| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Geographic And Fissured Tongue |
|
Furrowed tongue, Geographic tongue |
OMIM:137400 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Spastic Paraparesis And Deafness |
|
Cataract, Spastic paraparesis, Tremor |
OMIM:312910 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly, Ataxia |
ORPHA:2274 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract, Hepatomegaly |
ORPHA:79281 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum |
OMIM:618732 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor |
OMIM:160120 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Limb ataxia, Cataract, Spastic gait |
OMIM:617133 |
| Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
| Optic Atrophy 2 |
|
Babinski sign, Tremor, Dysdiadochokinesis |
OMIM:311050 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract, Chorea |
OMIM:601372 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
| Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Protruding tongue, Macroglossia |
OMIM:227250 |
| Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
| Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... |
ORPHA:98807 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Cataract, Lower limb spasticity |
ORPHA:401830 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Dysequilibrium Syndrome |
|
Cataract, Ataxia, Cerebral palsy |
ORPHA:1766 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Spinocerebellar Ataxia Type 15/16 |
|
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... |
ORPHA:98769 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
| Cataract 11, Multiple Types |
|
Cataract, Chorea, Hypertonia |
OMIM:610623 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| X-Linked Dystonia-Parkinsonism |
|
Torsion dystonia, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Limb dystonia, Prot... |
ORPHA:53351 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hemiplegia/hemiparesis, Cataract, Spastic paraparesis, Ataxia |
ORPHA:2815 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... |
OMIM:614561 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... |
OMIM:314250 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Splenomegaly, Ataxia, Hepatomegaly, Gait ataxia, Spasticity, Hepatic fibrosis, Tr... |
OMIM:616719 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Hepatomegaly |
OMIM:607906 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:311895 |
| Galactose Epimerase Deficiency |
|
Cataract, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract, Spastic tetraplegia |
OMIM:615412 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1377 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Hepatomegaly, Myoclonus, Splenomegaly |
ORPHA:139406 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor |
OMIM:618425 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Ataxia, Tremor |
OMIM:611105 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Spasticity, Ataxia, Tremor |
OMIM:278780 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Glossoptosis, Cleft palate |
ORPHA:3104 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
| Combined Saposin Deficiency |
|
Fasciculations, Splenomegaly, Hepatomegaly, Babinski sign, Hyperkinetic movements, Myoclonus |
OMIM:611721 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Hepatomegaly, Spasticity, Myoclonus, Tremor |
OMIM:615924 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... |
ORPHA:101110 |
| Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
| Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:46532 |
| Cataract-Ataxia-Deafness Syndrome |
|
Developmental cataract, Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor |
ORPHA:401901 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Intrauterine growth retardation, Macroglossia, Umbilical hernia, Protruding tongue, ... |
OMIM:612938 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor |
OMIM:300660 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... |
OMIM:607317 |
| Down Syndrome |
|
Narrow mouth, Open mouth, Microdontia, Aganglionic megacolon, Thick lower lip vermilion, Anal atr... |
ORPHA:870 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice |
OMIM:206400 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... |
OMIM:177650 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal pyramidal sign, Cataract, Neutropenia, Spasticity, Abnormality of extrapyramidal motor f... |
OMIM:616271 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
| Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... |
OMIM:128230 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma |
OMIM:604219 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Chorea, Tremor |
ORPHA:494526 |
| Angelman Syndrome |
|
Drooling, Widely spaced teeth, Macroglossia, Limb tremor, Protruding tongue, Wide mouth |
OMIM:105830 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616366 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:168100 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... |
OMIM:611302 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Hemipar... |
ORPHA:444463 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract, Spasticity |
OMIM:212540 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Ataxia, Spasticity, Tremor |
OMIM:615889 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Drooling, Wide mouth |
OMIM:614325 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Mevalonic Aciduria |
|
Cataract, Splenomegaly, Ataxia |
ORPHA:29 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor |
OMIM:615528 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Open mouth, Everted lower lip vermilion, Abnormality of the dentition, Protruding to... |
OMIM:212066 |
| Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616187 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... |
ORPHA:216873 |
| Icf Syndrome |
|
Umbilical hernia, Protruding tongue, Malabsorption, Macroglossia |
ORPHA:2268 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Hepatomegaly, Jaundice |
OMIM:614876 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Protruding tongue, Inguinal hernia, Gingival overgrowth |
ORPHA:93399 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Widely spaced teeth, Wide mouth |
ORPHA:98795 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Splenomegaly, Ataxia, Jaundice, Hepatomegaly, Spasticity, Hemolytic anemia, Hypertonia |
OMIM:608885 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Myoclonus, Tremor |
OMIM:159900 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Drooling, Widely spaced teeth, Wide mouth, Protruding tongue, Tremor |
ORPHA:98794 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Angelman Syndrome Due To A Point Mutation |
|
Protruding tongue, Widely spaced teeth, Drooling, Wide mouth |
ORPHA:411511 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Long philtrum, Tented upper lip vermilion, Smooth philtrum, Protruding tongue, Wide ... |
OMIM:618580 |
| Kleefstra Syndrome 1 |
|
Everted lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Natal tooth, Protruding ... |
OMIM:610253 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Protruding tongue, Malabsorption, Macroglossia |
OMIM:242860 |
| Urocanase Deficiency |
|
Blue irides, Ataxia, Tremor |
OMIM:276880 |
| Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly |
OMIM:608971 |
| Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... |
OMIM:617319 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... |
ORPHA:251282 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Hemiparesis, Tremor |
OMIM:141500 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, Protruding tongue |
OMIM:300963 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor |
OMIM:615362 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... |
ORPHA:98762 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:600116 |
| Burning Mouth Syndrome |
|
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... |
ORPHA:353253 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic gait, Upper limb spasticity, Cataract, Upper limb dysmetria, Spastic paraplegia, Head tre... |
OMIM:614409 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia, Myoclonus |
OMIM:610539 |
| Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Long philtrum, Macroglossia, Dental crowding, Protruding tongue |
OMIM:141750 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Everted lower lip vermilion, Smooth philtrum |
ORPHA:324410 |
| Marshall-Smith Syndrome |
|
Open mouth, Protruding tongue, Gingival overgrowth |
ORPHA:561 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Protruding tongue, Gingival overgrowth, Wide mouth |
OMIM:618797 |
| Down Syndrome |
|
Aganglionic megacolon, Anal atresia, Macroglossia, Duodenal stenosis, Protruding tongue |
OMIM:190685 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... |
OMIM:613135 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Dystonia, Hemolytic anemia, Tremor |
OMIM:615010 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... |
ORPHA:314632 |
| Auriculocondylar Syndrome 2 |
|
Narrow mouth, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibular condyle ap... |
OMIM:614669 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Protruding tongue, Inguinal hernia, Gingival overgrowth |
ORPHA:93400 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... |
OMIM:133180 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:618495 |
| Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... |
ORPHA:99657 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Fish-Eye Disease |
|
Lymphadenopathy, Corneal opacity, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor |
OMIM:615768 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... |
OMIM:270500 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... |
OMIM:116200 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Everted lower lip vermilion, Macroglossia, Inguinal hernia, Protruding tongue, Downturned corners... |
ORPHA:96147 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysmetria, Intention tremor, Cataract, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:224050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor |
OMIM:608105 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Vacuolated lymphocytes, Cataract, Abnormality of extrapyramidal motor function, Myo... |
OMIM:204200 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... |
ORPHA:521406 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor |
OMIM:615048 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Tremor |
ORPHA:66633 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Long philtrum, Gingival overgrowth |
OMIM:619179 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... |
OMIM:607671 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, Thick vermilion border |
ORPHA:1446 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic gait, Cataract, Lower limb spasticity, Spastic paraplegia, Paraplegia, Limb dysmetria, Ba... |
OMIM:270800 |
| Raine Syndrome |
|
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Natal tooth, Protruding tongue, Cleft ... |
OMIM:259775 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cataract, Limb tremor |
OMIM:616647 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Dysmetria, Intention tremor, Cataract, Fasciculations, Progressive cerebellar ataxia, Truncal ata... |
ORPHA:284289 |
| Corticobasal Syndrome |
|
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... |
