| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... |
OMIM:600795 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair, Ataxia, Intention tremor |
OMIM:190200 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax... |
OMIM:618824 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Gait atax... |
ORPHA:225154 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis, Thalami... |
OMIM:615483 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Cerebral atrophy, Seizure, Hypertonia, Intrauterine growth retardation |
OMIM:614023 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Midline brainstem cleft, Hemipare... |
OMIM:617542 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... |
ORPHA:232 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... |
ORPHA:204 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurre... |
ORPHA:282166 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... |
ORPHA:33445 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Clonus, Decreased thalamic volume, Hypoplasia of the brainstem, Hypertonia, Spasticity |
OMIM:613668 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, T... |
OMIM:618317 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Incoordination, Aggressive behavior, Gait ataxia, Seizure, Fair hair |
OMIM:618808 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, T2 hypointense tha... |
ORPHA:157846 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Decreased thalamic volume, Dystonia |
OMIM:618646 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... |
OMIM:615362 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Ocul... |
ORPHA:467166 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tet... |
OMIM:615924 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Focal impaired awareness seizure, Astrocytosis |
OMIM:607341 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spas... |
ORPHA:363717 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Focal T2 hyperintense thalamic lesion, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia |
OMIM:141500 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... |
ORPHA:330050 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Neurofibrillary tangles, T... |
OMIM:601104 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Growth delay, Athetosis, Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... |
OMIM:615400 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Abnormal thalamus morphology, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Frontal upsweep of hair, Spasticity,... |
OMIM:300983 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume, Cerebellar hypoplasia |
OMIM:619072 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inabili... |
OMIM:618090 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Diaminopentanuria |
|
Neurodegeneration, Seizure, Spasticity, Ataxia |
OMIM:222350 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio... |
OMIM:607624 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Generali... |
OMIM:610951 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion... |
OMIM:619470 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Olivopontocerebellar hypo... |
ORPHA:370959 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Seizure, Neurodegeneration |
OMIM:613068 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 hyper... |
ORPHA:254881 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Br... |
OMIM:617435 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... |
OMIM:300423 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Agenesis of corpu... |
OMIM:610245 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Cach Syndrome |
|
Cerebellar atrophy, T2 hypointense thalamus, Truncal ataxia, Dysmetria, Limb ataxia, Spastic dipl... |
ORPHA:135 |
| Progressive Non-Fluent Aphasia |
|
Restlessness, Parkinsonism, Neurofibrillary tangles, Temporal cortical atrophy, Astrocytosis, Fro... |
ORPHA:100070 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing |
OMIM:619561 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesi... |
OMIM:616291 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordinat... |
ORPHA:363400 |
| Cln5 Disease |
|
Generalized-onset seizure, Tremor, Dysmetria, Hyperactivity, Abnormal central motor function, Ata... |
ORPHA:228360 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... |
OMIM:617665 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Seizure, Melanin pigment ag... |
OMIM:256710 |
| Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Seizure, Dysto... |
OMIM:612716 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Apraxia, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Dy... |
OMIM:607136 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Spastic tetrapl... |
ORPHA:88619 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... |
OMIM:604213 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... |
ORPHA:382 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... |
ORPHA:79263 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
| Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Seizure, Gait disturbance... |
OMIM:607822 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Spastic tetraplegia, Clumsiness, Gait ataxia... |
ORPHA:1947 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ... |
OMIM:143100 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Weaknes... |
ORPHA:79139 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosu... |
ORPHA:300570 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalize... |
OMIM:619028 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary mov... |
ORPHA:48818 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Focal T2 hyperintense thalamic lesion, Myoclonus |
OMIM:619057 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia... |
OMIM:213200 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Flexion contracture, Focal tonic s... |
OMIM:617106 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardation |
OMIM:620270 |
| Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen... |
OMIM:615643 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n... |
ORPHA:276435 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
| Atypical Rett Syndrome |
|
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Gait di... |
