Region |
|
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus |
ORPHA:251915 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Generalized hypotonia, Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Spasticity |
OMIM:618426 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Dandy-Walker malformation |
OMIM:614465 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia |
OMIM:256300 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Clumsiness, Impaired vibratory sensation, Neonatal hypotonia, Gait disturbance, Ataxia, Ankle clo... |
ORPHA:88644 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles, Aplasia/Hypoplasia of... |
OMIM:300864 |
| Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spinocerebellar atrophy, Ataxia, Cerebellar atrophy, Intention tremor, Spasticity |
OMIM:215470 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Cerebellar vermis atrophy, Tongue thrusting, Diffuse cerebral atrophy, A... |
ORPHA:77299 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:613155 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormal midbrain morphology,... |
ORPHA:79139 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Lower limb spasticity, Cer... |
OMIM:604391 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Cerebral atrophy, Babinski sign, Seco... |
ORPHA:397951 |
| Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
| Fanconi Anemia, Complementation Group R |
|
Microcephaly, Hydrocephalus |
OMIM:617244 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebe... |
ORPHA:163961 |
| Spinocerebellar Ataxia Type 36 |
|
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Loss... |
ORPHA:276198 |
| Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Enlarged fossa in... |
OMIM:213300 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
| Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus |
ORPHA:945 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spasticity, Titu... |
ORPHA:280210 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:619113 |
| Chiari Malformation Type Ii |
|
Spina bifida, Agenesis of corpus callosum, Ataxia, Opisthotonus, Arnold-Chiari malformation, Myel... |
OMIM:207950 |
| Hemangioblastoma |
|
Cerebellar edema, Cerebellar hemangioblastoma, Hydrocephalus, Dysesthesia |
ORPHA:252054 |
| Developmental And Epileptic Encephalopathy 5 |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Atr... |
OMIM:613477 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Arnold-Chiari malformation |
ORPHA:261102 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Cystinuria |
ORPHA:163693 |
| Pontocerebellar Hypoplasia Type 10 |
|
Hypertonia, Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex mor... |
ORPHA:411493 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Generalized hypotonia, Abnormal posturing, Hypotonia |
OMIM:614857 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Lethargy, Abnormal midbrain morphology, Abnormal hypotha... |
ORPHA:68 |
| Joubert Syndrome With Ocular Defect |
|
Tremor, Agenesis of corpus callosum, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor a... |
ORPHA:220493 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Spastic paraplegia, Generalized hypotonia, Impaired vibratory sensation, Abnormal pyramidal sign,... |
ORPHA:459056 |
| Congenital Analbuminemia |
|
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia |
ORPHA:86816 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Gait ataxia, Hypertonia, Muscular hypotonia of the trunk, Abnormal cerebellum morphology,... |
OMIM:618056 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... |
OMIM:607454 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
| Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:612526 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... |
OMIM:267700 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Achondroplasia |
|
Megalencephaly, Hydrocephalus, Brain stem compression |
OMIM:100800 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Positive Romberg sign, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy |
OMIM:614575 |
| Nasu-Hakola Disease |
|
Chorea, Ventriculomegaly, Oculomotor apraxia, Cerebral cortical atrophy, Cerebral calcification, ... |
ORPHA:2770 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Paresthesia, Abnormality of extrapyramidal motor function, ... |
ORPHA:79279 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Hypercalcemia, Aminoaciduria |
OMIM:239200 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Dystonia, Type II lissencepha... |
ORPHA:300570 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... |
ORPHA:2185 |
| Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hypertonia, Gait disturbance, Meningocel... |
ORPHA:588 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... |
ORPHA:247585 |
| Joubert Syndrome With Oculorenal Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign... |
ORPHA:2318 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Hypertonia, Gait dis... |
ORPHA:88619 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
| Orofaciodigital Syndrome Xvi |
|
Inability to walk, Ventriculomegaly, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617563 |
| Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Ataxia, Abnormality of the diencephalon, Abnorm... |
ORPHA:2720 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
| Spinocerebellar Ataxia Type 42 |
|
Gait ataxia, Impaired vibration sensation at ankles, Head tremor, Resting tremor, Abnormal cerebe... |
ORPHA:458803 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Poretti-Boltshauser Syndrome |
|
Generalized hypotonia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Oculo... |
OMIM:615960 |
| Gillespie Syndrome |
|