ORPHA:454887 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia |
OMIM:261630 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Ataxia, Tremor |
OMIM:614307 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor |
OMIM:612126 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... |
ORPHA:240103 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Cataract, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor |
OMIM:616586 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Narrow mouth, Intrauterine growth retardation, Smooth philtrum, Protruding tongue, Thick vermilio... |
OMIM:608779 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary ce... |
OMIM:301040 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... |
OMIM:615285 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract, Progressive spasticity |
ORPHA:2528 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor |
OMIM:607458 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Galactose Mutarotase Deficiency |
|
Cataract, Hepatomegaly, Cholestasis |
ORPHA:570422 |
| Hurler-Scheie Syndrome |
|
Abnormal pyramidal sign, Corneal opacity, Splenomegaly, Hepatomegaly, Abnormality of the tonsils |
ORPHA:93476 |
| Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Tremor |
OMIM:619561 |
| Parkinson Disease 14, Autosomal Recessive |
|
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor |
OMIM:612953 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Spasticity, Hepatomegaly |
OMIM:613730 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Tremor |
OMIM:616710 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue, Opisthotonus, Drooling |
OMIM:619580 |
| Sialidosis Type 2 |
|
Corneal opacity, Splenomegaly, Ataxia, Hepatomegaly, Ascites, Tremor |
ORPHA:87876 |
| X-Linked Immunoneurologic Disorder |
|
Cataract, Hemiplegia/hemiparesis, Hypertonia |
ORPHA:2571 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Cataract, Tremor, Neutropenia, Hypertonia |
OMIM:617248 |
| Leber Congenital Amaurosis 1 |
|
Eye poking, Keratoconus, Cataract, Hepatomegaly |
OMIM:204000 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor |
ORPHA:363710 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Ataxia |
ORPHA:796 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Frequent falls, Dysmetria, Dystonia, Spastic gait, Cataract, Spastic paraplegia, Ataxia, Lower li... |
OMIM:609195 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Angelman Syndrome |
|
Drooling, Widely spaced teeth, Wide mouth, Protruding tongue, Tremor |
ORPHA:72 |
| Cataract 15, Multiple Types |
|
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract |
OMIM:615274 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy |
OMIM:618852 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... |
OMIM:603552 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Ataxia, Tremor |
OMIM:616421 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor |
OMIM:600363 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:610245 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor |
ORPHA:98763 |
| Parkinson Disease 17 |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor |
OMIM:614203 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
| Gaucher Disease Type 2 |
|
Spasticity, Dystonia, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... |
ORPHA:420485 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Intrauterine growth retardation, Deep philtrum, Severe periodontitis, Premature loss of teeth, Um... |
ORPHA:99843 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Truncal ataxia, Dysmetria, Tremor |
OMIM:616127 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Spasticity, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia |
OMIM:261640 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly |
OMIM:607685 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor |
OMIM:213200 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane |
ORPHA:1067 |
| Dystonia 12 |
|
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor |
OMIM:128235 |
| Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality, Tremor |
ORPHA:79234 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Behr Syndrome |
|
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor |
OMIM:210000 |
| Neuraminidase Deficiency |
|
Dysmetria, Vacuolated lymphocytes, Cataract, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, ... |
OMIM:256550 |
| Spinocerebellar Ataxia 7 |
|
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... |
OMIM:164500 |
| Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of th... |
ORPHA:290 |
| Joubert Syndrome 1 |
|
Triangular-shaped open mouth, Protruding tongue, Occipital myelomeningocele, Macroglossia |
OMIM:213300 |
| Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ataxia |
ORPHA:98293 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Juvenile cataract, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia... |
OMIM:300055 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Protruding tongue, High, narrow palate, Macroglossia |
OMIM:214100 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... |
OMIM:300894 |
| Spinocerebellar Ataxia 48 |
|
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor |
OMIM:618093 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Cataract, Hepatomegaly, Chorea, Truncal ataxia |
ORPHA:369840 |
| Anterior Segment Dysgenesis 7 |
|
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos |
OMIM:269400 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Immunodeficiency 69 |
|
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia |
OMIM:618963 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... |
