| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia |
OMIM:209100 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Appendicular hypotonia |
OMIM:619333 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Hypotonia, Cerebellar agenesis |
ORPHA:1397 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Spastic Paraplegia 88, Autosomal Dominant |
|
Lower limb spasticity, Agenesis of cerebellar vermis, Unsteady gait, Babinski sign, Sensory ataxi... |
OMIM:620106 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Generalized hypotonia, Truncal ataxia, Nonp... |
ORPHA:94122 |
| Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Tremor, Ataxia, Hypotonia |
OMIM:213000 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
| Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Rigidity, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Difficulty walking, Generalized hypotonia, Cerebellar vermis atrophy |
ORPHA:363432 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia,... |
OMIM:608029 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inabili... |
OMIM:619389 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Joubert Syndrome 25 |
|
Ataxia, Cerebellar hypoplasia, Generalized hypotonia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:616781 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ataxia, Spastic tetraparesis, Inability to walk, Death in adolescence, Hypoplasia of the brainste... |
OMIM:616486 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ataxia, Hypotonia, Gait disturbance |
ORPHA:1178 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Hypotonia, Limb ataxia, Impai... |
OMIM:117360 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Hypotonia, Intention tremor, Abnormality of extrapyram... |
OMIM:302500 |
| Alexander Disease |
|
Death in infancy, Abnormal dentate nucleus morphology, Ataxia, Hydrocephalus, Babinski sign, Dysm... |
OMIM:203450 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga... |
OMIM:616127 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypo... |
OMIM:224050 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Ataxia, Hypotonia, Cerebellar hypoplasia, Spasticity |
OMIM:618383 |
| Nescav Syndrome |
|
Appendicular spasticity, Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Babinski... |
OMIM:614255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology |
ORPHA:2703 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:617562 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... |
ORPHA:453521 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Spastic tetraplegia, Hy... |
OMIM:619302 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... |
OMIM:616230 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
| Camos Syndrome |
|
Ataxia, Hypotonia, Progressive extrapyramidal movement disorder, Aplasia/Hypoplasia of the cerebe... |
ORPHA:83472 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Limb ataxia, ... |
OMIM:213200 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy... |
ORPHA:1532 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... |
ORPHA:2572 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Loss of ambulation, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:600143 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Axial hypotonia, Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia... |
OMIM:618501 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Adult Krabbe Disease |
|
Increased CSF protein concentration, Somatic sensory dysfunction, Abnormal medulla oblongata morp... |
ORPHA:206448 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia |
ORPHA:99966 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Rigidity, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Dys... |
OMIM:616204 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Rigidity, Inability to walk, Tremor, Hypotonia,... |
OMIM:618090 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
| Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb... |
OMIM:605259 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Hypotonia, Generalized hypotonia, Oculomotor apraxia, Elong... |
OMIM:609583 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Positive Romber... |
OMIM:618088 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Unsteady gait, Hypotonia, Choreoathetosis, Gait imba... |
OMIM:301020 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Head titubation, Abnorm... |
ORPHA:370022 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
| Joubert Syndrome 31 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia |
OMIM:617761 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Inability to walk, Unsteady gait, Hypoplasia of the brainstem, Cere... |
OMIM:618273 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... |
OMIM:611302 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Axial hypotonia, Ataxia, Tremor, Inability to walk,... |
OMIM:614831 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... |
OMIM:617916 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... |
ORPHA:98759 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... |
OMIM:617954 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Oc... |
ORPHA:208513 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypoplasia of the brainstem, Hyper... |
OMIM:618174 |
| Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Hypot... |
OMIM:600224 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Hypotonia, Choreoathetosis, Limb dy... |
OMIM:619054 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
| Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
| Joubert Syndrome 24 |
|
Ataxia, Hypotonia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity |
OMIM:616654 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Titubat... |
ORPHA:225147 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Truncal ataxia, Limb a... |
OMIM:617560 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Increased CSF la... |
ORPHA:255182 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a... |
ORPHA:248111 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer... |
ORPHA:98 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Agenesis of corpus callosum, Mol... |
OMIM:619111 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... |
OMIM:607346 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Gait ataxia |
OMIM:617915 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:610688 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
| Masa Syndrome |
|
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Agenesis of... |
OMIM:303350 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft, Hemiparesis, Agene... |
OMIM:617542 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance... |
ORPHA:216866 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Head titubation, Hypotonia, Gait ataxia, Cerebellar h... |
OMIM:620208 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl... |
OMIM:617622 |
| Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Broad-based gait, Hypoplasia of the pons, Babinski sign, Dysmetria, Ankle clonus, Hypoplasia of t... |
OMIM:606854 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasi... |
OMIM:613153 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
| Joubert Syndrome 32 |
|
Oculomotor apraxia, Abnormal cerebellum morphology, Ataxia, Molar tooth sign on MRI |
OMIM:617757 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Cerebellar hypoplasia, Inferi... |
OMIM:304100 |
| Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati... |
ORPHA:99947 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Death in infancy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia,... |
OMIM:616034 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... |
OMIM:604391 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Hypotonia,... |
ORPHA:1170 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... |
ORPHA:73256 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Imp... |
ORPHA:98755 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Lateral ventricle dilatat... |
OMIM:608629 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem, Cere... |
OMIM:613155 |
| Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Hypopla... |
OMIM:615191 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Gait ataxia, Generalized hypotonia |
OMIM:614306 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Abnormal pyramidal sign,... |
ORPHA:280219 |
| Joubert Syndrome 27 |
|
Axial hypotonia, Ataxia, Hypotonia, Gait ataxia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:617120 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, ... |
OMIM:183090 |
| Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hypotonia, Truncal ataxia |
OMIM:613612 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor |
ORPHA:363717 |
| Joubert Syndrome 33 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617767 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Null Syndrome |
|
Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff... |
ORPHA:280234 |
| Joubert Syndrome 15 |
|
Oculomotor apraxia, Exencephaly, Ataxia, Molar tooth sign on MRI |
OMIM:614464 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... |
OMIM:615181 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Joubert Syndrome 16 |
|
Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain, Cerebellar hypoplasia |
OMIM:616202 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Cerebellar vermis hypoplasia, Truncal titubation, Abnormal pyramidal sign, Gait ataxia, Poor fine... |
OMIM:618800 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... |
OMIM:618598 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... |
OMIM:614487 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga... |
ORPHA:98768 |
| Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Joubert Syndrome 28 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:617121 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
| Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, H... |
OMIM:614153 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616267 |
| Band Heterotopia |
|
Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom... |
OMIM:600348 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Axial hypotonia, Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyra... |
OMIM:610532 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Impaired temperature sensation, Impaired distal proprioception, Abnormal b... |
ORPHA:320365 |
| Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,... |
OMIM:618161 |
| Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Oculomotor apraxia, Mola... |
OMIM:611560 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Spasticity, ... |
OMIM:610333 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu... |
ORPHA:220497 |
| Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Chiari ... |
OMIM:207950 |
| Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ... |
ORPHA:370959 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Titubation, Cerebella... |
ORPHA:280210 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220220 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:1528 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... |
ORPHA:2182 |
| Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Ocul... |
ORPHA:467166 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
| Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum |
OMIM:307000 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Spasticity, Dystonia |
OMIM:304700 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Coach Syndrome 3 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:619113 |
| Hemangioblastoma |
|
Dysesthesia, Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Hydrocephalus, Spastic tetraparesis |
OMIM:619470 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemi... |
ORPHA:300573 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Cerebellar malformation, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Bile duct ... |
OMIM:611134 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... |
OMIM:614815 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu... |
ORPHA:220493 |
| Joubert Syndrome 22 |
|
Oculomotor apraxia, Agenesis of cerebellar vermis, Molar tooth sign on MRI |
OMIM:615665 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:225790 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem... |
OMIM:608091 |
| Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus... |
OMIM:614424 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Joubert Syndrome 20 |
|
Oculomotor apraxia, Inability to walk, Molar tooth sign on MRI |
OMIM:614970 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Chiari malformation, Frontal encephalocele |
ORPHA:261102 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
| Joubert Syndrome 9 |
|
Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
| Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencepha... |
ORPHA:588 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function |
OMIM:300884 |
| Gillespie Syndrome |
|
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia, Generalized h... |
OMIM:206700 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Gait disturbance |
ORPHA:26 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Spastic tetraparesis, Inability to walk, Latera... |
ORPHA:356961 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Cerebellar hypoplasia, Neonatal death, Spasticity, Ventriculomegaly |
OMIM:613730 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Babinski sign, Sensory ataxia, Gait ataxia, Atrophy/Degeneration affecting th... |
ORPHA:445062 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis,... |
OMIM:614969 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn... |
ORPHA:163961 |
| Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617563 |
| Joubert Syndrome 40 |
|
Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:619582 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormal brainstem morphology, Paresthesia, Myoc... |
ORPHA:79279 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Truncal titubation, Abnormal c... |
OMIM:618056 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity |
ORPHA:275543 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:250994 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Mo... |
OMIM:619562 |
| Joubert Syndrome 17 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:614615 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunction, Abnormal mi... |
ORPHA:79139 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Ataxia, Hypertonia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:612291 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... |
OMIM:619911 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Molar tooth sign on MRI |
ORPHA:2318 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar ver... |
OMIM:213300 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia ... |
OMIM:216360 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Nasu-Hakola Disease |
|
Chorea, Hydrocephalus, Oculomotor apraxia, Spasticity, Ventriculomegaly |
ORPHA:2770 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Pontocerebellar Hypoplasia Type 10 |
|
Spasticity, Hypertonia, Abnormal brainstem morphology |
ORPHA:411493 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I malformatio... |
OMIM:618476 |
| Lennox-Gastaut Syndrome |
|
Falls, Myoclonus, Abnormal brainstem morphology |
ORPHA:2382 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus |
OMIM:615599 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Death in infancy, Encephalocele, Partial absence of cerebellar vermis, Hydr... |
OMIM:613150 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus |
ORPHA:397951 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Hydrocephalus, Abnormal brainstem morphology, Hypertonia, Aplasia/Hypoplasia of the cereb... |
ORPHA:2720 |
| Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Gait ataxia, ... |
OMIM:304340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... |
OMIM:613154 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br... |
OMIM:619306 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal cerebrospin... |
ORPHA:68 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Joubert Syndrome 37 |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619185 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morp... |
ORPHA:397715 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Limb hy... |
OMIM:614219 |
| Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor... |
ORPHA:59315 |
| Hogue-Janssen Syndrome 2 |
|
Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Craniofacial Dyssynostosis With Short Stature |
|
Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Ataxia, Hydrocephalus |
ORPHA:65285 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel... |
OMIM:610188 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Spastic tetrapl... |
ORPHA:88619 |
| Medulloblastoma |
|
Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Inten... |
ORPHA:616 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:31 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ventr... |
OMIM:272200 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Rigidity, ... |
ORPHA:97349 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
| Pallister-Hall-Like Syndrome |
|
Chiari type I malformation, Death in infancy, Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradyki... |
ORPHA:289560 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Postural tremor, Rigidit... |
ORPHA:98808 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:615249 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Ventri... |
OMIM:617281 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... |
ORPHA:370997 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Cerebellar vermis hypoplasia, Hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:609757 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypertonia, Hydrocephalus, Chiari malformation, Spastic tetraparesis |
ORPHA:171839 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brain... |
OMIM:617822 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
| Krabbe Disease |
|
Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity, Increased CSF protein co... |
OMIM:245200 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Hypotonia |
OMIM:614857 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Spastic tetraplegia |
OMIM:300886 |
| Dural Sinus Malformation |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myelopathy, Po... |
ORPHA:97339 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation |
ORPHA:93262 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu... |
ORPHA:475 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:272 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Chi... |
ORPHA:268810 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Inability to walk, Partial agenesis of... |
ORPHA:300570 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydro... |
OMIM:614643 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Inability to wal... |
ORPHA:2356 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial agen... |
OMIM:619895 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... |
OMIM:616546 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
| 47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... |
ORPHA:8 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus |
OMIM:620157 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly |
OMIM:615630 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
| Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
| Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Br... |
