Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Tremor |
OMIM:615945 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Progres... |
ORPHA:171622 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... |
ORPHA:101010 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Ankle clonus, Diffi... |
OMIM:611252 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... |
OMIM:619742 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy, Spasticity |
OMIM:618185 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... |
OMIM:616053 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Difficulty walking, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia |
ORPHA:363432 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Cerebellar hypoplasia, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun... |
OMIM:615768 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... |
ORPHA:363710 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Spastic tetraplegia, Hypertonia, Lissencephaly, Pachygyria, Polymicrogyria |
OMIM:618730 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Polymicrogyria |
OMIM:618973 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Clumsiness, Spastic dysarthria, Cerebellar hypoplasi... |
ORPHA:314978 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... |
ORPHA:401820 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... |
OMIM:614860 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Dement... |
ORPHA:79262 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Inability to walk... |
OMIM:618276 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Paralysis |
OMIM:616286 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Congestive heart failure, Sp... |
ORPHA:79083 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria |
OMIM:617917 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Cerebral... |
OMIM:613925 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent... |
OMIM:605361 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Foam cells with lamell... |
OMIM:607616 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... |
OMIM:615362 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Spastic tetraparesis |
OMIM:618741 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Truncal ataxia |
OMIM:611726 |
Nescav Syndrome |
|
Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Spasticity... |
OMIM:614255 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ... |
OMIM:616127 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... |
ORPHA:2572 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Dementia, D... |
OMIM:615889 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Congestive heart failure, Ab... |
ORPHA:2348 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance |
ORPHA:1178 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonu... |
OMIM:125370 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Clumsiness |
OMIM:610003 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio... |
OMIM:162350 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... |
OMIM:607565 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis... |
ORPHA:330015 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Cerebellar vermis atrophy |
OMIM:619389 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Pachygyria, Spastic te... |
OMIM:611603 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis |
OMIM:143100 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine... |
OMIM:248900 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons |
OMIM:619303 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... |
OMIM:146110 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy |
OMIM:618412 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebellar verm... |
OMIM:613811 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... |
OMIM:300423 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal cent... |
ORPHA:277 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria |
OMIM:616654 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... |
ORPHA:453521 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ... |
OMIM:617145 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypergonadotrop... |
OMIM:203800 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of extrapy... |
OMIM:236792 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Diffuse cerebral... |
OMIM:607136 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... |
ORPHA:521406 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... |
ORPHA:98759 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia |
OMIM:617207 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertri... |
ORPHA:280365 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Los... |
OMIM:618088 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia |
OMIM:618879 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te... |
OMIM:619686 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... |
OMIM:618273 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Oculomotor apraxia, Cerebellar vermis atrophy, Dysmetria, Cerebellar h... |
OMIM:618087 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... |
OMIM:618982 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia |
OMIM:212840 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Ataxia, Difficulty walking |
OMIM:619425 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet... |
ORPHA:98756 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... |
OMIM:616981 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Eosinop... |
OMIM:243700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri... |
OMIM:615181 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Impaired ... |
OMIM:614409 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Loss of ambulation |
OMIM:617916 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia, Coarctation of aorta, Hypertension... |
OMIM:616069 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... |
ORPHA:98 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls, Ce... |
OMIM:619054 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar... |
ORPHA:1163 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Perisylvian polymicrogyria, Bab... |
OMIM:606854 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... |
ORPHA:79506 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... |
OMIM:607596 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal ... |
OMIM:607250 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Subcortical... |
OMIM:615771 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Cerebellar vermis hypoplasia, Ataxia, Low anterior hairline, Long eyelashes, Cereb... |
OMIM:616819 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros... |
OMIM:604091 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Synophrys, Gait disturbance, Hy... |
ORPHA:85317 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Eczema, Decreased proportion of CD8-positive T cells, Increased circulati... |
OMIM:617241 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Cryptorchidism, Arterial stenosis, Cerebral artery atherosc... |
ORPHA:1192 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent respiratory infections, Osteomyelitis, Recurrent skin infecti... |
OMIM:618282 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia |
ORPHA:209967 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Depressed nasal bridge, Minimal change glomerulonephritis,... |
ORPHA:1830 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Spastic tetraplegia, Dystonia, Spa... |
ORPHA:599373 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... |
OMIM:617638 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ... |
ORPHA:33445 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cere... |
ORPHA:527497 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... |
ORPHA:449400 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystoni... |
OMIM:611390 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morphology, Congest... |
ORPHA:902 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Azoospermia, Hypergonadotropic hypogonadism, Elevated circulating pristanic acid concen... |
OMIM:613724 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis |
OMIM:603813 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Simplified gyral pattern, Hypertonia, Cerebellar hemisphere hypoplasia, Glios... |
OMIM:615095 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Babinski sign, Impaired vibration sensation in the lower limbs, Unste... |
OMIM:159550 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Sparse hair, Attention deficit hyperactivity disorder |
OMIM:301029 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Progressive neurologic deterioration, Dysplastic corpus callosum, Babinski si... |
OMIM:252650 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hypogonadotropic hypogonadism |
OMIM:615266 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dement... |
ORPHA:329284 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... |
OMIM:612656 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Cerebellar hypoplasia, Cerebellar... |
OMIM:613155 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction velocity, Abnormal brainste... |
ORPHA:98755 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... |
OMIM:610743 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki... |
ORPHA:330050 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... |
OMIM:208920 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Waddling gait, Lower limb spasticity, Degeneration of the lat... |
OMIM:607259 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Memory impairment, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... |
OMIM:609270 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, ... |
OMIM:614877 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia |
ORPHA:139480 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Elevated urinary N-acetylaspartic acid level |
OMIM:618384 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... |
OMIM:144300 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur... |
ORPHA:264675 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Gout, Increased LDL cholestero... |
OMIM:610947 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho... |
ORPHA:75234 |
Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Patent ductus arteriosus, Hypogonadism, Hyposmia, Hepatic steatosis |
OMIM:615996 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... |
OMIM:612702 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, C... |
OMIM:614487 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Lower limb spasticity, Ataxia, Inability to... |
OMIM:617854 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a... |
OMIM:615157 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious ather... |
OMIM:145750 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation |
OMIM:619405 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Hypergo... |
OMIM:212065 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Wide nose, Skin rash, Eosinophilia, Increased circulating IgE... |
OMIM:147060 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... |
OMIM:617988 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... |
ORPHA:231160 |
Huntington Disease |
|
Bradyphrenia, Abnormality of the sense of smell, Abnormal circulating cholesterol concentration, ... |
ORPHA:399 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane... |
OMIM:245900 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi... |
OMIM:302800 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis,... |
OMIM:610628 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia, Hirsutism |
OMIM:619071 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf... |
OMIM:300953 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormality of the sense of smell, Abnormal ... |
OMIM:228300 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Filippi Syndrome |
|
Cerebellar atrophy, Dystonia, Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, An... |
OMIM:244400 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276241 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... |
ORPHA:289494 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... |
OMIM:614858 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia |
OMIM:614306 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita... |
OMIM:602450 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse... |
OMIM:616212 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia |
OMIM:269600 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Dystonia, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar atax... |
ORPHA:513436 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebellar hypopla... |
ORPHA:313772 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor |
ORPHA:363717 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:280679 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, H... |
OMIM:617435 |
Null Syndrome |
|
Ataxia, Inability to walk, Abnormal cerebellum morphology, Progressive spastic quadriplegia, Diff... |
ORPHA:280234 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Depressed nasal bridge, Abnormal immunoglobulin level, B... |
OMIM:242900 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor |
OMIM:233400 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:183090 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Ataxia, Gait disturbance, Fine hair |
ORPHA:1174 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Synophrys, Unsteady gait, Hirsutism |
OMIM:300861 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges... |
OMIM:602390 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria |
OMIM:618098 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis |
OMIM:244200 |
Familial Paroxysmal Ataxia |
|
Hemiplegia, Torticollis, Ataxia, Cerebellar vermis atrophy |
ORPHA:97 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2585 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, In... |
ORPHA:2902 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Substantia ... |
ORPHA:276244 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Facial palsy, Optic atrophy, Distal sensory impairment, Bradykinesia,... |
ORPHA:254886 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Meckel Syndrome 13 |
|
Oculomotor apraxia, Occipital encephalocele, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... |
OMIM:615491 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Increased circulating IgE level, Hyp... |
ORPHA:3409 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Depressed nasal bridge, Splenomegaly, Decreased proportion of CD8-positive, alpha-b... |
OMIM:619824 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu... |
OMIM:614880 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Nail dystrophy, Cerebellar hypoplasia, Sparse hair |
OMIM:616353 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
Gapo Syndrome |
|
Anteverted nares, Dysmenorrhea, Abnormal cerebral vascular morphology, Depressed nasal bridge, Ch... |
ORPHA:2067 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ r... |
OMIM:606367 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... |
OMIM:278000 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior... |
OMIM:617013 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Fg Syndrome 3 |
|
Chiari type I malformation, Frontal upsweep of hair, Sparse hair, Fine hair |
OMIM:300406 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head t... |
OMIM:312080 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Hypo... |
OMIM:147950 |
Urocanase Deficiency |
|
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... |
OMIM:607694 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... |
ORPHA:98761 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:613612 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertr... |
ORPHA:412 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte... |
OMIM:612674 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... |
OMIM:616505 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Babinski sign, Sensory ataxia, Gait ataxia |
ORPHA:445062 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Premature coronary artery at... |
OMIM:618666 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Tularemia |
|
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Confusion, Erythema nodosum, Mediastinal... |
ORPHA:3392 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis, Cerebellar dysp... |
ORPHA:457240 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hypoplasia of the ute... |
OMIM:614837 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616267 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased n... |
OMIM:612444 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Anteverted nares, Wide nasal bridge, Micropenis, Hydrocele testis, Cerebellar hypop... |
OMIM:618810 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hypoplasia of the ute... |
OMIM:614841 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left co... |
ORPHA:2326 |
Young-Onset Parkinson Disease |
|
Short attention span, Frontal lobe dementia, Male sexual dysfunction, Dementia, Cognitive impairm... |
ORPHA:2828 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrogyria, Clumsiness, Choreoathetosis, Abnormal... |
OMIM:615673 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Azoospermia, Hypogonadism, Hyposmia, Micropenis, Dec... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size |
OMIM:614838 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... |
ORPHA:229 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I... |
ORPHA:37042 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:109150 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent... |
ORPHA:352582 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... |
OMIM:102700 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... |
OMIM:619556 |
Alg12-Cdg |
|
Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hyponatremia, Hypospadias, Partial absence of s... |
ORPHA:79324 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... |
ORPHA:276198 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... |
ORPHA:420492 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at... |
OMIM:614575 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Vascular granular osmiophilic material deposition, Arteriosclerosis, Stroke-like episode, Dementi... |
ORPHA:199354 |
Kleine-Levin Syndrome |
|
Confusion, Transient global amnesia, Cognitive impairment, Decreased libido, Parosmia |
ORPHA:33543 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis |
OMIM:300857 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Ataxia |
ORPHA:3363 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... |
OMIM:620282 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic steatosis, Vacuolated ... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Acute... |
OMIM:151660 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries, Hypertension, Coronary artery atherosclerosi... |
ORPHA:79084 |
Revesz Syndrome |
|
Ataxia, Progressive neurologic deterioration, Nail pits, Fine hair, Hypertonia, Cerebellar hypopl... |
OMIM:268130 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia |
OMIM:619422 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Hypoplasia of the ovary, Micropenis |
OMIM:618841 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Abnormal pyramidal sign, Lissencephaly, Spasticity, Polymicrogyria |
OMIM:614833 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n... |
ORPHA:276435 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:616030 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Progressive neurologic deterioration, Cerebellar hypoplasia, Sparse hair, Loss of ambulation, Spa... |
OMIM:618253 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:193003 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Decreas... |
ORPHA:478 |
Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia |
OMIM:206700 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I... |
OMIM:256500 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Abnormalit... |
OMIM:616113 |
Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Brittle hair, Poor coordination, Abnormal pyramidal sign, C... |
OMIM:618891 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer... |
OMIM:207950 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Sparse hair, Cerebral atrophy |
OMIM:268020 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonary embolism, Periana... |
ORPHA:444490 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Hypertension... |
OMIM:608600 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... |
ORPHA:2314 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... |
ORPHA:397596 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:618463 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:614381 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-m... |
OMIM:257200 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells |
OMIM:604809 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism |
OMIM:612370 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis |
OMIM:610842 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ... |
OMIM:617751 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Flynn-Aird Syndrome |
|
Dementia, Atherosclerosis |
ORPHA:2047 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Ti... |
ORPHA:98768 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hypogonadism |
OMIM:615267 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... |
ORPHA:220497 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:300845 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... |
OMIM:613807 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries, Hypertension, Hepatic fibrosis, Infertility, Oligomenor... |
ORPHA:280356 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Primary Ciliary Dyskinesia |
|
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... |
ORPHA:244 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Convex nasal ridge, Abnormal circulating lipid concentration, Hyperlipoproteinemia, Atherosclerosis |
ORPHA:1979 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Simplified gyral pattern, Myoclonus |
OMIM:619609 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Hypogonadism |
OMIM:615270 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Splenomegaly... |
OMIM:607625 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Angina pectoris, Premature coronary artery atheroscleros... |
ORPHA:425 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, Cerebral palsy, Cerebellar vermis hypoplasia, Appendicular spasticity |
OMIM:620001 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatic steatosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Inc... |
ORPHA:209902 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Babinski sign, Unsteady gait, Limb ataxia, Clumsiness, G... |
OMIM:619259 |
Holoprosencephaly |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Absent nares, Aplasia/Hypo... |
ORPHA:2162 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... |
OMIM:606002 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubatio... |
ORPHA:225147 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gai... |
ORPHA:216866 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Sensory ataxia, Gait ataxia, Cognitive impai... |
OMIM:616192 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges... |
OMIM:235200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Squalene Synthase Deficiency |
|
Hypospadias, Depressed nasal bridge, Increased circulating farnesol concentration, Bilateral cryp... |
OMIM:618156 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... |
OMIM:605258 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... |
OMIM:304790 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Head titubation, Babinski sign, Craniofacial dystonia, Spastic diplegia, Ankle cl... |
OMIM:619691 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cry... |
ORPHA:251066 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Distal sensory impairment, Paralysis |
OMIM:613710 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Enlarged cerebellum, Simplified gyral pattern, Ataxia |
OMIM:620047 |
Gm1-Gangliosidosis, Type Iii |
|
Foam cells |
OMIM:230650 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Bardet-Biedl Syndrome 17 |
|
Anosmia, Hypogonadism, Cognitive impairment, Hyposmia, Micropenis |
OMIM:615994 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Tetralogy of Fallot |
ORPHA:2316 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis |
ORPHA:230839 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Patchy alopecia, Cerebellar hypoplasia, Sparse hair, Cerebral cortical atrophy |
OMIM:617763 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hyp... |
OMIM:617710 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... |
ORPHA:220493 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Atherosclerosis |
ORPHA:2724 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... |
ORPHA:634 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykin... |
OMIM:610217 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Precocious puberty in females, O... |
ORPHA:528 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol... |
OMIM:618056 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Cholestasis, Steatorrhea,... |
ORPHA:95427 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Mic... |
OMIM:308700 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Dystonia, Mental deterioration, Abnormal posturing |
OMIM:304700 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... |
ORPHA:90308 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Impaired T cell functi... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... |
OMIM:601859 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... |
ORPHA:1295 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Difficulty walking, Distal sensory impairment, Paralysis |
OMIM:605285 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Confusion, Autoimmune hypoparathyroidism, Dyspnea,... |
ORPHA:36913 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Gai... |
OMIM:300957 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Anosmia, Elevated circulating phytanic acid concentration, Total anosmia |
OMIM:614879 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,... |
ORPHA:391417 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fa... |
OMIM:211530 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
Alkaptonuria |
|
Myocardial infarction, Coronary artery calcification, Abnormality of the nose, Osteoarthritis, Hy... |
ORPHA:56 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Cerebellar hypoplasia, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Abnorma... |
ORPHA:70578 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy, Agenesis of corpus callosum |
OMIM:312170 |
4Q21 Microdeletion Syndrome |
|
Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:447753 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Peeling Skin Syndrome 1 |
|
Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... |
OMIM:300991 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu... |
ORPHA:37748 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hypertension, Stroke, Oligomenorrhea, Hepatic steatosis |
OMIM:613877 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Aspiration pneumonia |
OMIM:609528 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Increased serum testosterone level, Dysg... |
ORPHA:8 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Abnormal lung lobation, Chiari type I malformation, Hypoalbuminemia... |
OMIM:270400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections... |
OMIM:614069 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... |
ORPHA:36238 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Refsum Disease |
|
Heart block, Splenomegaly, Anosmia, Respiratory insufficiency, Cardiomyopathy |
ORPHA:773 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment |
OMIM:614018 |
Superficial Siderosis |
|
Cerebellar atrophy, Subarachnoid hemorrhage, Partial anosmia, Internal hemorrhage, Anosmia, Abnor... |
ORPHA:247245 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... |
ORPHA:363654 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arterios... |
OMIM:617053 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Decrea... |
OMIM:615500 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:613808 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Spa... |
ORPHA:2985 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Cognitive impairment, ... |
OMIM:616541 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Hyperlipidemia, Hypertriglyceridemia, Anosmia |
OMIM:617885 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... |
OMIM:178500 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Short attention span, Exaggerated startle response, Incoordination, Dystonia,... |
ORPHA:845 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Premature arteriosclerosis, Convex n... |
OMIM:277700 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Dementia, Sea-blue histiocyto... |
OMIM:257220 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Prima... |
OMIM:604367 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Decreased circulating tota... |
OMIM:619510 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Progressive neurologic deterioration, Splenomegaly, Abnorma... |
ORPHA:646 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Dysplastic corpus callosum... |
OMIM:619737 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... |
ORPHA:97244 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Long nose, Decreased proport... |
ORPHA:508533 |
Hydrolethalus |
|
Abnormality of the sense of smell, Cryptorchidism, Abnormal fallopian tube morphology |
ORPHA:2189 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Narrow nasal ridge, Raynaud pheno... |
ORPHA:740 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevated circulating sitos... |
OMIM:210250 |
Refsum Disease, Classic |
|
Congestive heart failure, Elevated circulating phytanic acid concentration, Anosmia, Cardiomyopat... |
OMIM:266500 |
Cockayne Syndrome |
|
Cerebellar atrophy, Hepatomegaly, Cryptorchidism, Splenomegaly, Retinal hemorrhage, Hypertension,... |
ORPHA:191 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Male infertility, Decreased p... |
ORPHA:125 |
Acute Lung Injury |
|
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Anosmia, Hypogonadotropic hypogonadism |
OMIM:614842 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... |
OMIM:616481 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Frequent falls |
OMIM:159950 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio... |
ORPHA:31150 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Confusion, Abnormal midbrain morphol... |
ORPHA:68 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ve... |
ORPHA:97287 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Micropenis, Testicular atrophy |
OMIM:308750 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Joubert Syndrome 37 |
|
Sparse hair, Oculomotor apraxia, Cerebellar vermis hypoplasia |
OMIM:619185 |
Gaisböck Syndrome |
|
Myocardial infarction, Increased circulating renin level, Cholecystitis, Peripheral arterial sten... |
ORPHA:90041 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulat... |
ORPHA:449563 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Synophrys, Spastic di... |
OMIM:300966 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Potocki-Lupski Syndrome |
|
Prominent nasal tip, Hypocholesterolemia |
OMIM:610883 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Perisylvian p... |
ORPHA:98889 |
Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... |
ORPHA:48818 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:95619 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Synophrys, Low anterior hairline, Fine hair, Cerebellar hypoplasia, Spastic par... |
ORPHA:391408 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Cerebellar hypoplasia, Cerebellar dysplasia |
ORPHA:500159 |
Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Diffuse ... |
OMIM:170100 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, ... |
ORPHA:785 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatin... |
ORPHA:565612 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Oculomotor apraxia,... |
OMIM:617822 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Convex nasal ridge, Dyspnea, Right bundle branch block, Hypertension... |
OMIM:614008 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairment, Parkins... |
ORPHA:240085 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Farber Disease |
|
Respiratory distress, CNS foam cells, Intrahepatic cholestasis with episodic jaundice, Nodular pa... |
ORPHA:333 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Dubowitz Syndrome |
|
Short attention span, Hypospadias, Eczema, Aplastic anemia, Broad nasal tip, Prominent nasal brid... |
OMIM:223370 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti... |
OMIM:615934 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Tremor, Pontocerebellar atrophy, Optic atrophy, Ataxia |
OMIM:608799 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f... |
ORPHA:420741 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel... |
OMIM:613150 |
Analbuminemia |
|
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... |
OMIM:616000 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... |
OMIM:612649 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... |
ORPHA:747 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cerebellar atrophy, Spasticity, Ataxia, Cataplexy |
OMIM:604121 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Atrophy/Dege... |
OMIM:619971 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati... |
ORPHA:99949 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperp... |
OMIM:614470 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... |
OMIM:616834 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... |
OMIM:613193 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Asthma, ... |
ORPHA:90280 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessels, Wide nasal bridge, Alveo... |
OMIM:601186 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Cryptorchidism, Anosmia, Aplasia/Hypoplasia o... |
ORPHA:3157 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Impaired pain sensation |
ORPHA:99014 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating tra... |
ORPHA:90363 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Hepatomegaly, Hypospadias, Antev... |
ORPHA:373 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Hypoplasia of penis, Eczema, Underdeveloped nasal alae, Cryptorchidism, Abnormality of... |
ORPHA:284160 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... |
OMIM:607330 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... |
OMIM:612650 |
H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyn... |
ORPHA:168569 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... |
ORPHA:542323 |
Pituicytoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to growth hormone stim... |
ORPHA:251623 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Attention deficit hyperactiv... |
OMIM:619320 |
Hyperostosis Cranialis Interna |
|
Chiari type I malformation, Hyposmia, Anosmia |
OMIM:144755 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, Spasticity |
OMIM:616817 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Enlarged cerebellum |
ORPHA:85165 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Abnormality of the sense of smell |
ORPHA:3201 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Cerebellar hypoplasia, Nail ... |
OMIM:127550 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Menometrorrhagia, Impaired thrombi... |
ORPHA:849 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... |
ORPHA:314404 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... |
ORPHA:60033 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Recurrent upper respiratory tract infections, Capillary leak, Dec... |
OMIM:615758 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bulbous nose, Recurrent otitis media, Periodontitis, Reduction of neutro... |
OMIM:266265 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... |
ORPHA:781 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Prominent superficial veins, Hypertriglyceridemia, Telangiectasia of the skin,... |
ORPHA:79474 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Cerebellar vermis atrophy, Gait ataxia |
OMIM:300354 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv... |
ORPHA:95433 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Cognitive impairment |
ORPHA:2301 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Acne, Infertility, Oligomenorrhea |
OMIM:604931 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr... |
ORPHA:1304 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Depressed nasal ridge, Elevated circulating phytanic acid concentration, Steatorrhe... |
OMIM:266510 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Progressive psychomotor deterioration,... |
ORPHA:363400 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint... |
ORPHA:289390 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinor... |
OMIM:617577 |
Lassa Fever |
|
Shock, Menometrorrhagia, Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
Acatalasemia |
|
Arteriosclerosis, Severe periodontitis, Microcytic anemia |
ORPHA:926 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... |
OMIM:618063 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat... |
OMIM:277900 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Progressive neurologic dete... |
ORPHA:247691 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Prominent nose, Cryptorc... |
OMIM:606593 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Increa... |
ORPHA:83313 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... |
ORPHA:48435 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Synophrys, Hypertonia, Sparse hair, Spasticity, Thick eyebrow |
OMIM:611091 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... |
OMIM:618801 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Trichinellosis |
|
Skin rash, Confusion, Increased circulating IgE level, Retinal hemorrhage, Central retinal artery... |
ORPHA:863 |
Charge Syndrome |
|
Aortic arch aneurysm, Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed na... |
ORPHA:138 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Coarctation of aorta, Hy... |
OMIM:244450 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Clitoral hypertrophy, Hypospadias, Female ext... |
ORPHA:90791 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Short attention span, Precocious ath... |
ORPHA:909 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide... |
OMIM:620197 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypospadias, Delayed menarche, Cryptorchidism, Depressed nasal ridge, Microp... |
OMIM:151100 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Depressed nasal bridge, Male pseudohermaphroditism, Respiratory insufficienc... |
ORPHA:140 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Depressed nasal bridge, Attention deficit hyperac... |
ORPHA:444002 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Paralysis, Paucity of anterior horn motor neurons... |
ORPHA:79139 |
Timothy Syndrome |
|
Prolonged QT interval, Depressed nasal bridge, Pneumonia, Bronchitis, Patent ductus arteriosus, V... |
OMIM:601005 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Wide nose, Hepatomegaly, Congestive heart... |
OMIM:617303 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Eosinophi... |
ORPHA:400 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Uterus didelphys, Abnormality of the sense of smell, Bicornuate uterus, P... |
ORPHA:958 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr... |
ORPHA:90795 |
48,Xxxy Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptor... |
ORPHA:96263 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Respiratory distress, Wide nose, Wide nasal bridge, Hypoplastic spleen |
ORPHA:89844 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Thick hair, Coarse hair, Dementia, Cerebellar hypoplasia, Sparse hair,... |
ORPHA:357074 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner... |
OMIM:614935 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Melioidosis |
|
Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A... |
ORPHA:31202 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis |
OMIM:203700 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal... |
ORPHA:85443 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Tachycardia, Apnea, Episodic tachypnea, Dementia, Progressive language deteri... |
ORPHA:79264 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Metrorrh... |
ORPHA:99147 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... |
ORPHA:2137 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Babinski sign, Vocal cord paralysis, Gait a... |
ORPHA:268882 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly, Autoimmune ... |
ORPHA:77293 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myositis, Hepatomegaly, Myocardial infar... |
ORPHA:3452 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Thin nail, Inability to walk, Vocal cord paral... |
OMIM:617799 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... |
ORPHA:171442 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Abnormal pleura morphology, Myocarditis, Abnormal lung morphology, Re... |
ORPHA:549 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Spasticity, Vocal cord paralysis, Myoclonus |
ORPHA:500144 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... |
OMIM:620327 |
Glossopharyngeal Neuralgia |
|
Chiari type I malformation, Dysesthesia, Vocal cord paralysis |
ORPHA:221098 |
Prolactinoma |
|
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Elevate... |
ORPHA:2965 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Hepatocellu... |
ORPHA:465508 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa... |
OMIM:617186 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Cognitive impairment |
ORPHA:1883 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair |
ORPHA:3051 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti... |
OMIM:618495 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... |
OMIM:616100 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Progressive neurologic deteriorat... |
ORPHA:91139 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia |
OMIM:607426 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Emphysema, Intracranial hemorrhage, Hypertension,... |
ORPHA:363618 |
Luscan-Lumish Syndrome |
|
Shyness, Long nose, Irregular menstruation, Polycystic ovaries, Chiari malformation, Recurrent ot... |
OMIM:616831 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Cryptorchidism, Anosmia, Primary ame... |
OMIM:603457 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Blepharitis, Abnormality of the sense of smell |
ORPHA:570 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... |
OMIM:615846 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... |
OMIM:606763 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... |
ORPHA:240094 |
East Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hyperaldosteronism, Difficulty walking, Action tremor |
ORPHA:199343 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Acanth... |
ORPHA:14 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Bronchiectasis, Increased circula... |
OMIM:242860 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr... |
ORPHA:264580 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Conjunctival telangiectasia, Lymphopenia, Sinusitis, Female hypo... |
OMIM:208900 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... |
OMIM:616271 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronar... |
ORPHA:140905 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory... |
ORPHA:466768 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory... |
ORPHA:449285 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... |
ORPHA:475 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Hypertension, Hepatic steatosis, Incr... |
OMIM:615238 |
Familial Afibrinogenemia |
|
Menometrorrhagia, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
3P25.3 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nose, Patent ductus arteriosus, Pulmonic sten... |
ORPHA:435638 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Hyposmia, Micropenis |
OMIM:618653 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n... |
ORPHA:2250 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Coronary artery atherosclerosis |
OMIM:616833 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Mental... |
OMIM:254900 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morphology... |
ORPHA:464329 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Attention deficit hyperactivity disorder, Fine hair |
ORPHA:251019 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch... |
OMIM:616005 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Unsteady gait, Hirsutism, Hypertonia, Long eyelashes, Cerebellar hypoplasia, Sparse hair, Thick e... |
OMIM:212066 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... |
ORPHA:319552 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... |
ORPHA:723 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl, Torticollis |
ORPHA:2872 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Increased circulating IgG lev... |
OMIM:619472 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormal... |
OMIM:612199 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
Frontonasal Dysplasia 2 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, ... |
OMIM:613451 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Whim Syndrome |
|
Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenit... |
ORPHA:51636 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... |
OMIM:619381 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ... |
OMIM:185070 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Anemia, Atherosclerosis |
ORPHA:93598 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, Slowed slurred speech, Attention deficit hyperactivity disorder |
ORPHA:284180 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Ataxia, Fine hair, G... |
ORPHA:2710 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... |
OMIM:615947 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Dyspnea, Lymphadenopathy, Hypotension, Telan... |
ORPHA:79455 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... |
ORPHA:189427 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... |
ORPHA:71 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis |
ORPHA:803 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Hyp... |
OMIM:102200 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat... |
ORPHA:905 |
Hereditary Bullous Dystrophy, Macular Type |
|
External genital hypoplasia, Pneumonia, Cryptorchidism, Heart murmur, Decreased testicular size |
ORPHA:1867 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Type II lissencephaly, Meningoencephalocele, Hydrocephalus, Cere... |
OMIM:236670 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... |
ORPHA:340 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Depressed nasal bridge, Broad nasal tip, Congestive heart failu... |
ORPHA:354 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circulating surfacta... |
ORPHA:60025 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... |
ORPHA:2552 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline, Ataxia |
OMIM:617883 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Aortic regurgitation, Pancytopenia, Pneumonia, Confusion, Hepatosplenomegaly |
ORPHA:309288 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, H... |
ORPHA:26793 |
Menkes Disease |
|
Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair |
OMIM:309400 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Sex reversal, Increased circulating renin level, Ambiguous ... |
ORPHA:168558 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Arthralgia/arthritis, Ost... |
ORPHA:449280 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Bradykin... |
ORPHA:254892 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:617099 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Sex reversal, Increased circulating renin level, Ambiguous ... |
ORPHA:289548 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... |
ORPHA:240071 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Poems Syndrome |
|
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrictive ve... |
ORPHA:2905 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Bloom Syndrome |
|
Hepatic steatosis, Elevated hemoglobin A1c, Decreased fertility in females, Prominent nose, Crypt... |
OMIM:210900 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:79240 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Decreased female lib... |
ORPHA:95512 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Elevated circulating creatine kinase concentration, Transien... |
ORPHA:167635 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Micropenis |
OMIM:619718 |
Graft Versus Host Disease |
|
Myositis, Tachycardia, Fasciitis, Pneumonia, Maculopapular exanthema, Inflammatory abnormality of... |
ORPHA:39812 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophrys, Hirsutism, Hypertonia,... |
OMIM:615485 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Splenomegaly, Thrombocytopeni... |
OMIM:617591 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Fg Syndrome Type 1 |
|
Hypospadias, Choanal atresia, Prominent nose, Abnormal cerebellum morphology, Cryptorchidism, Coa... |
ORPHA:93932 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cryptorchidism, Anosmia, Portal hypertension, Hepatosplenomegaly |
OMIM:609136 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Decreased female lib... |
ORPHA:95513 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Vici Syndrome |
|
Abnormal posturing, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:242840 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Impaired temperature sensation |
ORPHA:100976 |
Familial Cervical Artery Dissection |
|
Paresthesia, Paralysis |
ORPHA:36382 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, P... |
ORPHA:199299 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Dementi... |
OMIM:105210 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Cognitive im... |
ORPHA:79259 |
Tsh-Secreting Pituitary Adenoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Hypokalemia, Decreased fertility in males, Hypo... |
ORPHA:91347 |
Glucocorticoid Resistance, Generalized |
|
Hypertension, Increased circulating cortisol level, Irregular menstruation, Infertility |
OMIM:615962 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen... |
ORPHA:329918 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... |
ORPHA:297 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Highly arched eyebrow |
OMIM:616854 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Attention deficit hyperactivity disorder, Hypotension, Memory impairment, P... |
ORPHA:369873 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Dementia, Substantia nigra gliosis |
OMIM:607060 |
Charge Syndrome |
|
External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ... |
OMIM:214800 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Slurred speech, Fine hair, Poor fine motor coordination, Hypertonia, C... |
OMIM:277590 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Dementia, Hy... |
OMIM:176500 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... |
ORPHA:314478 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Optic disc ... |
ORPHA:1454 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Elevated circulating growth hormon... |
ORPHA:562 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Normocytic hypoplastic anemia, Agenesis of cerebellar vermis, Skin rash, Elev... |
OMIM:610377 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Acne, Precocious puberty, Oligozoospermia, Hypertension, Increased circulati... |
ORPHA:786 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Tip-toe gait, Dystonia, Agenesis of ... |
ORPHA:3008 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Sparse eyebrow, Fine hair, Cerebellar hypoplasia, Sparse hair, Inferior c... |
ORPHA:444072 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis, Pancre... |
ORPHA:435651 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Vasculit... |
ORPHA:343 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Hereditary Late-Onset Parkinson Disease |
|
Hyposmia, Dementia, Mental deterioration, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:411602 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... |
ORPHA:284227 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG leve... |
ORPHA:505248 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Optic nerve... |
OMIM:615574 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytop... |
ORPHA:293978 |
Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Orthostatic hypotension, Decreas... |
ORPHA:91355 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Atypical or p... |
ORPHA:83471 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Synophrys, Sparse hair, Parietal cortical atrophy |
OMIM:620075 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... |
ORPHA:99826 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Lymphadenopathy, Restrictive ven... |
ORPHA:83317 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, D... |
ORPHA:95409 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anosmia |
OMIM:243000 |
Lamellar Ichthyosis |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Cognitive impairment |
ORPHA:313 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis |
ORPHA:79085 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Cardiorespi... |
ORPHA:99828 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Intracranial hemorrhage, Hematochezia, Meno... |
ORPHA:326 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Pneumonia, Long nose, Wide nasal bridge, Respiratory insuf... |
ORPHA:2135 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... |
OMIM:144010 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Tremor, Chorea, Hydrocephalus, Abnormal pyrami... |
ORPHA:58 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abnormally loud pulmonic com... |
ORPHA:99104 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Athetosis |
OMIM:219150 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Skin rash, Confusion |
ORPHA:220295 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Myoclonus, Spasticity, Pachygyria, Po... |
OMIM:253280 |
De Barsy Syndrome |
|
Sparse hair, Athetosis, Cerebellar vermis hypoplasia, Progressive cerebellar ataxia |
ORPHA:2962 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P... |
ORPHA:90790 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a... |
OMIM:603467 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Listeriosis |
|
Respiratory distress, Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious en... |
ORPHA:533 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Arteria lusoria, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoriasiform derm... |
ORPHA:221139 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... |
ORPHA:98905 |
Noonan Syndrome 6 |
|
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline |
OMIM:613224 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Spastic diplegia |
OMIM:619980 |
Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Cryptorchidism, Patent ductus arteriosus, Anosmia, Keratoconjunctivitis, Arthrit... |
ORPHA:2363 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Abnormal posturing |
OMIM:614857 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Dystonia |
OMIM:614105 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Dementia, Falls, Cognitive impairme... |
ORPHA:683 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis |
ORPHA:99825 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ... |
ORPHA:228119 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cerebellar hypoplasia, S... |
ORPHA:2108 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Narrow nose, Progressive neurologic deterioration, Splenomegaly, Subdural hemorrhag... |
ORPHA:90324 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Narrow nasal bridge, Hypogonadotropic hyp... |
ORPHA:177907 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm... |
ORPHA:292 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Dry hair, Ataxia, Tremor, Cerebral atrophy, Dementia, Gait disturbance, Spars... |
OMIM:216400 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Confusion, Dyspnea, Hypertension, Hypokalemia, Respiratory fai... |
ORPHA:330021 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Abnormal heart rate... |
ORPHA:70588 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556037 |
Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Tachycardia, Abnormal mucociliar... |
ORPHA:90051 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Dandy-Walker malformation |
OMIM:302960 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalce... |
OMIM:619991 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Skin rash, Pneumonia, Decreased circu... |
ORPHA:2298 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Chiari type I malfo... |
OMIM:617506 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... |
ORPHA:39041 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, ... |
OMIM:219700 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia,... |
OMIM:168600 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Abnorm... |
ORPHA:77259 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556030 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, ... |
ORPHA:79456 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Confusion, Dementia, Cognitive impairment, Me... |
ORPHA:204 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Anosmia, Hypogonadism |
OMIM:613266 |
Occipital Horn Syndrome |
|
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Abnormality of the sense of smell, Esopha... |
ORPHA:198 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... |
OMIM:601675 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Hypoplasia of the pons, Intraventri... |
OMIM:616430 |
Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive ... |
ORPHA:319213 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Perry Syndrome |
|
Dementia, Central hypoventilation, Hypotension |
ORPHA:178509 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Psychomotor deterioration, Short attention span, Cerebellar gliosis, Apneic e... |
ORPHA:35069 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Abnormal cerebellum morphology, Coronary artery atherosclerosis, Renal artery stenosis, Cerebral ... |
OMIM:209010 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia, Recurrent skin infections |
OMIM:616488 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tac... |
OMIM:212138 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... |
OMIM:181000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Cryptor... |
ORPHA:353281 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Cushing Disease |
|
Adrenal hyperplasia, Acne, Paradoxical increased cortisol secretion on dexamethasone suppression ... |
ORPHA:96253 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Chops Syndrome |
|
Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Anomalous pulmonary ven... |
OMIM:616368 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Cerebral atrophy, Alopecia, Fragile nails |
OMIM:242150 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Hypertension, Impotence, Dementia, Hypotension, Memory impairment,... |
ORPHA:93256 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased fertil... |
OMIM:269700 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivit... |
OMIM:617557 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased... |
ORPHA:431361 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... |
ORPHA:361 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficie... |
OMIM:251260 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... |
ORPHA:25 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... |
OMIM:308300 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Anteverted nares, Aplasia/Hyp... |
ORPHA:2745 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100080 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Decreased nerve conduction... |
ORPHA:167 |
Kid Syndrome |
|
Cerebellar vermis hypoplasia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Onych... |
ORPHA:477 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne... |
ORPHA:171 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, P... |
ORPHA:85138 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, T lymphocytopenia, Infectious encephalitis, Autoimmune th... |
ORPHA:391487 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, A... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, A... |
ORPHA:363958 |
Meningococcal Meningitis |
|
Shock, Neonatal respiratory distress, Skin rash, Elevated circulating C-reactive protein concentr... |
ORPHA:33475 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:300967 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased fertility in females, Splenomeg... |
OMIM:608594 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, ... |
ORPHA:284 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Shigellosis |
|
Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnormal blood... |
ORPHA:810 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Abnormal ovarian m... |
ORPHA:95699 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Low hanging columella, Hypotension, Prominent nose |
OMIM:615668 |
Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Dementia, Bone m... |
ORPHA:101096 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... |
ORPHA:217346 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Neu... |
OMIM:607944 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Acute colitis,... |
ORPHA:544482 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... |
ORPHA:980 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Mel... |
ORPHA:319218 |
Cholera |
|
Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypovolemic ... |
ORPHA:173 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis |
OMIM:143890 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Pleural effus... |
ORPHA:188 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, ... |
ORPHA:139402 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Tremor, Coarse hair, Dystonia, Sparse hair, Dandy-Walker malforma... |
ORPHA:2750 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100082 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Hyperaldosteronism, Hypotension |
OMIM:264350 |
Gastrocutaneous Syndrome |
|
Depressed nasal bridge, Coronary artery atherosclerosis |
ORPHA:2069 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,... |
ORPHA:448237 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Hypotension, Prominent nasal... |
ORPHA:439822 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Ur... |
ORPHA:556 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Absent fingernail, Sparse hair, ... |
ORPHA:974 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Athetosis, Fine hair |
OMIM:614438 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A... |
ORPHA:2357 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Cockayne Syndrome B |
|
Dry hair, Ataxia, Cerebellar calcifications, Abnormal hair morphology, Tremor, Cerebral atrophy, ... |
OMIM:133540 |
Degcags Syndrome |
|
Prominent nose, Leukopenia, Iron deficiency anemia, Hepatomegaly, Hypospadias, Anteverted nares, ... |
OMIM:619488 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
Agel Amyloidosis |
|
Deficit in phonologic short-term memory, Nail dystrophy, Ataxia, Sparse hair |
ORPHA:85448 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Thrombocytosis, Elevated circulating creatine kinase concentration, Pu... |
ORPHA:94093 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla... |
ORPHA:37202 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Ventricula... |
ORPHA:159 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Chiari type I malformation, Otitis media, Aspiration, Hypospadias, Cryptorchidism, Patent ductus ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Chiari type I malformation, Otitis media, Aspiration, Hypospadias, Cryptorchidism, Patent ductus ... |
ORPHA:353277 |
Waardenburg Syndrome, Type 2E |
|
Anosmia, Vascular dilatation |
OMIM:611584 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Marshall-Smith Syndrome |
|
Apnea, Choanal atresia, Anteverted nares, Depressed nasal bridge, Bilateral cryptorchidism, Crypt... |
OMIM:602535 |
Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial p... |
OMIM:616433 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... |
ORPHA:186 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Aortic regurgitation, Pancytopenia, Short attention span, Depressed nasal bri... |
ORPHA:309282 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity |
ORPHA:1934 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Ataxia, Paraparesis, Fine hair, Tetraparesis, Sparse hair, Spasticit... |
OMIM:164200 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
African Trypanosomiasis |
|
Conjunctivitis, Iritis, Delirium, Abnormal EKG, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly... |
ORPHA:3385 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
Premature Aging Syndrome, Penttinen Type |
|
Retrocerebellar cyst, Sparse hair |
OMIM:601812 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Spasticity, Cerebral atrophy |
OMIM:616449 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... |
ORPHA:169090 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Choanal atresia, Prominent nasal bridge, Bilateral cryptorchidism, Patent ductus arteriosus, Recu... |
OMIM:300472 |
Nicolaides-Baraitser Syndrome |
|
Short attention span, Dry hair, Absent eyebrow, Sparse scalp hair, Low anterior hairline, Low pos... |
OMIM:601358 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa... |
ORPHA:682 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Progressive neurologic deterioration, Splenomegaly, Thrombocytopenia, Strido... |
OMIM:230900 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Low posterio... |
OMIM:115150 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Depressed nasal bridge, Pneumonia, Splenomegaly, Recurrent... |
OMIM:253200 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... |
ORPHA:1340 |
Coffin-Siris Syndrome |
|
Hypospadias, Thick nasal alae, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptor... |
ORPHA:1465 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Sparse hair, Sparse eyebrow |
OMIM:619869 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Down Syndrome |
|
Sparse hair, Gait disturbance, Impaired pain sensation |
ORPHA:870 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Chronic lung disease, Cerebellar vermis hypoplasia, Apnea, Hypo... |
ORPHA:397715 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Dementia, Cholecystitis, Neoplasm of... |
ORPHA:309271 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Apnea, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thr... |
ORPHA:391673 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100075 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Cerebellar vermis hypoplasia, Highly arched eyebrow, Sparse eyebrow, Synophrys... |
OMIM:619841 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow |
OMIM:613026 |
Encephalitis Lethargica |
|
Mental deterioration, Increased circulating antibody level, Bradycardia, Hyperventilation |
ORPHA:83600 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Cerebral atrophy, Sparse hair, Cerebellar cyst |
OMIM:311200 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Congestive heart failure, Myocarditis, Leukocytosis, Hypovole... |
ORPHA:31824 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancreatoblasto... |
ORPHA:99889 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, Hyper... |
ORPHA:86309 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, Broad-based gait, Fine hair, Hypertonia, Sparse hair |
ORPHA:251028 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration |
OMIM:615561 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul... |
ORPHA:904 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia... |
ORPHA:79255 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous can... |
OMIM:158310 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Cerebral atrophy, Chiari type I malformation... |
OMIM:218040 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hyperten... |
ORPHA:178478 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... |
OMIM:260920 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Confusion, Congestive ... |
ORPHA:31826 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
White-Sutton Syndrome |
|
Sparse hair, Cerebral atrophy, Waddling gait |
OMIM:616364 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Paten... |
ORPHA:280633 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Abn... |
ORPHA:77261 |
Poliomyelitis |
|
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations |
ORPHA:2912 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Anteverted nares, Pneumonia, Depressed nasal bridge, Dyspnea, Bulbous nose, Wide na... |
OMIM:617809 |
Inhalational Anthrax |
|
Respiratory distress, Confusion, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal ... |
ORPHA:247257 |
Lissencephaly Due To Lis1 Mutation |
|
Dilation of Virchow-Robin spaces, Cerebellar vermis hypoplasia, Neonatal hyperbilirubinemia, Aspi... |
ORPHA:95232 |
Noonan Syndrome 14 |
|
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline |
OMIM:619745 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Anteverted nares, Depressed nasal bridge, Recurrent... |
ORPHA:314655 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Mend Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol,... |
ORPHA:401973 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypotension, Prolong... |
ORPHA:199296 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Ta... |
ORPHA:20 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
Glass Syndrome |
|
Sparse hair, Broad-based gait, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Choreoathetosis, Sparse hair |
OMIM:234100 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Macs Syndrome |
|
Sparse hair, Alopecia, Sparse eyebrow |
OMIM:613075 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Partial agenesis of the corpus callosum, ... |
OMIM:220111 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Hydroxykynureninuria |
|
Tachycardia, Breathing dysregulation, Abnormal circulating tryptophan concentration, Hypotension,... |
ORPHA:79155 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... |
ORPHA:134 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Serotonin Syndrome |
|
Tachycardia, Confusion, Tachypnea, Hypertension, Hypotension, Mental deterioration, Delirium |
ORPHA:43116 |
Roifman-Chitayat Syndrome |
|
Arthritis, Wide nasal bridge, Depressed nasal bridge, Pneumonia |
OMIM:613328 |
Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pneumonia, Choanal atresia, Depressed nasal bridge, Anteverted nares, Cryptorchidism... |
OMIM:122470 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Cognitive impairment, Sparse hair, Woolly hair, Trichorrhexi... |
OMIM:222470 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Cog1-Cdg |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia |
ORPHA:263508 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:177735 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Hepatomegaly, Progressive neurologic deterioration, Adenoidit... |
ORPHA:581 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Asthma, Heart murmur, Ov... |
ORPHA:100079 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Broad nasal tip |
ORPHA:530983 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Hypoperistal... |
ORPHA:1018 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... |
OMIM:241080 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration p... |
OMIM:619167 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... |
ORPHA:678 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Recurrent respiratory infections, Hypertriglyceridemia, Hypospadias, Pneum... |
OMIM:264090 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, Hy... |
ORPHA:805 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Opitz-Kaveggia Syndrome |
|
Fine hair, Frontal upsweep of hair, Attention deficit hyperactivity disorder, Sparse hair, Spasti... |
OMIM:305450 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Wrinkly Skin Syndrome |
|
Cerebellar vermis hypoplasia, Slurred speech, Progressive cerebellar ataxia, Sparse hair, Dandy-W... |
ORPHA:2834 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia |
OMIM:614813 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Fontaine Progeroid Syndrome |
|
Prominent superficial veins, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Small scrotum... |
OMIM:612289 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Ataxia, Confusion, Action tremor, Tremor, Synophrys, Chiari type I malformatio... |
ORPHA:3455 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
Plague |
|
Respiratory distress, Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Hematemesis, Lymphadenit... |
ORPHA:707 |
Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia |
OMIM:609460 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Attention deficit hyperactivity... |
OMIM:607721 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Prominent nose, Precocious puberty, Cryptorchidism, ... |
ORPHA:96191 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Cysticercosis |
|
Confusion, Iridocyclitis, Dementia, Stroke, Increased circulating antibody level, Mental deterior... |
ORPHA:1560 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure... |
OMIM:261740 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Precocious puberty, Crypto... |
ORPHA:438213 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Highly arched eyebrow, Cerebral atrophy, Fine hair, Gait ataxia, Hypoplastic ni... |
OMIM:280000 |
Rift Valley Fever |
|
Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Uveitis, Hepatitis, Melen... |
ORPHA:319251 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph... |
ORPHA:562639 |
Bone Marrow Failure Syndrome 3 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Small nail |
OMIM:617052 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Ataxia |
OMIM:300661 |
Menkes Disease |
|
Hypopigmentation of hair, Chorea, Hypertonia, Sparse hair, Woolly hair, Spasticity |
ORPHA:565 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Hyperventilation |
ORPHA:64280 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Yellow Fever |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated... |
ORPHA:99829 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Sparse eyelashes,... |
OMIM:210710 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Skin rash, Confusion, Jaundice, Abnormal respiratory system p... |
ORPHA:90062 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Abnormality of the menstrual cycle, Venous insufficiency, Osteoarthritis, Cystocele, Decre... |
ORPHA:285 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Confusion, H... |
ORPHA:466650 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
Aa Amyloidosis |
|
Hepatomegaly, Cholestasis, Hypotension |
ORPHA:85445 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short attention span, Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair |
OMIM:613563 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,... |
ORPHA:509 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, As... |
OMIM:301072 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Attention deficit hyperactivity dis... |
ORPHA:221008 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomot... |
ORPHA:2072 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Cholecystitis |
ORPHA:309263 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Gitelman Syndrome |
|
Ataxia, Paresthesia, Paralysis |
OMIM:263800 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... |
ORPHA:64744 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Tip-toe gait, Sparse hair, Cerebral cortical atrophy |
OMIM:252500 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Chiari malformation, Hypoplasti... |
OMIM:305600 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Impaired pain sensation |
OMIM:601559 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypospadias, Decreased response to growth hormone stimulation test, Anteverted nares, Congestive ... |
ORPHA:444077 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis |
ORPHA:79102 |
Pmm2-Cdg |
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Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, Intracranial hemorrhage, Hype... |
ORPHA:79318 |
Hellp Syndrome |
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Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro... |
ORPHA:244242 |
Monosomy 22 |
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Sparse hair, Synophrys, Hypertonia |
ORPHA:96123 |
Hawkinsinuria |
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Sparse hair |
OMIM:140350 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneu... |
ORPHA:79404 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Sparse hair |
OMIM:614114 |
Scalp-Ear-Nipple Syndrome |
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Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Lipodystrophy, Familial Partial, Type 7 |
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Sparse scalp hair, Clonus, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Dysd... |
OMIM:606721 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Cardiorespiratory arrest, Nasal congestion, Apnea, Hypotension |
OMIM:608643 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level |
OMIM:114065 |
Leprosy |
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Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ... |
ORPHA:548 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Congenital Tricuspid Stenosis |
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Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Cartilage-Hair Hypoplasia |
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Sparse hair, Sparse eyebrow, Cognitive impairment |
ORPHA:175 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Craniolenticulosutural Dysplasia |
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Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Autosomal Dominant Hypocalcemia |
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Eczema, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, A... |
ORPHA:428 |
Ileal Neuroendocrine Tumor |
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Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... |
ORPHA:100078 |
Tooth Agenesis, Selective, 4 |
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Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:129900 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Sparse hair, Coarse hair |
OMIM:118650 |
Alström Syndrome |
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Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... |
ORPHA:64 |
Arboleda-Tham Syndrome |
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Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Prominent ... |
OMIM:616268 |
Semilobar Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Proboscis, Depressed nasal ... |
ORPHA:93924 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Familial Hypoaldosteronism |
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Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Gout, Hypertension, Tubulointerstitial nephritis, ... |
OMIM:174000 |
Renal Tubular Dysgenesis |
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Respiratory insufficiency, Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal penis morpholo... |
ORPHA:95455 |
Ablepharon Macrostomia Syndrome |
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Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Rothmund-Thomson Syndrome Type 2 |
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Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... |
ORPHA:221016 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Wide nose, Labial hypertrophy, ... |
ORPHA:508 |
Myhre Syndrome |
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Sparse hair, Ataxia, Thick eyebrow, Fine hair |
OMIM:139210 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Sparse hair, Attention deficit hyperactivity disorder |
OMIM:619934 |
Cleft Velum |
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Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Miller-Dieker Lissencephaly Syndrome |
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Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Recurrent aspiration pneumonia |
OMIM:247200 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Confusion, Respirator... |
ORPHA:79138 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair |
OMIM:218330 |
Chime Syndrome |
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Sparse hair, Cerebral cortical atrophy, Fine hair |
ORPHA:3474 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy |
ORPHA:436252 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Sparse body hair, Breast hypoplasia |
ORPHA:432 |
Doors Syndrome |
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Respiratory distress, Small cerebellar cortex, Adrenal hyperplasia, Anteverted nares, Broad nasal... |
ORPHA:79500 |
Branchiooculofacial Syndrome |
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Agenesis of cerebellar vermis, Supernumerary nipple, Low posterior hairline, Premature graying of... |
OMIM:113620 |
Lenz-Majewski Hyperostotic Dwarfism |
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Sparse hair, Cerebral cortical atrophy |
OMIM:151050 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Sparse hair, Difficulty walking, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Wide nose, Anteverted nares, Bulbous nose, Cerebellar hypoplasia, Memory impairment, Abnormal soc... |
ORPHA:314647 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior, Cholecystitis |
ORPHA:309256 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Anteverted nares, Pro... |
ORPHA:1675 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Rigidity, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spasticity |
ORPHA:2636 |
Renpenning Syndrome 1 |
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Brittle hair, Cerebral atrophy, Sparse hair, Spasticity, Sparse lateral eyebrow |
OMIM:309500 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Sparse hair, Loss of ambulation, Unsteady gait, Nail dysplasia |
OMIM:616682 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:607364 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Sparse hair, Aplasia of the sweat glands, Sparse scalp hair |
OMIM:612132 |
Lysinuric Protein Intolerance |
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Sparse hair, Fine hair |
OMIM:222700 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sparse hair |
OMIM:620186 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Premature thelarche, Autoimmune thrombocytopenia, Cryptorchidism, Wide nasal br... |
OMIM:147920 |
Cranioectodermal Dysplasia 2 |
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Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:613610 |
Hereditary Angioedema Type 1 |
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Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension |
ORPHA:100050 |
Scalp-Ear-Nipple Syndrome |
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Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sparse hair, Short attention span, Frontal hirsutism |
OMIM:617157 |
Distal Renal Tubular Acidosis |
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Paralysis |
ORPHA:18 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Sparse hair |
OMIM:620005 |
Gitelman Syndrome |
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Paresthesia, Paralysis |
ORPHA:358 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Sparse hair, Nail dystrophy, Sparse eyebrow |
OMIM:619127 |
Primrose Syndrome |
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Sparse scalp hair, Ataxia, Absent facial hair, Synophrys, Neurodegeneration, Attention deficit hy... |
OMIM:259050 |
Roberts Syndrome |
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Sparse hair |
ORPHA:3103 |
Congenital Fiber-Type Disproportion Myopathy |
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Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
Trichorhinophalangeal Syndrome, Type Ii |
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Sparse scalp hair, Thick eyebrow, Hemiparesis, Sparse hair, Alopecia of scalp, Fragile nails |
OMIM:150230 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, Hypospadias, Absent nipple, Anteverted nares, Cryptorchidism, Heart... |
OMIM:216340 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Short attention span, Fasciitis, Osteomyelitis, Anemia, Abnormality of humoral immunity, Aplasia ... |
ORPHA:642 |
Restrictive Dermopathy |
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Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... |
ORPHA:1662 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
Tyrosinemia, Type I |
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Periodic paralysis |
OMIM:276700 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis |
OMIM:259730 |
Pineoblastoma |
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Paralysis |
ORPHA:251909 |
Menke-Hennekam Syndrome 1 |
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Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Wrinkly Skin Syndrome |
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Sparse hair, Short nail, Fragile nails |
OMIM:278250 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Roberts-Sc Phocomelia Syndrome |
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Sparse hair |
OMIM:268300 |