ORPHA:3095 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Self-injurious behavior, Seizure, Hyp... |
ORPHA:79254 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Short stature, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, ... |
OMIM:617836 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature |
ORPHA:1355 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Seizure, Difficulty walking, Astrocytosis |
OMIM:611087 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, ... |
ORPHA:411515 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Neurofibrillary tangles, Chorea, Babins... |
OMIM:610217 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Spinocerebellar tract degen... |
OMIM:617916 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinati... |
ORPHA:79264 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk... |
ORPHA:71517 |
| Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral ... |
ORPHA:391417 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, ... |
OMIM:164500 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... |
OMIM:617810 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... |
OMIM:615157 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chore... |
OMIM:618093 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
| Leigh Syndrome |
|
Chorea, Choreoathetosis, Frontal hirsutism, Agenesis of corpus callosum, Alopecia, Ataxia, Abnorm... |
ORPHA:506 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth d... |
OMIM:619738 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, Brain atrophy, Bruxis... |
OMIM:618718 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Acute Disseminated Encephalomyelitis |
|
Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensity, Abnormal cerebellum morph... |
ORPHA:83597 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... |
ORPHA:329284 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology, Abnormality of the frontal hairline |
ORPHA:557003 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Increased adipose tissue, Hypoglycemic seizures, Growth delay, Dela... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Increased adipose tissue, Hypoglycemic seizures, Growth delay, Dela... |
ORPHA:71526 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb ataxia, Progressive... |
ORPHA:284324 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism |
ORPHA:2786 |
| Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Disinhibition, Abnormality of extrapyramidal motor ... |
OMIM:608907 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag... |
ORPHA:3077 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Myoclonus, Difficulty wal... |
OMIM:159950 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... |
OMIM:615889 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal sign, Dy... |
OMIM:614831 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology, Gait ataxia, Atrop... |
ORPHA:70595 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
| Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Abnormal thal... |
ORPHA:845 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Short stature, Ataxia, Tremor, Premature graying of hair, Seizure, Gait... |
ORPHA:100 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Pigmentary retinopathy, Status epilept... |
OMIM:614307 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... |
OMIM:612016 |
| Griscelli Syndrome Type 1 |
|
Ataxia, Partial albinism, White hair, Premature graying of hair, Seizure, Hypertonia, Iris hypopi... |
ORPHA:79476 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Seizure, Hypertonia, Agitation, Disinhibition, Myo... |
ORPHA:1020 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Infantile spasms, Tremor, Growth delay, Spasticity |
OMIM:278780 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, Involuntary movements, R... |
ORPHA:442835 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Agitation,... |
OMIM:607485 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysm... |
OMIM:607694 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br... |
OMIM:619306 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis |
ORPHA:101077 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoc... |
ORPHA:139485 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... |
OMIM:137440 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Nocturnal seizures,... |
OMIM:619725 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... |
OMIM:615491 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... |
ORPHA:363654 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,... |
ORPHA:438134 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, ... |
OMIM:612438 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Paralysis, Cerebral cortical neurodegen... |
OMIM:203700 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dy... |
OMIM:210000 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... |
OMIM:127550 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Blue irides, Seizure, Attention deficit hyperactivity disorde... |
OMIM:261600 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Dystonia, Tremor, ... |
OMIM:312080 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, White hair, Abnormal brainstem morphology, Ocular albinism, Hypertonia, Aplasia/Hypoplasi... |
ORPHA:2720 |
| Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Abnormal dentate nuc... |
ORPHA:59315 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Short stature, Polyphagia, Hypopigmentation of the skin, Iris hypopigme... |
ORPHA:177910 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Axonal dege... |
OMIM:302800 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable ... |
ORPHA:199351 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Bruxism, Cerebral atrophy, Choreoathetosis, Growth delay, Seizure, Dysp... |
OMIM:619422 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Synophrys, Spastic diplegia, Sei... |
ORPHA:480907 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Dysmetria, Seizure, Dysdiadochokines... |
ORPHA:289494 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait |
OMIM:616795 |
| Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... |
OMIM:183090 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... |
ORPHA:1942 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia |
OMIM:612126 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Short stature, Silver-gray hair, Spastic paraplegia, Seizure, Multiple lentigines,... |
ORPHA:101003 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Abnormal eating behavior, Trem... |
ORPHA:98794 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormal thalamic MRI s... |
ORPHA:254930 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrophy, Seizure, Gait dis... |
ORPHA:542310 |
| Obesity And Hypopigmentation |
|
Red hair, Polyphagia |
OMIM:620195 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis,... |
ORPHA:309854 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Tremor, Unsteady gait, Slurred speech, Babinski sign, Cerebra... |
ORPHA:137898 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
| Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Dysphagia, Limb hypertonia |
OMIM:617162 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Low anterior hairline, Highly arched eyebrow |
ORPHA:404440 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Abnormal eating behavior, Tongue thrusting, S... |
ORPHA:411511 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... |
ORPHA:848 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Seizure, Dysph... |
ORPHA:70472 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Spasticity, Myoclonus |
ORPHA:309155 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Severe temper tantrums... |
OMIM:617710 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Hypopigmentation of hair, Bilateral tonic-clonic seizure with generalized onset... |
ORPHA:98795 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Spasticity, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Mild postnatal growth retardation, Unsteady gait, Flexion contracture, Astrocytosis, Pr... |
ORPHA:90324 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
| Adrenoleukodystrophy |
|
Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, ... |
OMIM:300100 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy, Dysphagia |
OMIM:618637 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait dist... |
ORPHA:457240 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Hypoplasia of the pons, Low anterior hairlin... |
OMIM:613153 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Glios... |
ORPHA:683 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles,... |
OMIM:609454 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Increased connective tissue, Focal-onset seizure, Inability to walk, Flexion contracture, General... |
ORPHA:258 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat... |
ORPHA:529665 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hyperto... |
OMIM:261640 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Seizure, ... |
ORPHA:765 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology, Ataxia |
ORPHA:435638 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Spasti... |
ORPHA:391428 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Tremor, Seizure... |
ORPHA:370079 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Neuromuscular dysphagia, Slurred speech, T... |
ORPHA:206443 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Flexion contracture, Dysme... |
OMIM:616505 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
| Angelman Syndrome |
|
Tremor, Hypopigmentation of the skin, Iris hypopigmentation, Hyperactivity, Ataxia, Tongue thrust... |
ORPHA:72 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Seizure, Bradykinesia, Dystoni... |
ORPHA:70594 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Abnormal thalamus morphology, Low posterior hairline |
ORPHA:2959 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait dist... |
ORPHA:544254 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dysphagia, Limb hyp... |
OMIM:233910 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap... |
ORPHA:363722 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Short stature, Congenital diaphragmatic hernia, Aggressive behavior, Concave na... |
OMIM:300978 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Ataxia |
OMIM:619046 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, G... |
OMIM:616586 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait,... |
OMIM:168601 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia, Cerebral cortical atrophy, Ir... |
ORPHA:97229 |
| Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance |
OMIM:118300 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Blue irides, Red hair, Mild short stature, Fair hair, Intrauterine growth retardation |
OMIM:614613 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, L... |
OMIM:208920 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Gliosis, Parkinsonism, Aggressive behavior |
OMIM:606688 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Gait disturbance, Ataxia, Rigidity |
OMIM:603472 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Tremor, Attention defic... |
OMIM:618342 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne... |
OMIM:214150 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... |
OMIM:614298 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Cerebral c... |
ORPHA:1192 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Bilateral tonic-clonic seizure, Sparse e... |
OMIM:617988 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia,... |
OMIM:168600 |
| Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Growth delay, Seizure... |
OMIM:615673 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Gliosis, Spasticity |
OMIM:300957 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Short stature, Tremor, Flexion contracture, Seizure, Umbilical hernia |
ORPHA:87876 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Choreoathetosis, Seizure, Joint contract... |
OMIM:617664 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Synophrys, Growth delay, Self-injurious behavior, Seizure, Long eyelashes, Intrauterine g... |
ORPHA:238750 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Short stature, Generalized hypopigmenta... |
ORPHA:3322 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, ... |
OMIM:614381 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Gait ataxia, Seizure |
ORPHA:3124 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Niemann-Pick Disease, Type C1 |