OMIM:243910 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Hypoplasia of the brainstem, Cerebell... |
OMIM:253800 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Joubert Syndrome 38 |
|
Oculomotor apraxia, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Molar to... |
OMIM:619476 |
| Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia |
ORPHA:207 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Ataxia, Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:619833 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... |
ORPHA:1908 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Lower limb spasticity, Agenesis of corpus callosum, Abnormal midbrain morphology |
ORPHA:314621 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Death in childhood |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Clumsiness |
OMIM:300558 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus, Clumsiness |
OMIM:619320 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebell... |
ORPHA:1647 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI |
ORPHA:2754 |
| Arachnoiditis |
|
Hydrocephalus, Paresthesia |
ORPHA:137817 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly |
ORPHA:60040 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the... |
OMIM:236670 |
| Unilateral Polymicrogyria |
|
Axial hypotonia, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordin... |
ORPHA:268943 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Bresek Syndrome |
|
Neonatal death, Hydrocephalus |
ORPHA:85284 |
| B4Galt1-Cdg |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:79332 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Griscelli Syndrome |
|
Encephalocele, Spasticity, Ataxia, Hydrocephalus |
ORPHA:381 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Alexander Disease |
|
Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis... |
ORPHA:25 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Molar tooth sign on MRI, Ventr... |
OMIM:619479 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc... |
ORPHA:1454 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:616300 |
| Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:2836 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Death in infancy, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosu... |
ORPHA:1812 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Hypertonia, Dandy-Walker malformation, Death in childhood |
OMIM:612938 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Agenesis of corpu... |
OMIM:243605 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Gait disturbance, Sp... |
ORPHA:395 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus |
ORPHA:398189 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:1895 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly |
OMIM:217090 |
| Methylcobalamin Deficiency Type Cble |
|
Lower limb hypertonia, Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem |
ORPHA:2169 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Abnormal cer... |
ORPHA:899 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
| Amelocerebrohypohidrotic Syndrome |
|
Spasticity, Hydrocephalus |
ORPHA:1946 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Gait disturbance |
OMIM:613330 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Vici Syndrome |
|
Abnormal posturing, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypotonia |
OMIM:242840 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:261344 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Spasticity |
OMIM:618590 |
| Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia |
OMIM:620155 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Abnormal cerebellum morphology, Myelopathy, Unsteady gait, Hydroceph... |
ORPHA:637 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
| 3C Syndrome |
|
Death in infancy, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation,... |
ORPHA:7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:300514 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia, Agenesis of corpus ... |
OMIM:277170 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:620156 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus |
OMIM:617244 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Emanuel Syndrome |
|
Hydrocephalus, Chiari malformation, Dandy-Walker malformation, Agenesis of corpus callosum, Ventr... |
ORPHA:96170 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:613001 |
| Tenorio Syndrome |
|
Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Ventriculomegaly |
OMIM:616260 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... |
OMIM:249000 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus |
OMIM:187600 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Paresthesia, Abnormal brainstem morphology |
ORPHA:251937 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Emanuel Syndrome |
|
Torticollis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:609029 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:264480 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus |
OMIM:314390 |
| Congenital Myopathy 22A, Classic |
|
Neonatal death, Frequent falls, Normal pressure hydrocephalus, Waddling gait |
OMIM:620351 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Fg Syndrome Type 1 |
|
Abnormal cerebellum morphology, Broad-based gait, Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus |
OMIM:613686 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Wilson Disease |
|
Poor motor coordination, Tremor, Hypoesthesia, Rigidity, Hand tremor, Face of the giant panda sig... |
OMIM:277900 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Tetraplegia, Cerebellar hypoplasia, Agenesis of corpus callosum,... |
OMIM:257300 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephal... |
OMIM:619512 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Clonus, Hydrocephalus, Spastic tetraplegia, Hypertonia, Stillbirth, Ventriculomegaly, Limb hypert... |
OMIM:259720 |
| Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
| Cerebral Visual Impairment |
|
Oculomotor apraxia, Hydrocephalus, Cerebral palsy, Clumsiness |
ORPHA:447788 |
| Whipple Disease |
|
Hydrocephalus, Ataxia, Abnormal pyramidal sign, Myoclonus |
ORPHA:3452 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Desmosterolosis |
|
Rigidity, Hydrocephalus, Hypertonia, Spasticity, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:35107 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Apert Syndrome |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of th... |
OMIM:620305 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callos... |
OMIM:612651 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Monosomy 18Q |
|
Choreoathetosis, Hydrocephalus, Poor coordination, Cerebellar hypoplasia |
ORPHA:1600 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Tetrasomy 5P |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:3309 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, C... |
OMIM:615948 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Hydrocephalus |
OMIM:616482 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Ataxia, Hydrocephalus |
ORPHA:220295 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus |
OMIM:612863 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Myoclonus, Cerebellar hypoplasi... |
OMIM:253280 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus |
OMIM:239300 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:157 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Aminoaciduria, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hy... |
ORPHA:534 |
| Trisomy 17P |
|
Hydrocephalus, Hypertonia |
ORPHA:261290 |
| Familial Cerebral Saccular Aneurysm |
|
Hemiparesis, Abnormal brainstem morphology |
ORPHA:231160 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Gait disturbance, Ventriculomegaly |
ORPHA:500055 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Facial paralysis |
OMIM:259710 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Olivopontocerebellar hypoplasia |
ORPHA:457284 |
| Idiopathic Juvenile Osteoporosis |
|
Gait disturbance |
ORPHA:85193 |
| Achondroplasia |
|
Death in infancy, Hydrocephalus, Brain stem compression |
OMIM:100800 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia |
ORPHA:168577 |
| Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Abnormal cerebellum morphology, Hydroc... |
ORPHA:2495 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dilat... |
ORPHA:434179 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus |
OMIM:602361 |
| Lowry-Maclean Syndrome |
|
Hemiparesis, Hydrocephalus |
ORPHA:2409 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Miscarriage |
ORPHA:1865 |
| Adams-Oliver Syndrome |
|
Hemiparesis, Encephalocele, Hypertonia, Hydrocephalus |
ORPHA:974 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
| Lateral Meningocele Syndrome |
|
Chiari type I malformation, Hydrocephalus, Meningocele |
OMIM:130720 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... |
OMIM:610828 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chiari type I malformation, Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus |
OMIM:619575 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Desmosterolosis |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Ventriculomegaly |
OMIM:602398 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Facial paralysis |
OMIM:259700 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Unsteady gait, Dysmetria, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:96121 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Lateral ventricle dilatation, Hydrocephalus, Death in childhood |
OMIM:612301 |
| Holoprosencephaly |
|
Encephalocele, Chorea, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:2162 |
| Apert Syndrome |
|
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Ve... |
OMIM:101200 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Hypertonia, Gait disturbance,... |
ORPHA:581 |
| Hurler Syndrome |
|
Death in infancy, Cerebral palsy, Hydrocephalus, Abnormal pyramidal sign, Spastic paraparesis |
ORPHA:93473 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Hydrocephalus, Distal sensory impairment |
OMIM:616007 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Distal Triplication 15Q |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Chiari malformation |
OMIM:618162 |
| Marshall-Smith Syndrome |
|
Hydrocephalus, Hypertonia, Cerebellar hypoplasia, Death in childhood, Agenesis of corpus callosum... |
OMIM:602535 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo... |
OMIM:605627 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Ataxia |
OMIM:616084 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Chiari malformation |
ORPHA:3205 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
| Histiocytoid Cardiomyopathy |
|
Hemiplegia, Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Spastic paraplegia, Clumsiness, Chiari m... |
ORPHA:309282 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Impaired pain sensation |
ORPHA:293987 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,... |
OMIM:619475 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Raine Syndrome |
|
Neonatal death, Death in infancy, Hydrocephalus |
OMIM:259775 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
ORPHA:90652 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Chiari malformation, Ventriculomegaly |
ORPHA:77301 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Ankle clonus, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Paresthesia |
ORPHA:579 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia |
ORPHA:2166 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hydrocephalus, Hypertonia |
OMIM:115150 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Mirage Syndrome |
|
Hydrocephalus, Paraplegia |
OMIM:617053 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Chiari type I malformation, Hydrocephalus |
OMIM:182212 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Osteogenesis Imperfecta, Type Xv |
|
Hypoplasia of the pons, Cerebellar hypoplasia |
OMIM:615220 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Marden-Walker Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Abnormal cerebellar vermis mor... |
ORPHA:2461 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Ventriculome... |
ORPHA:457359 |
| Alobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Abnormal bra... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Abnormal bra... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Abnormal bra... |
ORPHA:93924 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
| Semilobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxia, Abnormal bra... |
ORPHA:220386 |
| Gaucher Disease |
|
Death in infancy, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyra... |
ORPHA:355 |
| Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity |
OMIM:305450 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Partial agenesis o... |
OMIM:210710 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Chi... |
OMIM:270400 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomot... |
ORPHA:2072 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
| Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Brain stem co... |
ORPHA:666 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Poor fine motor coordination, Hydrocephalus, Ataxia |
ORPHA:79282 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Cerebellar cyst |
OMIM:311200 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function |
OMIM:277400 |
| Aymé-Gripp Syndrome |
|
Chiari type I malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus |
OMIM:309900 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculome... |
OMIM:216400 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:250989 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Stillbirth, Chiari malformation |
ORPHA:95699 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Cockayne Syndrome B |
|
Ataxia, Cerebellar calcifications, Tremor, Normal pressure hydrocephalus, Death in childhood |
OMIM:133540 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Chiari malformation, Ventriculomegaly |
ORPHA:2462 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Cerebellar hypoplasia |
OMIM:614083 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Spina bifida, Hydrocephalus, Chiari type I malformation, Agenesis of corpus callo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Spina bifida, Hydrocephalus, Chiari type I malformation, Agenesis of corpus callo... |
ORPHA:363958 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus |
OMIM:253220 |
| Hurler Syndrome |
|
Hydrocephalus |
OMIM:607014 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Stillbirth, Cerebellar hypoplasia |
OMIM:208150 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
| Jacobsen Syndrome |
|
Hydrocephalus, Spasticity, Holoprosencephaly |
OMIM:147791 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hydrocephalus |
ORPHA:505248 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
| Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
OMIM:306955 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:309801 |
| Mend Syndrome |
|
Hydrocephalus, Hypertonia, Dandy-Walker malformation |
OMIM:300960 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163979 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Limb hypertonia |
ORPHA:401973 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
| Osteopathia Striata With Cranial Sclerosis |
|
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus |
OMIM:300373 |
| Fontaine Progeroid Syndrome |
|
Death in infancy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Neonatal death |
OMIM:612289 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Hydrocephalus |
ORPHA:536467 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Agenesis of corpus callosum, Dand... |
OMIM:264090 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spastici... |
OMIM:175780 |
| Split Cord Malformation |
|
Paraparesis, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meningocele, Cervical spina b... |
ORPHA:573278 |
| Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... |
ORPHA:228123 |
| H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
| Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hypertonia, Cerebellar ... |
ORPHA:3455 |
| Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventriculomegaly, Gait disturbance, Abnormal brainstem morphology |
ORPHA:464311 |
| Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus, Chiari malformation |
ORPHA:955 |
| Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:227646 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Hydrolethalus Syndrome 1 |
|
Anencephaly, Stillbirth, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malforma... |
OMIM:236680 |
| Costello Syndrome |
|
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly |
OMIM:218040 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus |
OMIM:253200 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Poor coordination, Limb tremor, Mild f... |
OMIM:619841 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Cerebellar cortical atrophy |
OMIM:619321 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosencephaly |
OMIM:610829 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
| Oeis Complex |
|
Myelomeningocele, Chiari malformation, Hydrocephalus |
OMIM:258040 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus, Ataxia, Paresthesia |
ORPHA:636 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2658 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Kabuki Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Chiari malformation |
OMIM:609192 |
| 22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele |
ORPHA:567 |
| Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
| Baller-Gerold Syndrome |
|
Spina bifida occulta, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:218600 |
| Microphthalmia With Limb Anomalies |
|
Death in infancy, Hydrocephalus |
ORPHA:1106 |
| Yunis-Varon Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:3472 |
| Fanconi Anemia |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:84 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:305600 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
OMIM:102500 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hydrocephalus |
ORPHA:667 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2556 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Lower limb dysmetria |
ORPHA:363700 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus |
ORPHA:221120 |
| Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:194190 |
| Coffin-Siris Syndrome 12 |
|
Chiari malformation, Enlarged cerebellum, Noncommunicating hydrocephalus |
OMIM:619325 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Gait disturbance |
ORPHA:3042 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Chiari malformation |
OMIM:610168 |
| Tetrasomy 9P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus |
OMIM:607872 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:312870 |
| Kabuki Syndrome 1 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:147920 |
| Peters Plus Syndrome |
|
Hydrocephalus, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
| Peters-Plus Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:261540 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus |
ORPHA:580 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
| Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Stillbirth, Frontal encephalocele |
OMIM:268300 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum |
OMIM:164210 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