OMIM:606324 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Spastic paraparesis, Splenomegaly, Ataxia, Hepatomegaly, Thrombocytopenia, Myoclonus |
OMIM:231000 |
| 4H Leukodystrophy |
|
Dysmetria, Dystonia, Cataract, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, D... |
ORPHA:289494 |
| Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
| Leber Congenital Amaurosis 2 |
|
Eye poking, Keratoconus, Cataract |
OMIM:204100 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:615234 |
| Cataract, Ataxia, Short Stature, And Mental Retardation |
|
Postural tremor, Ataxia, Posterior subcapsular cataract |
OMIM:300619 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis |
OMIM:271500 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopath... |
ORPHA:79477 |
| Autosomal Spastic Paraplegia Type 58 |
|
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Gait ataxia... |
ORPHA:397946 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Cataract 10, Multiple Types |
|
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract |
OMIM:600881 |
| Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
| Free Sialic Acid Storage Disease |
|
Abnormal pyramidal sign, Athetosis, Ataxia, Splenomegaly, Hepatomegaly, Spasticity, Iris hypopigm... |
ORPHA:834 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Dystonia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Spasticity, Thrombocytopenia |
OMIM:610333 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Cataract, Hypertonia |
OMIM:617228 |
| Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor |
OMIM:612016 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor |
ORPHA:65684 |
| Aniridia 2 |
|
Cataract, Aniridia |
OMIM:617141 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:610293 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... |
OMIM:606159 |
| Alpha-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... |
ORPHA:846 |
| Whistling Face Syndrome, Recessive Form |
|
Narrow mouth, High palate, Long philtrum, Microglossia, Inguinal hernia, Whistling appearance |
OMIM:277720 |
| Lipoid Proteinosis |
|
Tongue nodules, High palate, Dystonia, Abnormal oral mucosa morphology, Thick lower lip vermilion... |
ORPHA:530 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Dystonia, Choreoathetosis |
OMIM:614932 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hepatomegaly, Rigidity, Poor fine moto... |
OMIM:613280 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Tremor |
OMIM:619099 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Dystonia, Cataract, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis |
ORPHA:101006 |
| Peters Anomaly |
|
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... |
ORPHA:708 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal pyramidal sign, Upper limb spasticity, Spastic dysarthria, Cataract, Head tremor, Lower ... |
ORPHA:320391 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... |
OMIM:213600 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
| Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:617145 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor |
OMIM:612716 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Dystonia 7, Torsion |
|
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... |
OMIM:602124 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate |
ORPHA:166100 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Senior-Loken Syndrome |
|
Cataract, Congenital hepatic fibrosis, Ataxia |
ORPHA:3156 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Open mouth, Protruding tongue, Impaired mastication, Macroglossia |
ORPHA:258 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor |
OMIM:617836 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor |
OMIM:612438 |
| Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Ataxia, Iris hypopigmentation |
ORPHA:231183 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Abnormal pyramidal sign, Ataxia, Tremor |
OMIM:301840 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Ataxia, Abnormali... |
ORPHA:2585 |
| Coproporphyria, Hereditary |
|
Respiratory paralysis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:121300 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor |
OMIM:619028 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
| Lopes-Maciel-Rodan Syndrome |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus |
OMIM:617435 |
| Autosomal Dominant Keratitis |
|
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... |
ORPHA:2334 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia |
OMIM:619164 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Aicardi-Goutieres Syndrome 7 |
|
Spastic tetraparesis, Dystonia, Splenomegaly, Hepatomegaly, Thrombocytopenia |
OMIM:615846 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor |
ORPHA:139485 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Myoclonus, Tremor |
OMIM:614018 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia, Cataract |
OMIM:257790 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Jaberi-Elahi Syndrome |
|
Dysmetria, Dystonia, Choreoathetosis, Cataract, Gait ataxia, Spasticity, Tremor |
OMIM:617988 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:615631 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... |
ORPHA:79263 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... |
OMIM:617514 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Tetraplegia, Clonus, Spasticity, Cardiomegaly |
ORPHA:3137 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Neuroectodermal Melanolysosomal Disease |
|
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia |
ORPHA:33445 |
| Galactosemia |
|
Action tremor, Dystonia, Cataract, Ataxia, Jaundice, Speech apraxia, Hepatomegaly, Postural tremo... |
ORPHA:352 |
| Amoebic Keratitis |
|