|
Dystonia, Ataxia, Neurofibrillary tangles, Gait ataxia, Seizure, Dysphagia, Cataplexy, Spasticity... |
OMIM:257220 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Multiple cafe-au-lait spots |
OMIM:609054 |
| Meningioma |
|
Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Neoplasm of ... |
ORPHA:2495 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Short stature, Tremor, Flexion contracture, Numerous pigmented freckles, Brain atrophy, F... |
OMIM:278760 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:615960 |
| Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Seizure, Hypertonia, Iris ... |
ORPHA:79477 |
| Acute Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Hypertonia, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Limb tremor, Clumsiness, Seizure, Progressi... |
OMIM:105830 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth re... |
OMIM:618541 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia,... |
OMIM:618321 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Short stature, Abnormal eyelash morphology, Silver-gray hair... |
ORPHA:381 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon |
ORPHA:2570 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Nocturnal seizures, Ster... |
OMIM:619229 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Thick hair, Tremor, Inability to walk, Limb ataxia, Dysmetria, Growth dela... |
OMIM:617675 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Seizure, Short stature, Neurodegeneration |
OMIM:620210 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Highly arched eyebrow, Synophrys, Hypopla... |
OMIM:617751 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:615181 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Seizure, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressi... |
OMIM:245200 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... |
OMIM:618056 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Myoclonic seizu... |
OMIM:620327 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Choreoathetosis, Hyperactivity, Absent thumbnail, Seizure, Myoc... |
ORPHA:1934 |
| Ddost-Cdg |
|
Lipodystrophy, Short stature, Tremor, Oromotor apraxia, Seizure |
ORPHA:300536 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Seizure, Giant melan... |
OMIM:214500 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ... |
OMIM:612199 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor |
OMIM:117300 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... |
ORPHA:99027 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Seizure, Neurodegeneration, Status epilepticus, Gliosis, Spasticity, Neuronal... |
OMIM:616239 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... |
ORPHA:999 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Abnormality of hair pigmentation, Knee flexion contracture, Seizure, I... |
OMIM:618156 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Hydranencephaly |
|
Thalamic edema, Spastic diplegia, Opisthotonus, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus, Anorexia |
ORPHA:99825 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthoton... |
OMIM:616271 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... |
ORPHA:79244 |
| Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Progressive spastic ... |
ORPHA:206448 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Short stature, Tremor, Inabi... |
OMIM:615356 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Tremor, Fascicula... |
ORPHA:99965 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Absent pubertal growth spurt, Short stature, Congenital diaphragmatic... |
OMIM:615919 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Holoprosencephaly 7 |
|
Partial agenesis of the corpus callosum, Synophrys, Panhypopituitarism, Hypoplasia of the brainst... |
OMIM:610828 |
| Wolfram Syndrome 1 |
|
Ataxia, Tremor, Cerebral atrophy, Growth delay, Seizure, Pigmentary retinopathy, Dysphagia |
OMIM:222300 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis, Br... |
OMIM:617186 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Focal-onset seizure, Spastic tetraplegia, Seizure, Neurodegeneration, Inappropr... |
OMIM:618476 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Gait disturbance, Multiple cafe... |
ORPHA:3214 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Limb dystonia, Multifocal seizures, Ataxia, Aggressive behavior, Tremor, Spas... |
ORPHA:572798 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Atrophy of the spinal cord, Parapares... |
ORPHA:2822 |
| Castleman Disease |
|
Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At... |
ORPHA:2131 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Ataxia, Short stature, Ocular albinism, Abnormal pyram... |
ORPHA:2719 |
| Bickerstaff Brainstem Encephalitis |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Tetrapleg... |
ORPHA:79138 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Oculomotor apraxia, Molar to... |
ORPHA:220497 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnorma... |
ORPHA:314621 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms... |
ORPHA:25 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo... |
OMIM:607426 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Short stature, Inguinal hernia, Abnormal hair pattern, Aggressiv... |
ORPHA:85293 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Thick hair, Tremor, Dysmetria, Growth delay, Progressive cerebellar ataxia, Dysdia... |
ORPHA:502423 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitation, Neurodegeneration, Spa... |
ORPHA:803 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclo... |
ORPHA:478029 |
| Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Progressive s... |
OMIM:207800 |
| Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Seizure, Neurodegeneration, Atte... |
ORPHA:447788 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Oral-pharyngeal dysphagia, Poor coordination, Spastic tetraplegia, Cerebral atrop... |
OMIM:616878 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Neurofibrillary tangles, Seizure, Dysphagia, Cataplexy, Spasticity, Abnormal re... |
OMIM:607625 |
| Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Short stature, Poor motor coordination, Simple febrile seizure, S... |
ORPHA:2203 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Pontocereb... |
OMIM:606002 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Tremor, Abnormal cerebellum morphology, Babi... |
ORPHA:447753 |
| Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp... |
ORPHA:646 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Syno... |
OMIM:300966 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Abnormal conus terminalis morphology |
ORPHA:464321 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M... |
ORPHA:68 |
| Ataxia-Telangiectasia |
|
Dystonia, Ataxia, Short stature, Abnormal hair morphology, Inability to walk, Tremor, Slurred spe... |
OMIM:208900 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal pyramidal sign, Hypopigme... |
ORPHA:163746 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hypertonia, Ataxia, Decreased thalamic volume, Spastic paraplegia |
ORPHA:168577 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Synophrys, Abnormality of skin pigmentation, Hypertonia, Tics, Compulsive... |
OMIM:619475 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Bulimia, Self-injurious be... |
ORPHA:98793 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Flexion contracture of finger, Tremor, I... |
ORPHA:466768 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Oculomotor apraxia, Molar to... |
ORPHA:220493 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Bulimia, Self-injurious be... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Bulimia, Self-injurious be... |
ORPHA:177901 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Synophrys, Low posterior hairline, Interhypothalamic adhesion, Agenesis of ... |
OMIM:618929 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Polyphagia, Hypoglycemic seizures |
OMIM:609734 |
| Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Inguinal hernia, Severe short stature, Short stature, Flexio... |
OMIM:309900 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Bulimia, Self-injurious be... |
ORPHA:98754 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp... |
OMIM:615574 |
| Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Apraxia |
OMIM:606889 |
| Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Parkin... |
ORPHA:167 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Iris hypopigmentation, Poo... |
OMIM:176270 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia, Abnormality of the nail |
ORPHA:28378 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abnormality of hair t... |
ORPHA:96169 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hea... |
ORPHA:177907 |
| Dpagt1-Cdg |
|
Epileptic spasm, Ataxia, Lipodystrophy, Akinesia, Aggressive behavior, Tremor, Inability to walk,... |
ORPHA:86309 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... |
ORPHA:2828 |
| Menkes Disease |
|
Hypopigmentation of hair, Inguinal hernia, Woolly hair, Chorea, Atypical scarring of skin, Seizur... |
ORPHA:565 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Impulsivity, Flexion contr... |
ORPHA:398069 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Ataxia, Anorexia, Infantile spasms, Generalized clonic seizure, Tremor, Cerebellar glio... |
ORPHA:3008 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration |
OMIM:146500 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Short s... |
OMIM:614947 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Corneal scarring, Gait disturbance, Hernia, Camptodactyly |
ORPHA:90354 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Dry hair, Reduced subcutaneous adipose tissue, Short stature... |
OMIM:216400 |
| Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Severe short stature, Short stature, Postnatal growth retardation, Flexion contrac... |
OMIM:253220 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
| Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Short stature, Dystonia, Multiple joint contractures, Lipoatrop... |
ORPHA:51 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Seizure, Skin-picking, Abnormal temper ta... |
ORPHA:398079 |
| Lead Poisoning |
|
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr... |
ORPHA:512 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| Syndromic Diarrhea |
|
Inguinal hernia, Brittle hair, Short stature, Hypopigmentation of hair, Generalized hypopigmentat... |
ORPHA:84064 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Anorexia, Ocular a... |
ORPHA:79430 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Seizure, Attention deficit... |
ORPHA:739 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Short stature, Glioma, Retinal pigment epithelial mottling, Progressive vitiligo, ... |
OMIM:251260 |
| Hurler Syndrome |
|
Inguinal hernia, Short stature, Flexion contracture, Neurodegeneration, Hernia, Umbilical hernia,... |
OMIM:607014 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
| Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Postnatal growth retardation, Ocular albinism, Seizure, Dysph... |
OMIM:242840 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Cerebral atrophy, Growth delay, Seizure, Hypertonia, Dysphagia |
OMIM:617248 |
| Friedreich Ataxia 2 |
|
Abnormality of the dorsal column of the spinal cord, Abnormal medulla oblongata morphology, Ataxi... |
OMIM:601992 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Rhizomelia, Short stature, Abnormal dental enamel morphology, Congenita... |
ORPHA:818 |
| Primrose Syndrome |
|
Restlessness, Sparse scalp hair, Hip contracture, Ataxia, Short stature, Absent facial hair, Aggr... |
OMIM:259050 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair |
ORPHA:1974 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Short stature, Oral-pharyngeal dysphagia, Retinal pigment epithelial mo... |
OMIM:219800 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Abnormal eyelas... |
OMIM:619488 |
| Williams Syndrome |
|
Ataxia, Involuntary movements, Abnormal fingernail morphology, Tremor, Hypoplastic toenails, Spin... |
ORPHA:904 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Clonus, Hypertonia |
ORPHA:649 |
| Monosomy 18Q |
|
Low anterior hairline, Abnormal myelination |
ORPHA:1600 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Pigmentary retinopathy, Delayed myelination, Abnormal myelination |
ORPHA:404454 |
| Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |
