Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Manganese Poisoning |
|
Dystonia, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, ... |
ORPHA:306682 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... |
ORPHA:98764 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Kufor-Rakeb Syndrome |
|
Tremor, Hypertonia, Ataxia, Parkinsonism, Gait disturbance, Myoclonus, Torticollis, Aggressive be... |
OMIM:606693 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Impulsivity, Aggressive behavior, Akinesia, Postural tremor, Limb ataxia, G... |
OMIM:607454 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Impulsivity, Akinesia, Tremor, Park... |
ORPHA:240071 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Diminished movement, Bilatera... |
ORPHA:97349 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap... |
OMIM:168605 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... |
OMIM:603218 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Depression, Clumsiness, Addictiv... |
ORPHA:399 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... |
OMIM:619150 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ... |
OMIM:300894 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Aggressive behavior, Rigidity, Chore... |
OMIM:607136 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Dystonia, Spastic paraplegia, Gait disturbance, Dysphagia, Memory impairment, Ptosis |
OMIM:108600 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Dementia, Gait disturbance, Dysphagia, Emotional lability |
OMIM:607674 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia... |
ORPHA:411602 |
Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Chorea, Dementia, Gait disturbance, Dystonia, Memory impairment |
ORPHA:98934 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... |
OMIM:618093 |
Sydenham Chorea |
|
Chorea, Unsteady gait, Irritability, Inappropriate behavior, Hemiballismus, Compulsive behaviors,... |
ORPHA:306731 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking, Ptosis |
OMIM:616330 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonus, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait... |
ORPHA:101109 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia,... |
ORPHA:240103 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy... |
OMIM:618317 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Abnormal eyelid morphology, Tremor, Babinski sig... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Loss of ambulation, Increased circ... |
ORPHA:228346 |
Chorea, Benign Hereditary |
|
Chorea, Dementia, Gait disturbance, Frequent falls |
OMIM:118700 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Co... |
ORPHA:48818 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... |
OMIM:606159 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Parkinsonism, Abnormality of the thyroid gland, Sensory ataxia, Depression, Ca... |
OMIM:609286 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Depression, Choreoat... |
ORPHA:13 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... |
OMIM:606438 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing |
OMIM:618760 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Growth delay, Hy... |
OMIM:619738 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclon... |
ORPHA:71277 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Abnormali... |
ORPHA:382 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... |
ORPHA:66624 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Frequent falls, Difficulty walking, Ptosis |
OMIM:616227 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Cardi... |
ORPHA:401768 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Oculogyric crisis, Inability to walk, Chorea, Self-injurious behavior, Hyperkinetic mov... |
OMIM:614254 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Action tremor, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairmen... |
OMIM:620158 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Lower limb spasticity, Ataxia, Dystonia, Im... |
OMIM:617854 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Chorea, Abnormal pyramidal sign, Gait ataxia, Opisthotonus, Hypertonia, Lethargy, Confusion, Cran... |
OMIM:607483 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Narrow palpebral fissure, Inapprop... |
OMIM:616269 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Parkinsonism, Involuntary movements, Depression, Choreoathetosis, Dementia, Cognitive impairment,... |
OMIM:616413 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... |
ORPHA:500180 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardatio... |
OMIM:620270 |
Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Mental deterioration, S... |
ORPHA:309169 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... |
ORPHA:157941 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Ataxia, Tongue fasciculations, Attention deficit hyperactivity disorder, Hypokinesia |
OMIM:620007 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Huntington Disease |
|
Rigidity, Chorea, Depression, Bradykinesia, Gait ataxia, Dementia |
OMIM:143100 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Cognitive impairment... |
OMIM:258501 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Chorea, Absence of pubertal development, Dementia |
OMIM:212840 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, I... |
ORPHA:238455 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation, Ptosis |
OMIM:617235 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... |
OMIM:616840 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abn... |
OMIM:617672 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Attention deficit ... |
OMIM:617182 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short attention span, Short stature, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:171706 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykines... |
ORPHA:98755 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Diminished movement, Tongue thrusti... |
OMIM:608643 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... |
OMIM:615362 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... |
ORPHA:324588 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... |
ORPHA:157846 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Orthostatic hypotension, Resting tremor, Rigidity, Depression, Bradykinesia, Demen... |
OMIM:616710 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... |
OMIM:601104 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst... |
ORPHA:53351 |
Paroxysmal Kinesigenic Dyskinesia |
|
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Involuntary movements, Chorea, Self-injurious behavior, Athetosis, Hyperkinetic movemen... |
OMIM:617493 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental... |
OMIM:615924 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Self-injurious behavior, Athetosis, Dystonia, Intrauterine growth re... |
OMIM:619922 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behav... |
OMIM:617270 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Epicanthus, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Growth de... |
OMIM:615673 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Ptosis, Progressive ptosis, Gait disturbance, Dysphagia |
OMIM:164300 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia... |
OMIM:261630 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... |
OMIM:208920 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Sneddon Syndrome |
|
Tremor, Chorea, Intracranial hemorrhage, Hypertension, Hemiparesis, Dementia, Mental deterioratio... |
ORPHA:820 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Epicanthus, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to wa... |
OMIM:618004 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Long eyebrows, Atrioventricular block, Growth delay, Bradycardia, Truncal ataxia, Inten... |
OMIM:614407 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Depression, Sel... |
ORPHA:485350 |
Congenital Myopathy 9A |
|
Short stature, Tongue fasciculations, Akinesia |
OMIM:618822 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Delirium, Abnormal EKG, Abnorma... |
ORPHA:3385 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme... |
OMIM:615768 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Ga... |
ORPHA:391417 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Epicanthus, Bradycardia, Dysphagia, Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:616276 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Hypergonadotropic hypogonadism, Short stature, Chorea, Dysmetria, Gait ataxia, Dysdiadoch... |
ORPHA:251347 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Progressive neurologic deterioration, Congestive heart failure, Cho... |
ORPHA:70472 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Epicanthus, Ataxia, Cardiac arrest |
OMIM:618951 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Mental deterioration, Chorea, Parkinsonism |
OMIM:616922 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Dementia, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Friedreich Ataxia |
|
Diabetes mellitus, Dystonia, Inability to walk, Chorea, Babinski sign, Impaired proprioception, D... |
ORPHA:95 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Irritability |
OMIM:613811 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Tetraplegia, Irritability, Tongue fasciculations, Hypokinesia |
OMIM:300816 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Abnormal pyramidal sign, Dementia, Gait disturbance, Progressive choreoathetosis |
OMIM:118750 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Spasticity, Choreoathetosis, He... |
OMIM:606777 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Abnor... |
ORPHA:209905 |
Baker-Gordon Syndrome |
|
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious beh... |
OMIM:618218 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Epicanthus, Short stature, Impulsivity, Aggressive behavior, Poor coordination, St... |
OMIM:309548 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram... |
ORPHA:397946 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia |
OMIM:609161 |
Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Ptosis |
OMIM:616304 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Short stature, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation, P... |
ORPHA:52503 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Hartnup Disorder |
|
Hyperactivity, Short stature, Hypertonia, Attention deficit hyperactivity disorder, Episodic atax... |
OMIM:234500 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospa... |
OMIM:617282 |
Fraxe Intellectual Disability |
|
Hyperactivity, Epicanthus, Short stature, Impulsivity, Aggressive behavior, Clumsiness, Stereotyp... |
ORPHA:100973 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Athetosis, Chorea, Dystonia |
OMIM:615473 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan... |
OMIM:619028 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Action tremor, Distal sensory impairment, Bradykinesia, Cardiomyopathy, Depression, Cogwh... |
ORPHA:254886 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Dystonia 16 |
|
Limb dystonia, Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnorm... |
OMIM:612067 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia |
OMIM:618501 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ptosis, Ataxia, Dysphagia |
OMIM:618637 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Dystonia, Ocul... |
OMIM:612716 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Broad-based gait, Ataxia, Clonus, Bilateral ptosis, Unsteady gait, Abnormal pyramidal sign, Babin... |
OMIM:616479 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... |
OMIM:617013 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Ataxia, Bilateral ptosis, Depression, Dementia, Cognitive impairment, Dysphagia |
ORPHA:329314 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Dementia, Abnor... |
OMIM:604290 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Short stature, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata... |
OMIM:276880 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... |
ORPHA:240085 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, I... |
ORPHA:300605 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Babinski sign, Progressive psychomotor deterioration, Spasticity, D... |
ORPHA:309271 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Cardiac arrest, Spasticity, Irritability, Bradycardia, Hypertrophic cardiom... |
OMIM:618235 |
Fetal Akinesia Syndrome, X-Linked |
|
Telecanthus, Narrow palpebral fissure, Stillbirth, Blepharophimosis, Hypokinesia |
OMIM:300073 |
Huntington Disease-Like 3 |
|
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Dystonia, Chorea, ... |
ORPHA:157946 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:610217 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Epilepsy, Progressive Myoclonic, 8 |
|
Progressive neurologic deterioration, Limb ataxia, Choreoathetosis, Dementia, Gait disturbance, F... |
OMIM:616230 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Psychomotor deterioration, Deficit in phonologic short-term memory, Abnormal atrioventricular con... |
ORPHA:329336 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Mental deterioration, Hemi... |
OMIM:614820 |
Foxg1 Syndrome |
|
Dystonia, Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth ret... |
ORPHA:561854 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea, Short stature |
OMIM:309541 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypogonadotropic hypogonadism, Ataxia, Hypergonadotropic hypogonadism, Short stature, Chorea, Bab... |
OMIM:604168 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity, Ptosis |
OMIM:618451 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor de... |
ORPHA:363400 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Short stature, Chorea, Dysmetria, Spasticity, Ptosis |
OMIM:617931 |
Arthrogryposis Multiplex Congenita 5 |
|
Cardiac arrest, Akinesia, Hand tremor, Upslanted palpebral fissure, Growth delay, Hypertonia, Dys... |
OMIM:618947 |
Wernicke-Korsakoff Syndrome |
|
Ataxia, Confusion, Memory impairment, Delirium, Ptosis |
OMIM:277730 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Limb myoclonus, Dysmetria, Dysphagia, Limb ataxia, Hand tremor, Intention ... |
ORPHA:276198 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Short ... |
ORPHA:442835 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... |
OMIM:604802 |
Fetal Akinesia Deformation Sequence |
|
Intrauterine growth retardation, Pterygium, Hypokinesia, Akinesia |
ORPHA:994 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Irritability, Hypertonia, Difficulty walk... |
ORPHA:79097 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Irritability, Involuntary movements, Tongue fasciculations, Hypokinesia |
ORPHA:238329 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Progressive neurologic deterioration, Opisthotonus, Dysphagia, Neonatal death, Intraute... |
OMIM:608013 |
Mepan Syndrome |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonu... |
ORPHA:508093 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia,... |
ORPHA:225147 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Nasu-Hakola Disease |
|
Chorea, Frontal lobe dementia, Irritability, Disinhibition, Oculomotor apraxia, Memory impairment... |
ORPHA:2770 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Dysphagia, Loss of ambulation, Decreased miniature endplat... |
OMIM:616321 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... |
ORPHA:254881 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... |
OMIM:615157 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Intrauterine growth retardation, Epicanthus, Multiple pterygia |
OMIM:253290 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitiv... |
OMIM:617284 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Spastic tetraplegia, Growth delay, Hypertonia, Hypothyroidism |
OMIM:619147 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Epicanthus, Ataxia, Rigidity, Repetitive compulsive be... |
OMIM:300260 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Depression, Bradykinesia, ... |
ORPHA:71517 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Te... |
OMIM:604391 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... |
OMIM:619470 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Cognitive impairment,... |
OMIM:614487 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Agitation, Pancreati... |
ORPHA:276608 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Hypertension, Hypogonadism, Myoclonus, Dysphagia, Diabetes i... |
ORPHA:97229 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait distur... |
OMIM:168601 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Growth delay, Dysphagia, Self-mutilation, Ptosis |
OMIM:619422 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Frontotemporal dementia, Paraparesi... |
ORPHA:275872 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Short stature, Spastic paraparesis |
OMIM:312910 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Cognitive impairment, Hypotension, Attention deficit hyperactivi... |
ORPHA:369873 |
Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Clonus, Sudden cardiac death, Precocious puberty, Tremor, Chorea, Abno... |
ORPHA:58 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Bradycardia, Dysphagia |
OMIM:620265 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Alternating Hemiplegia Of Childhood |
|
Progressive neurologic deterioration, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnorm... |
ORPHA:2131 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Epicanthus, Impulsivity, Almond-shaped palpebral fissure, Synophrys, Hand tremor, Upslanted palpe... |
ORPHA:589905 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Heart murmur, Myoclonus, Pulmonic stenosis, Attention defi... |
OMIM:617600 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... |
OMIM:164400 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis, Dysphagia |
OMIM:118800 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Hypokinesia, Sensory ataxia |
OMIM:618184 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, ... |
ORPHA:683 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Akinesia |
OMIM:619334 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, ... |
OMIM:233910 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Dystonia, Dysphagia |
OMIM:271930 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... |
OMIM:614831 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Bilateral ptosis, Difficulty walking, Dystonia, Del... |
ORPHA:330050 |
Pontocerebellar Hypoplasia, Type 8 |
|
Involuntary movements, Chorea, Synophrys, Gait ataxia, Hypertonia, Long eyelashes, Impaired socia... |
OMIM:614961 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoath... |
OMIM:261640 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Broad-based gait, Mildly reduced left ventricular ejection fraction, Ataxia, Dysmetria, Dysphagia... |
OMIM:618098 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium |
ORPHA:208441 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Dystonia, Intrauterine growth retard... |
OMIM:618238 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dysphagia, Lo... |
OMIM:618088 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Ptosis-Vocal Cord Paralysis Syndrome |
|
Hemiplegia, Severe short stature, Ptosis |
ORPHA:2997 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Short stature, Inability to walk, Chorea, Spa... |
OMIM:617864 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogon... |
ORPHA:289494 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairm... |
ORPHA:542310 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Intrauterine growth retardation, Pterygium, Akinesia |
OMIM:225790 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Irritability, Spasticity, Dystonia |
OMIM:614249 |
Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Dysphagia, Sp... |
ORPHA:3299 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Short stature, Dilated cardiomyopathy, Babinski sign, Spasticity, Myoclonus, Co... |
OMIM:252011 |
Trisomy X |
|
Epicanthus, Tremor, Depression, Upslanted palpebral fissure, Attention deficit hyperactivity diso... |
ORPHA:3375 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impairment, Steppage... |
OMIM:607684 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Spasticity, Dystonia |
OMIM:616277 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Bruxism, Spasticity, Ptosis |
OMIM:620149 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc... |
ORPHA:90117 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Aggressive behavior, Clumsiness, Tongue fasciculations, Dysphagia, Hypokinesia |
OMIM:614707 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Ptosis |
OMIM:614750 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Depression, Clumsiness, Gr... |
ORPHA:90674 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Growth delay, Dystonia, Lethargy |
ORPHA:289916 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impai... |
OMIM:606002 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Hypertonia, Lethargy, Hypothyroidism, Hyperthyroidism, Ataxia, Dilated cardi... |
ORPHA:254892 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Parkinsonism, Impaired distal proprioception, Rigidity, Bilateral ptosis, Impaired dist... |
OMIM:258450 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Syncope, Gait disturbance, Cogni... |
OMIM:603472 |
Poliomyelitis |
|
Confusion, Anorexia, Paralysis, Diminished movement, Inability to walk, Paraparesis, Hypertension... |
ORPHA:2912 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity, Intrauterine growth retar... |
OMIM:617065 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Emotional lability, Intention tr... |
ORPHA:98890 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Incoordination, Aggressive behavior, Paralysis, Parap... |
ORPHA:43 |
Choreoacanthocytosis |
|
Chorea, Oromandibular dystonia, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulati... |
ORPHA:2388 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature,... |
OMIM:608747 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Cerebral palsy, Spasticity |
OMIM:618557 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Mental deterioration... |
OMIM:609260 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Short stature, Impulsivity, Aggressive behavior, Chorea, Athetosis, Downslanted palpebral... |
OMIM:619435 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Vocal cord paralysis, Glomus jugular tumor, Adrenal p... |
OMIM:605373 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hy... |
OMIM:610246 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Head-ban... |
ORPHA:86309 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Ankle clonus, Hy... |
OMIM:617435 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemo... |
ORPHA:25 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral ptosis, Inability to walk, Spasticity, Downslanted palpebral fissures |
OMIM:619701 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Progressive neurologic deterioration, Aggressive behavior, Spastic tetraplegia, Spa... |
OMIM:300438 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Dementia, Gait imbalance, Myoclonus, Frequent falls |
OMIM:301020 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Dilated cardiomyopathy, S... |
OMIM:618321 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Epicanthus, Dystonia, Ataxia, Involuntary movements, Inability to walk, Chorea, Synophrys, Upper ... |
OMIM:617804 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Broad-based gait, Short stature, Babinski sign, Abnormal pyramidal si... |
ORPHA:363429 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short stature, Spastic tetraparesis, Highly arched eyebrow, Inability to walk, Growth delay, Ptosis |
ORPHA:438178 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:617916 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Birk-Aharoni Syndrome |
|
Inability to walk, Chorea, Spastic tetraplegia, Thick eyebrow |
OMIM:620071 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance, Dystonia, Ment... |
OMIM:250100 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment |
OMIM:614018 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ... |
OMIM:601042 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Co... |
ORPHA:225154 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Ptosis |
OMIM:612016 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Hyperinsulinemia, Pr... |
ORPHA:97279 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Short stature, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, ... |
OMIM:620023 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Epicanthus, Thick eyebrow, Cerebral palsy, Highly arched eyebrow, Short stature, U... |
OMIM:615834 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Bilateral ptosis, Fatigable weakness, Gait disturbance, Ptosis |
OMIM:614198 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia |
OMIM:104290 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Tip-toe ... |
ORPHA:565624 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycardia, Dystonia, Pulmon... |
OMIM:616299 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Epicanthus, Cerebral palsy, Short stature, Highly arched eyebrow, Repetitive compu... |
ORPHA:352490 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Epicanthus, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
ORPHA:444002 |
Developmental And Epileptic Encephalopathy 84 |
|
Epicanthus, Chorea, Synophrys, Babinski sign, Opisthotonus, Dystonia, Blepharophimosis, Spasticit... |
OMIM:618792 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Stereot... |
OMIM:618497 |
Classic Galactosemia |
|
Speech apraxia, Decreased serum insulin-like growth factor 1, Incoordination, Ataxia, Postural tr... |
ORPHA:79239 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer'... |
OMIM:312080 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Dysphagia, Oculom... |
ORPHA:313772 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Impaired pain sensation |
OMIM:167400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Ataxia, Parkinsonism, Frontotemporal dementia, Babinski sign, Frontal lobe dementia, Cognitive im... |
OMIM:615911 |
Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Depression, Clumsiness, Up... |
OMIM:612953 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Hypertonia, Bradycardia, Dystonia |
OMIM:614654 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysphagia, Dysmetria, Gait ataxia, Hypertension, Bra... |
ORPHA:93256 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Anorexia, Myocarditis, Chorea, Gait disturbance, Fasciculations, Hemibal... |
ORPHA:3099 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Growth delay, Cognitiv... |
ORPHA:70594 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... |
ORPHA:521406 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Progressive neurologic deterioration, Tremor, Hypertension, Hypertonia, Gait distu... |
ORPHA:1192 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:618362 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tr... |
OMIM:614307 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Limb ataxia, Dysmetria, Tortuosity of conjunctival vessels, Progressive cerebella... |
ORPHA:284289 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Hypogonadotropic hypogonadism, Ataxia, Postural tremor, Short stature, Tremor, Babinski... |
OMIM:607694 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Limb dysmetria, Ptosis |
ORPHA:324262 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Babinski sign, Growth delay, Irritability, Dysphagia, Lethargy, Ptosis |
OMIM:618226 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Ptosis, Paralysis, Difficulty walking, Distal sensory impairment |
OMIM:605285 |
Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Abnormal eyelid morphology, Puberty and gonadal disorders, Co... |
ORPHA:525731 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Ptosis |
OMIM:620086 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity, Growth delay |
OMIM:312840 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation, Intrauterine growth retardation |
OMIM:615010 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... |
OMIM:137440 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Bilateral ptosis, Synophrys, Bradycardia, Neonatal death,... |
OMIM:620351 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Dementia, Tongue fasciculations, Difficulty walking, Dysphagia, Myoclonus, Frequent falls |
OMIM:159950 |
Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
Arthrogryposis, Distal, Type 7 |
|
Ptosis, Short stature, Dysphagia |
OMIM:158300 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia... |
OMIM:213200 |
Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Upslanted palpebral fissure, Hypertonia,... |
OMIM:619092 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Upslanted p... |
ORPHA:765 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Irritability, Myoclonus |
OMIM:609056 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Oromandibular dystonia, Dysm... |
ORPHA:101 |
Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Telangiectasia of the skin, Short stature, Tremor, Gait disturbance, T... |
ORPHA:100 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun... |
OMIM:610185 |
Myasthenic Syndrome, Congenital, 8 |
|
Ptosis |
OMIM:615120 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic pa... |
ORPHA:329284 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ptosis, Ataxia, Dysphagia |
OMIM:619473 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Impaired social in... |
ORPHA:544254 |
Nmda Receptor Encephalitis |
|
Short attention span, Orthostatic hypotension, Confusion, Involuntary movements, Oculogyric crisi... |
ORPHA:217253 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Bilateral ptosis, Inappropriate laughter, Spasticity, Recurrent hand flapping, Downslanted palpeb... |
OMIM:618859 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Growth delay, Ataxia |
OMIM:278780 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Fatigable weakness, Frequent falls, Ptosis |
OMIM:618197 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxis... |
OMIM:613454 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Hypothyroidism, Spasticity, Dystonia |
OMIM:613970 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Mcleod Syndrome |
|
Atrial fibrillation, Chorea, Dilated cardiomyopathy, Depression, Cardiomyopathy, Compulsive behav... |
OMIM:300842 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Rigidity, Depression, Frontal... |
ORPHA:2828 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Limb hypertonia |
OMIM:614498 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hyperinsulinemia, Syncope, Agitation, Palpitations, Type I diabetes mellitus, Hyperi... |
ORPHA:276575 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behav... |
OMIM:301069 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia, Intrauterine growth retardation |
OMIM:619048 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Agitation, Palpitations, Type I diabet... |
ORPHA:276580 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Poor motor coordination, Parkinsonism, Depression, Clumsiness, Poor fine motor coord... |
ORPHA:79264 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Parkinsonism, Aggressi... |
OMIM:200150 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Spasticity, Bradycardia, Dystonia, Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:614702 |
D-Glyceric Aciduria |
|
Tongue thrusting, Spastic tetraplegia, Opisthotonus, Growth delay, Myoclonus, Bradycardia, Spasti... |
OMIM:220120 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:98933 |
3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Aggressive behavior, Choreoathetosis, Hypertonia, Long eyelashes, Spasticity |
OMIM:617698 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Testicular atrophy, Diabetes insipidus, Tremor, Growth delay, Cardiomy... |
OMIM:222300 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tachycardia, Epicanthus, Hypergonadotropic hypogonadism, Tremor, Hy... |
OMIM:619737 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Ataxia, Abnormal location of the eyebrow, Almond-shaped palpebral fissure, Repetitive... |
ORPHA:522077 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Myocardial infarction, Trem... |
ORPHA:457240 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Chorea, Hypertensive crisis |
OMIM:301080 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... |
OMIM:302800 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Speech apraxia, Broad-based gait, Dystonia, Short stature, Aggressive beha... |
OMIM:300352 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Spinocerebellar Ataxia 36 |
|
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, Hypertonia, Tongue fa... |
OMIM:614153 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Congenital ptosis, Gait disturbance, Difficulty walking, Depression |
ORPHA:352470 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Epicanthus, Short stature, Highly arched eyebrow, Aggressive... |
OMIM:618342 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... |
OMIM:614298 |
Pontocerebellar Hypoplasia, Type 2B |
|
Dystonia, Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Dysphagia, Spas... |
OMIM:612389 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Short attention span, Diabetes mellitus, Repetitive compulsive behavior, Hypothyroidism, Oromotor... |
ORPHA:391372 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Fatigable weakness of bulbar muscles, Neuromuscular dysphagia, Clumsiness, Bradyki... |
ORPHA:171439 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Short stature, Tremor, Progressive psychomotor deterioration, Dy... |
ORPHA:1170 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Short stature, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia, Hypogonadism, Arr... |
ORPHA:254913 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Short stature |
ORPHA:1368 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Telecanthus, Short stature, Spastic tetraplegia, Spasticity, Ptosis |
OMIM:616681 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Epicanthus, Ataxia, Mild postnatal growth retardation, Abnormal temper tantrums, A... |
ORPHA:530983 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S... |
OMIM:617964 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Growth delay, Self-injurious behavior, Hypertonia, Hemiplegia, At... |
ORPHA:79254 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function, Hypoten... |
ORPHA:178509 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Epicanthus, Oral-pharyngeal dysphagia, Tremor, Postnatal growth retardation, Synophrys, Spastic d... |
ORPHA:480907 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Choreoathetosis, Dysphagia, Spasticity, Ptosis |
OMIM:617664 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Hypokinesia, Difficulty walking, Dysphagia |
ORPHA:171433 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia,... |
OMIM:619724 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Apraxia, Ataxia, Confusion, Parkinsonism, Oculomotor apraxia, Dementia, Agitation, Semantic demen... |
ORPHA:1020 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy, Ptosis |
OMIM:312170 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Leigh Syndrome |
|
Dystonia, Ataxia, Involuntary movements, Progressive neurologic deterioration, Congestive heart f... |
ORPHA:506 |
Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Cognitive impair... |
ORPHA:3124 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho... |
ORPHA:94093 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Epicanthus, Telecanthus, Sparse eyebrow, Self-injurious behavior, Dystonia, Recurrent hand flappi... |
OMIM:617268 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Gait disturbance, Ptosis |
ORPHA:1875 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... |
ORPHA:98808 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Short stature, Aggressive behavior, Shyness, Tremor, Growth delay, Self-injurio... |
OMIM:300978 |
Muscular Hypertonia, Lethal |
|
Hypertonia, Hypokinesia |
OMIM:254120 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Falls, Ptosis |
OMIM:616326 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Unilateral ptosis, Hyperactivity |
OMIM:300928 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Chorea, Opisthotonus, Extrapyramidal dyskinesia, Dysphagia |
OMIM:277470 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Sparse eyebrow, Chorea, Hemiparesis, Dystonia, Long palpebral fissure, Hypothyroidism |
OMIM:618829 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Diabetes mellitus, Ataxia, Spastic paraplegia, Hemiparesis, Dementia, Gait disturbance, Hypogonad... |
ORPHA:98673 |
Chromosome 18Q Deletion Syndrome |
|
Epicanthus, Broad-based gait, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:601808 |
Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Short stature, Inability to walk, Synophrys, Upper motor neuron dysfunction, Tetraple... |
OMIM:619641 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Hoffmann sign, Dysmetria, Male hypogonadism, Hyperactivity,... |
ORPHA:139396 |
Non-Distal Deletion 10Q |
|
Epicanthus, Ataxia, Synophrys, Upslanted palpebral fissure, Gait disturbance, Cognitive impairmen... |
ORPHA:1581 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsulinemia, Syncope, ... |
ORPHA:324575 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Fatigable weakness, Ptosis |
OMIM:610542 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Hypertonia, Ataxia, Ptosis |
OMIM:615917 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Short attention span, Lower limb spasticity, Ataxia, Babinski sign,... |
ORPHA:88644 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Agitation, Palpitations, Hyperinsulinemic hypoglycemia, Excessive insulin r... |
ORPHA:276556 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Frequent falls |
OMIM:619054 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Difficulty walking, Dystonia, Neonatal death, Downslanted palpebral fissures, ... |
OMIM:611890 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Bradyc... |
ORPHA:226313 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Cardiom... |
OMIM:105210 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Ataxia, Short stature, Primary adrenal insufficiency, Card... |
OMIM:530000 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Dysphagia,... |
OMIM:254210 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Jaw claudication, Vocal cord paralysis, Depression, Synco... |
ORPHA:221098 |
Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Long eyelashes, Co... |
OMIM:300590 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Spasticity, Pt... |
OMIM:610743 |
48,Xxyy Syndrome |
|
Epicanthus, Ataxia, Hypergonadotropic hypogonadism, Tremor, Depression, Upslanted palpebral fissu... |
ORPHA:10 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Unsteady gait, Type II diabetes mellitus, Ptosis |
OMIM:520000 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Fatigable weakness of bulbar muscles, Paraplegia, Difficulty walking, ... |
ORPHA:98897 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Myoclonus, Bradycardia, Opisthotonus |
OMIM:619814 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Intrauterine growth retardation, Spasticity, Hypertonia, Hypokinesia |
OMIM:609060 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Hypertoni... |
OMIM:308350 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Ptosis, Dysphagia |
OMIM:617732 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hyper... |
ORPHA:43116 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Intrauterine growth retardation, Short stature, Thick eyebrow, Ptosis |
OMIM:606242 |
Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Babinski sign, Spastic tetraplegia, Irritability, Hypertonia, Dystonia, Ptosis |
OMIM:619071 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Ptosis, Ataxia, Epicanthus, Incoordination, Aggressive behavior, Sho... |
ORPHA:369891 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Hypokinesia |
OMIM:619063 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Ataxia, Impulsivity, Aggressive behavior, Highly arched eyebrow, Long eyebrows, Synop... |
OMIM:619312 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonus, Lethargy, Spasticity, Ptosis |
OMIM:618225 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Dysphagia,... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 10 |
|
Waddling gait, Fatigable weakness, Ptosis |
OMIM:254300 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Hypertension, Deme... |
ORPHA:75567 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ptosis, Dementia, Dysphagia |
OMIM:617070 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pica, Clumsiness, Recurrent hand flapping, Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub... |
ORPHA:163681 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Congenital bila... |
ORPHA:73272 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:102 |
Leukodystrophy, Hypomyelinating, 2 |
|
Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Cognitive impairment... |
OMIM:608804 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
2p15-16.1 microdeletion syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
DECIPHER:70 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Inability to walk, Chorea, Right bundle branch block, Reduced left ventricular ejec... |
ORPHA:268 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Gait ataxia... |
ORPHA:70595 |
Developmental And Epileptic Encephalopathy 29 |
|
Short stature, Chorea, Blepharospasm, Limb dystonia, Intrauterine growth retardation, Spasticity |
OMIM:616339 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Card... |
OMIM:617710 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... |
OMIM:619580 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Te... |
OMIM:616586 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Epicanthus, Aggressive behavior, Postnatal growth retardatio... |
OMIM:620242 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Short stature, Tremor, Abnormal pyramidal sign, ... |
OMIM:614381 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Short stature, Tremor, Inability to walk, Chorea... |
OMIM:615356 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Spastic tetraparesis, Highly arched eyebrow, Growth delay, Spasticity, Ptosis |
OMIM:616154 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Short stature, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Impaired... |
ORPHA:1942 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Birk-Landau-Perez Syndrome |
|
Limb ataxia, Choreoathetosis, Hypertension, Upslanted palpebral fissure, Limb hypertonia, Long ey... |
OMIM:617595 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Hypergonadotropic hypogonadism, Parkinsonism, Impaired distal proprioception, Rig... |
OMIM:157640 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... |
ORPHA:157850 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Tetraplegia, Opisthotonus, Growth delay, Hypertonia, Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, Horizontal eyebrow, Ptosis |
OMIM:619311 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
German Syndrome |
|
Abnormal eyebrow morphology, Short stature, Synophrys, Dysphagia, Downslanted palpebral fissures,... |
ORPHA:2077 |
Legius Syndrome |
|
Epicanthus, Supravalvar pulmonary stenosis, Attention deficit hyperactivity disorder, Downslanted... |
OMIM:611431 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Short stature, Aggressive behavior, Tremor, Gait ataxia, Hypogonadism, Delayed pub... |
OMIM:300354 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level |
ORPHA:441 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Hemiplegia |
OMIM:272300 |
Joubert Syndrome 26 |
|
Short stature, Decreased response to growth hormone stimulation test, Central hypothyroidism, Pan... |
OMIM:616784 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Spasticity, Ataxia, Gait disturbance, Ptosis |
OMIM:125250 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Hematochezia, Hypogonadism, Type II diabetes mellitus, Mental deterio... |
ORPHA:79095 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth retardatio... |
ORPHA:453533 |
Spontaneous Periodic Hypothermia |
|
Tremor, Arrhythmia, Ataxia, Gait disturbance |
ORPHA:29822 |
Encephalitis Lethargica |
|
Parkinsonism, Tremor, Bradycardia, Mental deterioration, Lethargy |
ORPHA:83600 |
2Q23.1 Microduplication Syndrome |
|
Broad-based gait, Highly arched eyebrow, Aggressive behavior, Bilateral ptosis, Poor coordination... |
ORPHA:313947 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Ataxia, Hypoesth... |
OMIM:607459 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Dysphagia, Lethargy, Hypertrophic cardiomyopathy, Ptosis |
OMIM:613561 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Tubulinopathy-Associated Dysgyria |
|
Oculomotor apraxia, Bilateral ptosis, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:467166 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ptosis, Ataxia, Babinski sign, Dysmetria, Tongue fasciculations, Intention tremor |
OMIM:618170 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Agitation, Ataxia, Ptosis |
OMIM:619046 |
4Q21 Microdeletion Syndrome |
|
Tremor, Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Intrauterine growth ret... |
ORPHA:238750 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Short stature, Inability to walk, Athetosis, Irritabi... |
OMIM:612073 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosi... |
ORPHA:391428 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Hypotension, Anorexia |
ORPHA:99825 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Fatigable weakness, Ptosis, Dysphagia |
OMIM:616325 |
Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Epicanthus, Hypokinesia, Spasticity |
OMIM:616211 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... |
ORPHA:64753 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Compulsive behaviors, Bilateral ptosis, Attention deficit hyperactivity ... |
OMIM:620021 |
Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Ptosis, Prolonged miniature endplate currents, Dysphagia |
OMIM:603034 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Distal sensory im... |
OMIM:617675 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dys... |
OMIM:168600 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Ptosis, Dysphagia |
OMIM:605637 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hyperinsulinemia, Bradycardia, Dysphagia |
OMIM:613327 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Trem... |
ORPHA:72 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... |
OMIM:619574 |
Cluster Headache, Familial |
|
Agitation, Ptosis |
OMIM:119915 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Ptosis, Postural tremor, Dysphagia |
OMIM:619790 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Shyness, Aggressive beha... |
ORPHA:449291 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Confusion, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotensi... |
ORPHA:319213 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Ataxia, Gait ataxia, Depression, Dysphagia, Ptosis |
OMIM:613077 |
Acitretin/Etretinate Embryopathy |
|
Epicanthus, Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block,... |
ORPHA:40366 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Epicanthus, Aggressive behavior, Tremor, Synophrys, Upslanted palpebral fissu... |
OMIM:617061 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Leigh Syndrome |
|
Ataxia, Dystonia, Emotional lability, Spasticity, Ptosis |
OMIM:256000 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Babinski sign, Sinus bradycardia, Ankle clonus, Dystonia, Type I diabetes ... |
OMIM:618397 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ptosis, Dysphagia |
OMIM:617069 |
Proximal Xq28 Duplication Syndrome |
|
Epicanthus, Short stature, Gait disturbance, Blepharophimosis, Ptosis |
ORPHA:1762 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness, Diff... |
ORPHA:353327 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity, Self-mutilation |
OMIM:308950 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Cardiomyopathy, Steppage gait, Fasci... |
ORPHA:521411 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Neurofibromatosis-Noonan Syndrome |
|
Short stature, Pulmonic stenosis, Dysphagia, Hypertrophic cardiomyopathy, Downslanted palpebral f... |
ORPHA:638 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Nail-biting, Hyperactivity, Tachycardia, Epicanthus, Thick eyebrow, Decreased ... |
ORPHA:485405 |
Myasthenic Syndrome, Congenital, 22 |
|
Waddling gait, Short stature, Decreased response to growth hormone stimulation test, Ptosis |
OMIM:616224 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Abnormality of thyroid physiology, Short stature, Babinski sign, Abnormal pyramidal sign,... |
ORPHA:59 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... |
ORPHA:206594 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Abnormality of the endocrine system, Inability to walk, Paraparesis, Slu... |
ORPHA:2356 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Lagophthalmos, Bilateral ptosis, Chorea, Inability to walk, Oculomotor apraxia, Athetosis, Hyperk... |
ORPHA:404454 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Hypokinesia |
OMIM:610498 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Cimdag Syndrome |
|
Ataxia, Chorea, Hypogonadism, Dystonia, Spasticity |
OMIM:619273 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Ptosis, Prolonged miniature endplate currents, Dysphagia |
OMIM:601462 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Internal hemor... |
ORPHA:99827 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Cardiomyopathy, Dementia,... |
ORPHA:329478 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Short stature, Tremor, Emotional lability, Irritability, Hypogonadism, Lethargy, Decrease... |
OMIM:201100 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Epicanthus, Torticollis, Postnatal growth retardation, Bila... |
ORPHA:300570 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Diabetes mellitus, Ataxia, Bilateral ptosis, Spastic paraplegia, Cardiomyopathy |
ORPHA:1215 |
Proximal Spinal Muscular Atrophy |
|
Inability to walk, Dysphagia, Tongue fasciculations, Bradycardia, Difficulty walking |
ORPHA:70 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Lethargy, Arr... |
ORPHA:99745 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p... |
ORPHA:845 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Mental deterioration |
OMIM:616672 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment, Dysphagia |
OMIM:607734 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Agitation, Pancreati... |
ORPHA:263455 |
Paroxysmal Hemicrania |
|
Restless legs, Diabetes mellitus, Palpebral edema, Hypertension, Conjunctival hyperemia, Ptosis |
ORPHA:157835 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal pyramidal sign, Distal sensory imp... |
ORPHA:254930 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Growth delay, Dystonia |
OMIM:614932 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthoton... |
OMIM:619653 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Falls, Depression, Gait disturbance, Ptosis |
OMIM:615156 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ptosis, Decreased miniature endplate potentials, Dysphagia |
OMIM:608930 |
Ring Chromosome 1 Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Cognitive impairment, Ptosis |
ORPHA:1437 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyp... |
OMIM:618056 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Impaired social i... |
OMIM:610042 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Fatigable weakness, Gait disturbance, Ptosis |
ORPHA:424107 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Narrow palpebral fissure, Delayed puberty, Blepharophimosis, Ptosis |
OMIM:301900 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
49,Xxxxy Syndrome |
|
Epicanthus, Short stature, Shyness, Pulmonary embolism, Tremor, Upslanted palpebral fissure, Irri... |
ORPHA:96264 |
Alg11-Cdg |
|
Ataxia, Opisthotonus, Hypertonia, Impaired social interactions, Hypokinesia, Limb hypertonia |
ORPHA:280071 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Choreoathetosis, Cardiomyopathy, Dystonia, Lethargy |
ORPHA:79312 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Action tremor... |
OMIM:615273 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Ptosis, Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Narrow pa... |
OMIM:619293 |
Hypertrichosis Cubiti |
|
Severe short stature, Abnormal nasolacrimal system morphology, Rhizomelia, Abnormal eyelid morpho... |
ORPHA:2220 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Typical Nemaline Myopathy |
|
Waddling gait, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal limb mu... |
ORPHA:171436 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Highly arched eyebrow, Tremor, Downslanted palpebral fissures, Ptosis |
ORPHA:457365 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Cardiomyopathy, Loss of ambulation, Ptosis |
OMIM:619566 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Synophrys, Hypertonia, Cognitive impairment, Downslanted palpebral fissures, Ptosis |
ORPHA:1390 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Neuromuscular dysphagia, Intracranial h... |
ORPHA:449285 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... |
ORPHA:226307 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cog... |
OMIM:146500 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Tremor, Compulsive behaviors, Attention deficit ... |
ORPHA:370079 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Epicanthus, Polyphagia, Ptosis |
ORPHA:163690 |
Trismus-Pseudocamptodactyly Syndrome |
|
Short stature, Ptosis |
ORPHA:3377 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Bilateral ptosis, Dysphagia, Difficulty walking, Cognitive impairment, Motor deterioration |
ORPHA:254875 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Congestive heart failure, Cardiomyopathy, Arrhythmia, Ptosis |
OMIM:266500 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Anterior pituitary hypoplasia, Short stature, Postnatal gr... |
OMIM:616113 |
Sheehan Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:91355 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Blepharophimosis, Hyperactivity, Telecanthus, Ptosis |
ORPHA:397973 |
Retinal Dystrophy With Leukodystrophy |
|
Waddling gait, Truncal titubation, Bilateral ptosis, Dysmetria, Falls |
OMIM:618863 |
Congenital Myopathy 19 |
|
Ptosis, Gait disturbance, Dysphagia |
OMIM:618578 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bilateral ptosis, Right bundle branch block, Dysphagia, Loss of ambulation, Frequent falls |
ORPHA:254361 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Synophrys, Upslanted palpebral fissure, Impaired social interactions, Ptosis |
OMIM:616083 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Epicanthus, Short stature, Delayed puberty, Ptosis |
ORPHA:1825 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Tremor, Hypertension, Hypotension, Dystonia |
ORPHA:330021 |
48,Xxxy Syndrome |
|
Epicanthus, Pulmonary embolism, Tremor, Upslanted palpebral fissure, Irritability, Hypogonadism, ... |
ORPHA:96263 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Epicanthus, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Upslanted pal... |
OMIM:619680 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Limb hypertonia, Dystonia, Dysphagia |
OMIM:618247 |
Joubert Syndrome 35 |
|
Telecanthus, Ataxia, Highly arched eyebrow, Synophrys, Oculomotor apraxia, Ptosis |
OMIM:618161 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dysphagia, Dystonia, Mental deterioration, Spasticity |
OMIM:304700 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Tremor, Depression, Hyperkinetic movements, Gait disturbance, Spasticity |
OMIM:300957 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Joubert Syndrome 14 |
|
Epicanthus, Ataxia, Highly arched eyebrow, Intracranial hemorrhage, Hypertension, Irritability, G... |
OMIM:614424 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Impaired vibratory sensation, Ptosis, Impaired proprioception, Gait ataxia |
OMIM:243180 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Lower limb hypert... |
ORPHA:2524 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Synophrys, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive manner... |
OMIM:619777 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... |
OMIM:616505 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Myoclonus, Ptosis |
OMIM:610539 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ataxia, Cardiac conduction abnormality, Chorea, Dilated cardiomyopathy, Spasticity, Gai... |
ORPHA:255210 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Infant Botulism |
|
Cerebral palsy, Cardiac arrest, Anorexia, Hypertension, Keratoconjunctivitis sicca, Hypotension, ... |
ORPHA:178478 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Frequent falls, Ataxia, Dystonia |
OMIM:618416 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity |
OMIM:612233 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:1373 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Sparse eyebrow, Epiblepharon, Tremor, Tip-toe gait, Attention deficit... |
OMIM:617557 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Exaggerated startle response, Rigidity, Opisthotonus, Depression,... |
OMIM:184850 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Ataxia, Distal sensory impairment, Choreoathetosis, Telangiectasia, Conjunctivitis, Me... |
OMIM:278700 |
Coach Syndrome 3 |
|
Oculomotor apraxia, Ataxia, Ptosis |
OMIM:619113 |
X-Linked Intellectual Disability, Schimke Type |
|
Choreoathetosis, Spasticity, Short stature |
ORPHA:85285 |
Aarskog-Scott Syndrome |
|
Epicanthus, Short stature, Congestive heart failure, Attention deficit hyperactivity disorder, Co... |
ORPHA:915 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Hyperactivity, Broad-based gait, Short stature, Aggressive behavior, Tremor, Synophry... |
ORPHA:85293 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Fatigable weakness, Ptosis, Dysphagia |
OMIM:608931 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Holoprosencephaly |
|
Epicanthus, Diabetes mellitus, Highly arched eyebrow, Anterior hypopituitarism, Chorea, Synophrys... |
ORPHA:2162 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Distal sensory impairment, Dysphagia, Facial paralysis, Ptosis |
OMIM:613559 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Aggressive behavior, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Gait dis... |
OMIM:620098 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Growth delay, Hypertonia, Bradycardia, Dysphagia, Neonatal death |
OMIM:617248 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Aggressive behavior, Tremor, Synophrys, Congenital ptosis, Gait ataxia, Compulsive be... |
ORPHA:476126 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable ... |
ORPHA:199351 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Lower limb spasticity, Epicanthus, Telecanthus, Sparse eyebrow, Growth dela... |
ORPHA:261349 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Elevated circulating growth hormone... |
ORPHA:97287 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Telecanthus, Epicanthus, Short stature, Postnatal growth retardation, Hypogonadism, Attention def... |
OMIM:612513 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Epicanthus, Inability to walk, Hypertonia, Intrauterine growth retardation, Spasticity, Downslant... |
OMIM:616801 |
Snijders Blok-Fisher Syndrome |
|
Choreoathetosis, Epicanthus, Spasticity, Opisthotonus |
OMIM:618604 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Attention deficit hyperactivity disorder, Ptosis |
OMIM:615433 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Epicanthus, Broad-based gait, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Bruxism, ... |
OMIM:616351 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... |
OMIM:616812 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Paralysis, Ventricular tachycardia, Growth delay, Pa... |
OMIM:263800 |
Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Vocal cord paralysis, Dysphagia, Clumsiness, Ankle clonus, Gait imbalance, Tongue fascicu... |
OMIM:211530 |
Ververi-Brady Syndrome |
|
Ptosis, Short stature, Unsteady gait, Upslanted palpebral fissure, Intrauterine growth retardatio... |
OMIM:617982 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Short stature, Ptosis |
OMIM:300580 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Melena, Palpitations, Hypotension, ... |
ORPHA:100080 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Abnormal repetitive mannerisms, Growth delay, Compulsive behaviors, Attention deficit... |
ORPHA:1727 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Tetraplegia, Bradycardia |
OMIM:610768 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulation, Lethargy, Spas... |
OMIM:615838 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Confusion, Reduced circulating prolactin c... |
ORPHA:79443 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Waddling gait, Aggressive behavior, Inability to walk, Hand tremor, Narrow palpebral fissure, Ina... |
ORPHA:457212 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Impaired distal tactile sensation, Me... |
OMIM:182410 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Epicanthus, Telecanthus, Thick ey... |
ORPHA:319182 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio... |
OMIM:261990 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Tremor, Ma... |
ORPHA:247585 |
Wagro Syndrome |
|
Aggressive behavior, Hypertension, Agitation, Downslanted palpebral fissures, Compulsive behavior... |
OMIM:612469 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Synophrys, Upslanted palpebral fissure, Compulsive behaviors, Downslanted palpebral fissures, Ptosis |
OMIM:615761 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Ataxia, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, M... |
OMIM:278730 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Lower limb spasticity, Sparse eyelashes, Aggressive behavior, Attention deficit h... |
OMIM:619075 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations, Cognitive impairment, Ptosis |
OMIM:619733 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Head titubation, Dysmetria, Ankle clonus, Dysphagia, Oculomotor apraxia, Ptosis |
OMIM:614688 |
Cornelia De Lange Syndrome 5 |
|
Telecanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Long ... |
OMIM:300882 |
Schuurs-Hoeijmakers Syndrome |
|
Speech apraxia, Highly arched eyebrow, Aggressive behavior, Synophrys, Long eyelashes, Downslante... |
OMIM:615009 |
Li-Campeau Syndrome |
|
Telecanthus, Short stature, Downslanted palpebral fissures, Hypothyroidism, Thick eyebrow, Ptosis |
OMIM:619189 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Upslan... |
OMIM:613792 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Postnatal growth retardation, Self-injurious behavior, Attention deficit hyperactivit... |
ORPHA:494344 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Depression, Cerebral... |
ORPHA:397 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Confusion, Anorexia, Aggressive behavior, Dysesthesia, Hypovole... |
ORPHA:99826 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Fatigable weakness, Ptosis |
OMIM:616228 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Confusion, Addictive alcohol use, Hypotension, Increased circulating pr... |
ORPHA:36238 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98853 |
Hyperlysinemia |
|
Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Short stature, Spa... |
ORPHA:2203 |
Necrotizing Enterocolitis |
|
Shock, Lethargy, Bradycardia, Hypotension |
ORPHA:391673 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Hyperthyroidism, Short stature, Tremor, Dysmetria, Depression, Growt... |
ORPHA:502423 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Noonan Syndrome 11 |
|
Short stature, Pulmonic stenosis, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Pt... |
OMIM:618499 |
Spondyloenchondrodysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Chorea,... |
ORPHA:1855 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Epicanthus, Dystonia, Ataxia, Choreoathetosis, Growth delay, Arrhythmia, Dysphagia, Hypertrophic ... |
OMIM:615471 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Anorexia, Myocarditis, ... |
ORPHA:3452 |
Fazio-Londe Disease |
|
Ptosis, Dysphagia |
OMIM:211500 |
Mercaptolactate-Cysteine Disulfiduria |
|
Hypokinesia |
OMIM:249650 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxia, Abnormality of the h... |
ORPHA:220497 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Inability to walk, Limb tremor, Ptosis |
OMIM:218000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis, Lethargy |
ORPHA:27 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Aggressive behavior, Unsteady gait, Gait ataxia, Downslanted palpebral fissures, Ptosis |
OMIM:618109 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Voca... |
ORPHA:98863 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Short stature, Progressive neurologic det... |
OMIM:614947 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100082 |
Pontocerebellar Hypoplasia, Type 16 |
|
Spastic tetraplegia, Limb hypertonia, Abnormality of extrapyramidal motor function, Dysphagia, Pt... |
OMIM:619527 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord... |
ORPHA:94080 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Sparse eyebrow, Inability to walk, T... |
OMIM:617988 |
Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:277720 |
Joubert Syndrome |
|
Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxia, Abnormality of the h... |
ORPHA:475 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations, Dysphagia |
OMIM:313200 |
Teebi Hypertelorism Syndrome 2 |
|
Thick eyebrow, Upper eyelid coloboma, Attention deficit hyperactivity disorder, Ptosis |
OMIM:619736 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Irritability, Hypertonia, Long eyelashes, Spasticity, Ptosis |
OMIM:619076 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Ataxia, Myoclonus, Ptosis |
OMIM:560000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Ptosis |
ORPHA:352447 |
Joubert Syndrome 3 |
|
Epicanthus, Ataxia, Highly arched eyebrow, Oculomotor apraxia, Ptosis |
OMIM:608629 |
Agel Amyloidosis |
|
Deficit in phonologic short-term memory, Ataxia, Bilateral ptosis, Depression, Cardiomyopathy, Ke... |
ORPHA:85448 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Short stature, Ptosis |
ORPHA:1933 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Postnatal growth retardation, Hypertension, Pulmonary arterial hypertension, Hypok... |
OMIM:613320 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Wound Botulism |
|
Cerebral palsy, Cardiac arrest, Diaphragmatic paralysis, Dysphagia, Ptosis |
ORPHA:178475 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Aggressive behavior, Upslanted palpebral fissure, Growth delay, Attention deficit hyp... |
OMIM:618659 |
Autism, Susceptibility To, X-Linked 6 |
|
Ptosis |
OMIM:300872 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Short stature, Aggressive behavior, Babinski sign, Myoclonus, Eversion of lat... |
ORPHA:364028 |
Perlman Syndrome |
|
Epicanthus, Hyperinsulinemia, Ptosis |
ORPHA:2849 |
Coffin-Siris Syndrome 2 |
|
Hyperactivity, Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis |
OMIM:614607 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Retinal hemorrhage, Growth delay, Hypertension, Bradyc... |
OMIM:614653 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Oculomotor apraxia, Ptosis, Dysphagia |
OMIM:618198 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad... |
ORPHA:892 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Elevated circula... |
OMIM:610978 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Dementia, Ataxia, Short stature |
OMIM:278760 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Short stature, Gait ataxia, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
OMIM:268850 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... |
ORPHA:556037 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Arthrogryposis, Distal, Type 2B3 |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:618436 |
Reni Syndrome |
|
Ataxia, Adrenal insufficiency, Hypogonadism, Mental deterioration, Hypothyroidism, Ptosis |
OMIM:617575 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Female hypogonadism, Short stature, Dysto... |
OMIM:208900 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyopathy, Growth delay,... |
ORPHA:445038 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Right hemiplegia, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Dysphagia, Loss of a... |
OMIM:607426 |
Houge-Janssens Syndrome 1 |
|
Ptosis, Intrauterine growth retardation, Downslanted palpebral fissures, Gait ataxia |
OMIM:616355 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea... |
ORPHA:31826 |
Coach Syndrome 1 |
|
Ataxia, Portal hypertension, Growth delay, Hypertension, Dystonia, Oculomotor apraxia, Spasticity... |
OMIM:216360 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Depression, Impaired social interactions, Attention deficit hyperactivity... |
OMIM:618798 |
Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Fatigable weakness of skeletal muscles, Ptosis |
OMIM:616324 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short stature, Inability to walk, Dysphagia, Oculomotor apraxia, Spasticity, Ptosis |
OMIM:301041 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Tr... |
ORPHA:478 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Short stature, Elevated circulating luteinizing hormone level, Elevated circu... |
OMIM:305400 |
Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Fatigable weakness, Ptosis |
OMIM:616322 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Ataxia, Severe short stature, Babinski sign, Scissor gait, Telangiectasia, Choreoathet... |
OMIM:278800 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Somatic sensory dysfunction, Ataxia, Adrenal insufficiency, Dysphagia, S... |
OMIM:615510 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Depression, Hypothyroidism, Ptosis |
ORPHA:663 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Tachycardia, Hyperthyroidism, Increas... |
OMIM:609152 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia, Arrhythmia, Ptosis |
ORPHA:228371 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the extraocular mus... |
ORPHA:298 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... |
ORPHA:556030 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Dystonia, Choreoathetosis, Impaired social interactions, Attention deficit hypera... |
ORPHA:261197 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxia, Abnormality of the h... |
ORPHA:220493 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Ptosis |
ORPHA:254509 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Ptosis |
ORPHA:2229 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ptosis |
OMIM:609283 |
Frontoocular Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Pulmonic stenosis, Blepharophimosis, Short palpebral fis... |
OMIM:605321 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Distal Duplication 15Q |
|
Hypertonia, Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral fissures, Pt... |
ORPHA:1707 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Ptosis, Intrauterine growth retardation, Dysphagia |
OMIM:618958 |
Bohring-Opitz Syndrome |
|
Short stature, Inability to walk, Synophrys, Lower limb hypertonia, Bradycardia, Intrauterine gro... |
ORPHA:97297 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Rhizomelia, Tremor, Congestive heart failure, Opisthotonus, Choreoathetosis, Growth delay... |
OMIM:616271 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Thick eyebrow, Lower limb spasticity, Ataxia, Tremor, Inability to walk, Ag... |
OMIM:619229 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Fatigable weakness of bulbar muscles, Bilateral ptosis, Fatigable weakness of swal... |
ORPHA:254854 |
Lesch-Nyhan Syndrome |
|
Dystonia, Short stature, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of e... |
OMIM:300322 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2958 |
Monosomy 18P |
|
Epicanthus, Generalized dystonia, Short stature, Hypertension, Hypothyroidism, Ptosis |
ORPHA:1598 |
Char Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Ptosis |
OMIM:169100 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... |
ORPHA:99956 |
Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Aggressive behavior, Almond-shaped palpebral fissure, Head-ban... |
OMIM:619087 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Increased circulating ... |
ORPHA:100075 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopath... |
ORPHA:572798 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Broad-based gait, Palpebral edema, Aggressive behavior, Impaired pain sensation, Tong... |
OMIM:606232 |
Refsum Disease |
|
Ataxia, Heart block, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Cardiomyopathy, Ptosis |
ORPHA:773 |
Adult Intestinal Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Ptosis |
ORPHA:178487 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Short stature, Arrhythmia, Pulmonic stenosis, Aortic valve stenosis, Ptosis |
ORPHA:228410 |
Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Ataxia, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Ton... |
OMIM:614969 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Joubert Syndrome 7 |
|
Oculomotor apraxia, Ataxia, Ptosis |
OMIM:611560 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Bilateral ptosis, Prolonged miniature endplate currents, Abnormal synaptic transmi... |
ORPHA:98915 |
Prieto Syndrome |
|
Epicanthus, Ptosis |
OMIM:309610 |
Warburg Micro Syndrome 1 |
|
Short stature, Spastic diplegia, Ptosis |
OMIM:600118 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Trisomy 5P |
|
Short stature, Ptosis |
ORPHA:1742 |
Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Narrow palpebral fissure, Elevated circulating parathyroid hormone ... |
ORPHA:439822 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Intrauterine growth retardation, Ptosis |
OMIM:255200 |
Meningococcal Meningitis |
|
Shock, Anorexia, Irritability, Paresthesia, Hypotension, Lethargy |
ORPHA:33475 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Warburg Micro Syndrome 4 |
|
Short stature, Inability to walk, Babinski sign, Spastic tetraplegia, Severe postnatal growth ret... |
OMIM:615663 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Epicanthus, Telecanthus, Short stature, Upslanted palpebral fissure, Tip-toe gait, Compulsive beh... |
OMIM:618050 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Nasolacrimal duct obstruction, Irr... |
ORPHA:783 |
Episodic Ataxia Type 1 |
|
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Ptosis, Dilated cardiomyopathy, Dysphagia |
OMIM:255310 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Intrauterine growth retardation, Dysmetria |
OMIM:615578 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Hemiplegia, Ptosis |
ORPHA:2743 |
Muenke Syndrome |
|
Downslanted palpebral fissures, Attention deficit hyperactivity disorder, Ptosis |
OMIM:602849 |
Ascher Syndrome |
|
Abnormal eyelid morphology, Goiter, Upper eyelid edema, Blepharophimosis, Hypothyroidism, Ptosis |
ORPHA:1253 |
Japanese Encephalitis |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor, Opisthoton... |
ORPHA:79139 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Developmental And Epileptic Encephalopathy 4 |
|
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia |
OMIM:612164 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls, Hypokinesia |
OMIM:149400 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... |
OMIM:620303 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Oral-pharyngeal dysphagia, Tremor, Postnatal growth retardation, Synophrys, Nasolacrimal ... |
OMIM:300966 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Ataxia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity |
ORPHA:702 |
Chromosome 5Q12 Deletion Syndrome |
|
Epicanthus, Postnatal growth retardation, Hypotension, Long palpebral fissure, Ptosis |
OMIM:615668 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Proteus Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis |
OMIM:617186 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:619989 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Tip-toe gait, Dementia, Gait disturbance, Decerebrate r... |
ORPHA:512 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Disproportionate short stature, Pulmonic stenosis, Ptosis |
ORPHA:2868 |
Wilson Disease |
|
Hypoparathyroidism, Limb dystonia, Dystonia, Poor motor coordination, Tremor, Hypoesthesia, Rigid... |
OMIM:277900 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia, Ptosis |
ORPHA:230800 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Fatigable weakness of swallowing muscles, ... |
ORPHA:436271 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Ptosis |
OMIM:615084 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Clonus, Tremor, Cardiogenic shock, Dilated cardiom... |
OMIM:619424 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Hypokinesia |
OMIM:615042 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Tongue fasciculations, Ptosis |
OMIM:301830 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Tremor, Bilateral ptosis, Dilated cardiomyopathy, Difficu... |
OMIM:164310 |
Progressive Hemifacial Atrophy |
|
Ptosis |
ORPHA:1214 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Oculomotor apraxia, Short palpebral fissure, Ptosis |
OMIM:617563 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Short stature, Ptosis |
ORPHA:2013 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Ptosis, Dysphagia |
OMIM:608423 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Short stature, Multiple pterygia, Abnormal eyelid morphology, Antecubita... |
ORPHA:2990 |
Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis, Ptosis |
OMIM:162100 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Blepharophimosis, Telecanthus, Ptosis |
OMIM:606772 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Heart murmur, Neuroendocrine neoplasm, Palpitations, Facial ... |
ORPHA:100085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Brady... |
OMIM:618775 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Hypertension, Agitation, Hypotension, Extrapyramidal dyskinesia, Oral aversion,... |
ORPHA:134 |
Coffin-Siris Syndrome 5 |
|
Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis |
OMIM:616938 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge... |
ORPHA:29072 |
Mcdonough Syndrome |
|
Synophrys, Short stature, Short palpebral fissure, Ptosis |
ORPHA:2471 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... |
ORPHA:273 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Cardiomyopathy, Reduced left ventricular ejection fraction, Cognitive impairme... |
ORPHA:258 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Epicanthus, Broad-based gait, Aggressive behavior, Tongue thrusti... |
ORPHA:369950 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Extrapyramidal muscular rigidity, Short stature, Dystonia, Raynaud phenomenon,... |
ORPHA:51 |
Noonan Syndrome 5 |
|
Epicanthus, Short stature, Sparse eyebrow, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyop... |
OMIM:611553 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Highly arched e... |
OMIM:213980 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Fatigable weakness, Ptosis |
OMIM:616313 |
Hydroxykynureninuria |
|
Tachycardia, Hypertonia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
Acute Intermittent Porphyria |
|
Restlessness, Tachycardia, Somatic sensory dysfunction, Confusion, Tremor, Depression, Hypertensi... |
ORPHA:79276 |
Juberg-Hayward Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Ptosis |
OMIM:216100 |
Keipert Syndrome |
|
Epicanthus, Short stature, Cognitive impairment, Ptosis |
ORPHA:2662 |
Arthrogryposis, Distal, Type 5 |
|
Epicanthus, Short stature, Hypertonia, Blepharophimosis, Ptosis |
OMIM:108145 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating ... |
OMIM:603373 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Highly arched eyebrow, Portal hypertension, Tremor, Gait disturbance, Oculomotor apraxia,... |
ORPHA:1454 |
Okur-Chung Neurodevelopmental Syndrome |
|
Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Attention deficit hyperactivity disorder, F... |
OMIM:617062 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Decreased response to growth hormone s... |
OMIM:615280 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Ataxia, Dysphagia, Fatigable weakness, Tip-toe gait, Difficulty walking, Choking e... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Ataxia, Dysphagia, Fatigable weakness, Tip-toe gait, Difficulty walking, Choking e... |
ORPHA:590 |
Myopathy, Myofibrillar, 8 |
|
Ptosis, Mitral regurgitation, Frequent falls, Dysphagia |
OMIM:617258 |
Kury-Isidor Syndrome |
|
Growth delay, Downslanted palpebral fissures, Attention deficit hyperactivity disorder, Ptosis |
OMIM:619762 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Short stature, Highly arched eyebrow, Long palpebral fissure, Ptosis |
OMIM:614583 |
Oculopharyngodistal Myopathy 2 |
|
Ptosis |
OMIM:618940 |
Legionnaires Disease |
|
Pericarditis, Ataxia, Anorexia, Myocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Tremor, Growth delay, Hypertension, Arrhythmia, Neonatal death, Intrauterine growth retar... |
OMIM:614052 |
Joubert Syndrome 1 |
|
Hyperactivity, Epicanthus, Ataxia, Hemifacial spasm, Highly arched eyebrow, Aggressive behavior, ... |
OMIM:213300 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Epicanthus, Telecanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Pica, Upslanted pal... |
OMIM:617360 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypertonia, Ptosis |
OMIM:615351 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Retinal telangiectasia, Tremor, Postnatal growth retardation, Abnormal pyr... |
OMIM:612199 |
Microphthalmia, Syndromic 13 |
|
Short stature, Ptosis |
OMIM:300915 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Confusion, Reduced circulating prolactin concentration, Elevated ... |
ORPHA:95613 |
Isolated Complex I Deficiency |
|
Diabetes mellitus, Ataxia, Intrauterine growth retardation, Lethargy, Hypertrophic cardiomyopathy... |
ORPHA:2609 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short attention span, Aggressive behavior, Unsteady gait, Choreoathetosis, Growth delay, Hyperton... |
ORPHA:17 |
Wagr Syndrome |
|
Dysfunction of lateral corticospinal tracts, Short stature, Ptosis |
ORPHA:893 |
Freeman-Sheldon Syndrome |
|
Growth delay, Downslanted palpebral fissures, Short stature, Ptosis |
ORPHA:2053 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Hypertonia, Ptosis |
ORPHA:2617 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Epicanthus, Ptosis |
OMIM:269920 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Babinski sign, Dystonia, Neonatal death, Spasticity, Ptosis |
OMIM:618186 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Hemifacial spasm, Cardiac conduction abno... |
ORPHA:466677 |
Rhyns Syndrome |
|
Hypopituitarism, Ptosis |
ORPHA:140976 |
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Ptosis |
OMIM:258470 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Anorexia, Decr... |
ORPHA:199299 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Short stature, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis |
ORPHA:2057 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Clonus, Hypertonia, Long eyelashes, Dysphagia, Ptosis |
OMIM:617301 |
Mosaic Trisomy 14 |
|
Blepharophimosis, Ptosis |
ORPHA:1703 |
Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Congestive heart failure, Depression, Fatigable weakness, Paresthesia, Hypotensio... |
ORPHA:428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Impaired soc... |
OMIM:309520 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Telecanthus, Torticollis, Inability to walk by childhood/adolescence, Choreoa... |
OMIM:620224 |
Wieacker-Wolff Syndrome |
|
Dystonia, Short stature, Upslanted palpebral fissure, Apraxia, Oculomotor apraxia, Spasticity, Pt... |
OMIM:314580 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Ptosis, Short stature, Aggressive behavior |
OMIM:606220 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Terminal Osseous Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis |
OMIM:300244 |
Sunct Syndrome |
|
Restlessness, Palpebral edema, Agitation, Conjunctival hyperemia, Ptosis |
ORPHA:57145 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sparse eyelashes, Aggressive behavior, Absent eyelashes, Sparse eyebrow, Bilatera... |
ORPHA:544488 |
Miller Fisher Syndrome |
|
Ataxia, Paresthesia, Tetraparesis, Dysphagia, Ptosis |
ORPHA:98919 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Ataxia, Tremor, Postnatal growth retardation, Hypertension, Conjunctivitis... |
ORPHA:90321 |
9Q21.13 Microdeletion Syndrome |
|
Long palpebral fissure, Postnatal growth retardation, Difficulty walking, Ptosis |
ORPHA:531151 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
Myasthenia Gravis |
|
Abnormality of the endocrine system, Thymoma, Fatigable weakness, Dysphagia, Ptosis |
OMIM:254200 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Ptosis |
ORPHA:3454 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis |
ORPHA:330054 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Raynaud phenomenon, Chorea, Vasculitis, Thyroiditis, Depression, Ker... |
ORPHA:289390 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Long palpebral fi... |
OMIM:243310 |
Myasthenia Gravis |
|
Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, P... |
ORPHA:589 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Ptosis |
OMIM:618155 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Broad-based gait, Ataxia, Impaired distal proprioception, Congestiv... |
ORPHA:14 |
Pettigrew Syndrome |
|
Aggressive behavior, Gait ataxia, Choreoathetosis, Self-injurious behavior, Spasticity, Stereotyp... |
OMIM:304340 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Progressive spasticity, Ptosis |
OMIM:619972 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Ophthalmoplegia, External, And Myopia |
|
Ptosis |
OMIM:311000 |
Monosomy 18Q |
|
Epicanthus, Left-to-right shunt, Short stature, Congestive heart failure, Hypothyroidism, Poor co... |
ORPHA:1600 |
Rhyns Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A... |
OMIM:602152 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Ataxia, Highly arched eyebrow, Ptosis |
ORPHA:2318 |
Sclerosteosis |
|
Ptosis |
ORPHA:3152 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Blepharophimosis, Intrauterine growth retardation, Downslanted palpe... |
OMIM:617333 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Salt craving, Decreased circulating cortisol level, Myocardial infarctio... |
ORPHA:95409 |
Joubert Syndrome 8 |
|
Oculomotor apraxia, Hypertonia, Ataxia, Ptosis |
OMIM:612291 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Polyphagia, Pi... |
OMIM:615873 |
Noonan Syndrome 8 |
|
Epicanthus, Short stature, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... |
OMIM:615355 |
Oculopharyngeal Muscular Dystrophy |
|
Ptosis |
ORPHA:270 |
Coffin-Siris Syndrome 3 |
|
Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis |
OMIM:614608 |
Purpura Simplex |
|
Epistaxis, Ptosis |
OMIM:179000 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Hadziselimovic Syndrome |
|
Epicanthus, Short stature, Ptosis |
OMIM:612946 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Tricuspid regurgitation, Highly arched eyebrow, Absent eyel... |
ORPHA:228396 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Anorexia, Spastic hemiparesis, Dilated cardiomyopathy, Myoclonus, Hypoten... |
ORPHA:20 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Hypogonadotropic hypogonadism, Short stature, Upslanted palpebral fissure, Gait imbal... |
OMIM:617159 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:615476 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Short stature, Narrow palpebral fissure, Long eyelashes in irregular rows, Blephar... |
OMIM:255800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge... |
ORPHA:276621 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Short stature, Ptosis |
ORPHA:44 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Synophrys, Self-injurious behavior, Hypertonia, Attention def... |
OMIM:616078 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ptosis, Ataxia, Short stature, Cardiomyopathy, Difficulty walking, Ectropion |
ORPHA:98907 |
Scrub Typhus |
|
Tremor, Myocarditis, Lethargy, Hypotension |
ORPHA:83317 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pt... |
OMIM:314400 |
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
ORPHA:3038 |
Severe Congenital Nemaline Myopathy |
|
Hypokinesia, Dysphagia |
ORPHA:171430 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Congestive heart failure, Xanthelasma, Polydipsia, Diabete... |
ORPHA:35687 |
Koolen-De Vries Syndrome |
|
Overfriendliness, Epicanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis, Hypot... |
ORPHA:96169 |
Craniosynostosis 3 |
|
Ptosis |
OMIM:615314 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Pulmonic s... |
OMIM:616737 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis, Sinus bradycardia |
OMIM:126320 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Ptosis |
OMIM:617468 |
Frontofacionasal Dysplasia |
|
Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... |
ORPHA:1791 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Streak ovary, Duplicated lacrimal punctum, Highly... |
ORPHA:572333 |
Tetrasomy 12P |
|
Telecanthus, Short stature, Sparse eyebrow, Upslanted palpebral fissure, Ptosis |
ORPHA:884 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Lacrimal duct stenosis, Decreased response to growth hormone stimulat... |
ORPHA:506358 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Difficulty walking, Spasticity, Hypothyroidism, Ptosis |
OMIM:251900 |
King-Denborough Syndrome |
|
Bilateral ptosis, Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:619542 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Short stature, Ptosis |
OMIM:616549 |
Emanuel Syndrome |
|
Hooded eyelid, Upslanted palpebral fissure, Growth delay, Hypogonadism, Pulmonic stenosis, Dyspha... |
ORPHA:96170 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Short stature, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis |
OMIM:210745 |
Frias Syndrome |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:609640 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Short stature, Blepharophimosis, Sparse eyebrow, Postnatal growth retardation, ... |
OMIM:613026 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... |
ORPHA:98913 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Aggressive behavior, Sparse eyebrow, Inability to walk, Difficulty walking, Pulmonary... |
ORPHA:464738 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension |
OMIM:264350 |
Distal Duplication 6P |
|
Short stature, Abnormal eyelash morphology, Blepharophimosis, Intrauterine growth retardation, Pt... |
ORPHA:1745 |
Myopathy With Lactic Acidosis, Hereditary |
|
Bilateral ptosis, Frequent falls, Palpitations, Difficulty walking |
OMIM:255125 |
Trisomy 17P |
|
Short stature, Growth delay, Hypertonia, Intrauterine growth retardation, Aortic valve stenosis, ... |
ORPHA:261290 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Synophrys, Intrauterine growth retardation, Ptosis |
ORPHA:1913 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hooded eyelid, Anterior pituitary hypoplasia, Synophrys, Short stature, Highly arched eyebrow, Sp... |
OMIM:619841 |
20Q11.2 Microduplication Syndrome |
|
Short attention span, Epicanthus, Palpebral edema, Growth delay, Abnormal shape of the palpebral ... |
ORPHA:363659 |
Distal Deletion 3P |
|
Telecanthus, Epicanthus, Short stature, Cognitive impairment, Blepharophimosis, Intrauterine grow... |
ORPHA:1620 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Anorexia, Paralysis, Tremor, Depress... |
ORPHA:297 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Sparse eyelashes, Proportionate short stature, Sparse eyebrow, Telangiectasia, Cho... |
OMIM:234100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Irritability, Hypotension, Lethargy, Arrhythmia |
ORPHA:159 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Confusion, Slurre... |
ORPHA:90062 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Congenital adrenal hyperplasia, Decreased circulating aldos... |
ORPHA:90791 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Downslanted palpebral fissures, Frequent falls, Long eyelashes, Ptosis |
OMIM:617523 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:212112 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Almond-shaped palpebral fissure |
OMIM:619603 |
Fetal Alcohol Syndrome |
|
Telecanthus, Epicanthus, Short stature, Cognitive impairment, Intrauterine growth retardation, Pt... |
ORPHA:1915 |
Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Myoclonus, Spastic tetraparesis, Ptosis |
OMIM:614261 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Limb hypertonia, Long eyelashes, Intrauterine growt... |
OMIM:617190 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Ptosis |
ORPHA:2511 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Hypogonadism, Blepharophimosis, Thick eyebrow, Ptosis |
ORPHA:127 |
Noonan Syndrome 9 |
|
Short stature, Sparse eyebrow, Pulmonic stenosis, Downslanted palpebral fissures, Ptosis |
OMIM:616559 |
Noonan Syndrome 4 |
|
Epicanthus, Short stature, Sparse eyebrow, Bilateral ptosis, Pulmonic stenosis, Hypertrophic card... |
OMIM:610733 |
Auriculocondylar Syndrome 2A |
|
Ptosis |
OMIM:614669 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Fatigable weakness, Ptosis, Dysphagia |
OMIM:617143 |
Addison Disease |
|
Hypoparathyroidism, Orthostatic hypotension, Salt craving, Decreased circulating cortisol level, ... |
ORPHA:85138 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Confusion, Dysesthesia, Babinski sign, Impaired proprioception, Abnormal pyramidal sign, ... |
ORPHA:79138 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... |
OMIM:263400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Confusion, Heart block, Capillary leak, Reduced left ventricular ejection fraction, ... |
ORPHA:542323 |
Joubert Syndrome 37 |
|
Oculomotor apraxia, Short stature, Ptosis |
OMIM:619185 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ptosis, Hypertrophic cardiomyopathy, Ataxia, Truncal ataxia |
OMIM:220110 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Growth delay, Increased circulating renin level, Adrenal in... |
ORPHA:427 |
Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Diabetes mellitus, Conjunctivitis, Arrhythmia, Distichiasis, Ectropion |
ORPHA:33001 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Inability to walk, Left ventricular outflow tract obstruction, Vasculi... |
ORPHA:365 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Downslanted palpebral fissures, Ptosis |
OMIM:616828 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Hypoten... |
OMIM:203400 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, D... |
ORPHA:1934 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Short stature, Blepharospasm, Irritability, Hypertonia, Gait disturb... |
ORPHA:800 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short stature, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Grow... |
OMIM:615866 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hyp... |
ORPHA:100079 |
Glutaric Acidemia I |
|
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia |
OMIM:231670 |
Dubowitz Syndrome |
|
Short attention span, Hyperactivity, Epicanthus, Telecanthus, Short stature, Postnatal growth ret... |
OMIM:223370 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Short stature, Absent eyelashes, Tongue thrusting, Hypertonia, Pulmon... |
OMIM:115150 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomyopathy, Intrauterine growth retardation, Hypothyroidism, Ptosis |
OMIM:617713 |
Stickler Syndrome, Type Vi |
|
Downslanted palpebral fissures, Ptosis |
OMIM:620022 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Ptosis |
OMIM:223360 |
Good Syndrome |
|
Diabetes mellitus, Thymoma, Fatigable weakness, Dysphagia, Aplasia/Hypoplasia of the thymus, Ptosis |
ORPHA:169105 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Ptosis |
ORPHA:1154 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscles, Superio... |
OMIM:600638 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Epicanthus, Short stature, Impulsivity, Upslanted palpebral fissure, Pulmonic sten... |
OMIM:610443 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Chorea, Intracranial hemorrhage, Hypertonia, Intrauterine growth ret... |
ORPHA:565 |
Myopathy, Centronuclear, X-Linked |
|
Hypokinesia |
OMIM:310400 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hyperactivity, Epicanthus, Short stature, Long eyelashes, Pulmonic stenosis... |
OMIM:607721 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Hyperinsulinemia, Syncope, Orthostatic s... |
ORPHA:230 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Intrauterine growth ret... |
ORPHA:2319 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Short stature, Upslanted palpebral fissure, Irritability, Hypotension... |
ORPHA:2135 |
Ohdo Syndrome |
|
Epicanthus, Short stature, Sparse eyebrow, Blepharophimosis, Ptosis |
OMIM:249620 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Ataxia, Short stature, Spastic tetraplegia, Dystonia, Intrauterine growth retardation... |
OMIM:251300 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis, Dysphagia |
OMIM:616323 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Short stature, Growth delay, Dystonia, Ptosis |
ORPHA:457193 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Short stature, Downslanted palpebral fissures, Ptosis |
ORPHA:2496 |
Dermoodontodysplasia |
|
Ptosis, Abnormal eyelid morphology |
ORPHA:1660 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension, Chorea, Depression |
ORPHA:536 |
X-Linked Mandibulofacial Dysostosis |
|
Epicanthus, Short stature, Pulmonic stenosis, Downslanted palpebral fissures, Aplasia/Hypoplasia ... |
ORPHA:1131 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Ptosis |
ORPHA:1473 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ataxia, Bilateral ptosis, Hypovolemia, Apraxia, Int... |
ORPHA:99885 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
Ruvalcaba Syndrome |
|
Intrauterine growth retardation, Downslanted palpebral fissures, Delayed puberty, Ptosis |
ORPHA:3121 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Telangiectasia of the skin, Decreased response to growth hormone stimulation ... |
OMIM:616007 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Ptosis |
ORPHA:895 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Ptosis |
OMIM:618731 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive be... |
OMIM:300967 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Anorexia, Myocarditis, Chorea, Depression, Arteritis |
ORPHA:1304 |
Ogden Syndrome |
|
Maternal diabetes, Abnormal eyelid morphology, Ventricular tachycardia, Hypertonia, Supraventricu... |
OMIM:300855 |
Adnp Syndrome |
|
Short stature, Aggressive behavior, Oral-pharyngeal dysphagia, Bilateral ptosis, Hypertonia, Comp... |
ORPHA:404448 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Ptosis |
OMIM:136760 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Hooded eyelid, Short stature, Highly arched eyebrow, Synophrys, Nasol... |
OMIM:610759 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Heart murmur, Blepharophimosis, Intrauterine growth retardation, Pt... |
ORPHA:2728 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Lower limb spasticity, Spasticity, Spastic paraplegia, Ptosis |
ORPHA:2824 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Downslanted palpebral fissures, Hypogonadotropic hypogonadism, Ptosis |
ORPHA:3068 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Decreased response to growth hormone stimulation test, Aggressive behavior... |
ORPHA:529962 |
Tyshchenko Syndrome |
|
Intrauterine growth retardation, Short stature, Pulmonic stenosis, Ptosis |
OMIM:615102 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Short stature, Disproportionate short-trunk short stature, Gro... |
ORPHA:168549 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Tachycardia, Hypotension |
OMIM:145600 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Telecanthus, Short stature, Ptosis |
OMIM:247410 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Ptosis, Epicanthus, Decreased response to growth hormone stimulation test, Precoc... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Ptosis, Epicanthus, Decreased response to growth hormone stimulation test, Precoc... |
ORPHA:363958 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Ataxia, Decreased response to growth hormone stimulation t... |
ORPHA:699 |
Myopathy, Centronuclear, 1 |
|
Ptosis |
OMIM:160150 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:3236 |
Kosaki Overgrowth Syndrome |
|
Progressive neurologic deterioration, Depression, Xanthelasma, Downslanted palpebral fissures, Pt... |
OMIM:616592 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Ptosis |
ORPHA:1067 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Paralysis, Spastic paraplegia, Limb ataxia, G... |
ORPHA:2072 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Concentric hypertrophic cardiomyopathy, Spasticity, Upslanted palpebral fi... |
OMIM:252010 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysi... |
ORPHA:79102 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Ptosis |
OMIM:619465 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Ptosis, Telecanthus, Myoclonus, Downslanted palpebral fissures, Sparse lateral ey... |
ORPHA:314655 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow... |
ORPHA:1784 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Narrow palpebral fissure, Pulmonary insufficiency, Downslanted palpebral fissures, Bradycardia |
OMIM:614437 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted palpebral fi... |
ORPHA:73246 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal... |
ORPHA:100078 |
Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Ptosis |
OMIM:165098 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Ptosis, Telecanthus, Epicanthus, Short stature, Postnatal growth retardation,... |
ORPHA:235 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Cardiofaciocutaneous Syndrome 2 |
|
Absent eyebrow, Ptosis |
OMIM:615278 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Babinski sign, Bradykinesia, Dystonia, Ptosis |
OMIM:614924 |
Fountain Syndrome |
|
Epicanthus, Short stature, Synophrys, Thick eyebrow, Ptosis |
ORPHA:3219 |
Kbg Syndrome |
|
Telecanthus, Short stature, Synophrys, Attention deficit hyperactivity disorder, Long palpebral f... |
OMIM:148050 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Short stature, Portal hypertension, Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroidit... |
OMIM:613385 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Confusion, Ataxia, ST segment depression, Hypotension, ... |
ORPHA:466650 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension |
ORPHA:70578 |
Coffin-Siris Syndrome |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Prominent eyelashes, Growth del... |
ORPHA:1465 |
Marden-Walker Syndrome |
|
Epicanthus, Postnatal growth retardation, Blepharophimosis, Intrauterine growth retardation, Ptosis |
OMIM:248700 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Upslanted palpebral fissure, Hypertension, Growth delay, Ptosis |
OMIM:619758 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Hypoesthesia, Distal sensory impairment, Dementia, Dysphagia, Allodynia, Ptosis |
OMIM:603041 |
Autosomal Dominant Centronuclear Myopathy |
|
Difficulty walking, Ptosis |
ORPHA:169189 |
Intestinal Botulism |
|
Ptosis, Dysphagia |
ORPHA:178481 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Short stature, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pter... |
OMIM:265000 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Hypertonia, Short stature, Ptosis |
ORPHA:2031 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Short stature, Highly arched... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Short stature, Highly arched... |
ORPHA:353277 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Ataxia, Short stature, Downslanted palpebral fissures, Ptosis |
OMIM:300661 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Synophrys, Thick eyebrow, Ptosis |
ORPHA:894 |
Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Short stature, Growth delay, Downslanted palpebral fissures, Hypertensive crisis, Ptosis |
ORPHA:1358 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Maturity-onset diabetes of the young, Oculogyric crisis, Tremor, Ir... |
ORPHA:1578 |
Codas Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:1458 |
Arima Syndrome |
|
Ataxia, Growth delay, Hypertension, Polydipsia, Ptosis |
OMIM:243910 |
Fetal Hydantoin Syndrome |
|
Intrauterine growth retardation, Epicanthus, Short stature, Ptosis |
ORPHA:1912 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Ptosis |
OMIM:210700 |
Joubert Syndrome 5 |
|
Oculomotor apraxia, Ptosis, Ataxia, Aggressive behavior |
OMIM:610188 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Transient ischemic attack, Palpebral edema, Highly arched eyebrow, Growt... |
ORPHA:2995 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Anorexia |
ORPHA:98850 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Slurred speech, Depression, Hypotension, Arrhy... |
ORPHA:707 |
Arthrogryposis, Distal, Type 2A |
|
Epicanthus, Telecanthus, Postnatal growth retardation, Blepharophimosis, Ptosis |
OMIM:193700 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Ptosis |
OMIM:255320 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Broad-based gait, Short stature, Ptosis |
OMIM:609037 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Bruxism, Shallow orbits, Long palpebral fissure, Intrauterine growth ret... |
ORPHA:453499 |
Short Stature And Facioauriculothoracic Malformations |
|
Proportionate short stature, Ptosis |
OMIM:609654 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Pulmonary arterial hypertension, Spasticity, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block, Ptosis |
OMIM:610131 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Epicanthus, Short stature, Myocardial infarction, High urinary gonadotropi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Epicanthus, Short stature, Myocardial infarction, High urinary gonadotropi... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Epicanthus, Short stature, Myocardial infarction, High urinary gonadotropi... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Epicanthus, Short stature, Myocardial infarction, High urinary gonadotropi... |
ORPHA:881 |
Arboleda-Tham Syndrome |
|
Epicanthus, Dystonia, Lacrimal duct stenosis, Highly arched eyebrow, Upper eyelid edema, Growth d... |
OMIM:616268 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Crouzon Syndrome |
|
Conjunctivitis, Ptosis |
ORPHA:207 |
3Mc Syndrome 2 |
|
Torticollis, Highly arched eyebrow, Postnatal growth retardation, Blepharophimosis, Epicanthus in... |
OMIM:265050 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Lagophthalmos, Growth delay, Dysphagia, Pulmonary arterial hypertension, Downslanted ... |
OMIM:254940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Epicanthus, Aggressive behavior, Precocious puberty, Synophrys, Downslanted... |
OMIM:301066 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618736 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Ptosis |
ORPHA:2522 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Ankle clonus, Narrow palpebral fissure... |
OMIM:613776 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Short stature, Ptosis |
ORPHA:66629 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Cerebral palsy, Elevated circulating growth hormone concentration, I... |
ORPHA:2796 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:618619 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Increased circulating gonadotropin level, Blepharophimosis, E... |
OMIM:110100 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Joubert Syndrome 30 |
|
Ptosis |
OMIM:617622 |
Cholera |
|
Tachycardia, Irritability, Hypovolemic shock, Hypotension, Lethargy |
ORPHA:173 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Lethargy |
ORPHA:99828 |
Au-Kline Syndrome |
|
Lagophthalmos, Hypertension, Attention deficit hyperactivity disorder, Shallow orbits, Long palpe... |
OMIM:616580 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:1185 |
Six2-Related Frontonasal Dysplasia |
|
Short stature, Abnormality of the thyroid gland, Intrauterine growth retardation, Epicanthus inve... |
ORPHA:488437 |
Rubinstein-Taybi Syndrome 1 |
|
Short attention span, Hyperactivity, Broad eyebrow, Epicanthus, Incoordination, Impulsivity, High... |
OMIM:180849 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Dysphagia, Sinus bradycardia |
OMIM:619482 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... |
ORPHA:289548 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, A... |
ORPHA:353281 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Ptosis |
ORPHA:93262 |
Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis |
OMIM:188025 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Acrofrontofacionasal Dysostosis 2 |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:239710 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis |
ORPHA:1778 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Short stature, Mitral regurgitation, Pulmonary ins... |
ORPHA:230851 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Chromosome 18P Deletion Syndrome |
|
Epicanthus, Dystonia, Short stature, Ptosis |
OMIM:146390 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Telecanthus, Highly arched eyebrow, Synophrys, Limb hypertonia, Downslanted... |
OMIM:609460 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Palpebral edema, Ptosis |
ORPHA:1259 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Ptosis |
OMIM:616239 |
Aa Amyloidosis |
|
Hypothyroidism, Hypotension, Adrenal insufficiency |
ORPHA:85445 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Long palpebral fissure, Mitral regurgitation, Ptosis |
OMIM:603387 |
Cenani-Lenz Syndrome |
|
Hypothyroidism, Ectropion, Downslanted palpebral fissures, Ptosis |
ORPHA:3258 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Postnatal growth retardation, Sy... |
OMIM:257920 |
Arthrogryposis, Distal, Type 1A |
|
Short stature, Ptosis |
OMIM:108120 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in... |
ORPHA:90794 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Spasticity, Depression, Neonatal death, Emotional lability, Hypertrophic cardiomyopathy, ... |
OMIM:124000 |
Vici Syndrome |
|
Epicanthus, Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardi... |
OMIM:242840 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Short stature, Poor coordination, Spastic diplegia, Upslanted palpebral fissure, D... |
OMIM:309590 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Short stature, Anorexia, Ptosis |
ORPHA:1969 |
Jackson-Weiss Syndrome |
|
Ptosis |
ORPHA:1540 |
Isolated Posterior Meningocele |
|
Paraplegia, Hypertonia, Upper limb spasticity, Difficulty walking, Hypokinesia |
ORPHA:268810 |
Buratti-Harel Syndrome |
|
Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:619314 |
3Mc Syndrome |
|
Telecanthus, Highly arched eyebrow, Postnatal growth retardation, Blepharophimosis, Epicanthus in... |
ORPHA:293843 |
Jacobsen Syndrome |
|
Epicanthus, Ectropion, Short stature, Growth delay, Eyelid coloboma, Attention deficit hyperactiv... |
ORPHA:2308 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Short stature, Myocardial infarction, Growth delay, Arrhythmia, Pulmonic ste... |
ORPHA:500 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Confusion, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, M... |
ORPHA:340 |
Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
Meckel Syndrome, Type 10 |
|
Narrow palpebral fissure, Epicanthus, Ptosis |
OMIM:614175 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Downslanted palpebral fissures, Short stature, Ptosis |
ORPHA:949 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Short stature, Highly arched eyebrow... |
OMIM:617506 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity |
OMIM:176500 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Impaired pain sensation, Inability to walk, Bruxism, Growth delay, Shallow orbits, Long palpebral... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Impaired pain sensation, Inability to walk, Bruxism, Growth delay, Shallow orbits, Long palpebral... |
ORPHA:352665 |
Cardiofaciocutaneous Syndrome |
|
Epicanthus, Short stature, Abnormal eyelash morphology, Sparse or absent eyelashes, Pulmonic sten... |
ORPHA:1340 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pain insensitivity, Telangiectasia of the skin, Myocardial infarctio... |
ORPHA:679 |
Joubert Syndrome 21 |
|
Oculomotor apraxia, Ptosis, Ataxia, Dysphagia |
OMIM:615636 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Ptosis, Sparse lateral eyebrow |
OMIM:619955 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis |
ORPHA:2064 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short attention span, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardat... |
OMIM:613563 |
Oculocerebrocutaneous Syndrome |
|
Hemiplegia/hemiparesis, Eyelid coloboma, Ptosis |
ORPHA:1647 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Broad-based gait, Short stature, Sparse eyebrow, Synophrys, Ptosis |
OMIM:309583 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Noonan Syndrome 10 |
|
Epicanthus, Mitral stenosis, Short stature, Sparse eyebrow, Mitral regurgitation, Pulmonic stenos... |
OMIM:616564 |
Primrose Syndrome |
|
Restlessness, Epicanthus, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Short statur... |
OMIM:259050 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Progressive neurologic deterioration, Ptosis |
OMIM:615453 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Telecanthus, Epicanthus, Broad-based gait, Highly arched eyebrow, Gait ataxia, Violent behavior, ... |
OMIM:280000 |
Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Irritability, Hypotension |
ORPHA:292 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Intrauterine growth retardation, Short stature, Ptosis |
ORPHA:1323 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Epicanthus, Ptosis |
OMIM:220500 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Severe postnatal growth retardation, Ptosis |
ORPHA:98905 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Congestive heart failure, Mild short stature, Ptosis |
OMIM:309900 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Short stature, Ptosis |
OMIM:114300 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigable weakness, Ptosis |
ORPHA:257 |
Monosomy 22Q13.3 |
|
Hyperactivity, Epicanthus, Palpebral edema, Impaired pain sensation, Hair-pulling, Long eyelashes... |
ORPHA:48652 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Highly arched eyebrow, Curly eyelashes, Synophrys, Self-injurious behavior, Hypert... |
OMIM:122470 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:619493 |
Branchio-Oculo-Facial Syndrome |
|
Short stature, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Intrauterine growth re... |
ORPHA:1297 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis |
OMIM:608624 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Telecanthus, Cardiomyopathy, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:217980 |
Craniosynostosis 6 |
|
Ptosis |
OMIM:616602 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypoparathyroidism, Telecanthus, Epicanthus, Hyperthyroidism, Short ... |
ORPHA:567 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Epicanthus, Attention deficit hyperactivity disorder, Ptosis |
OMIM:619934 |
Myhre Syndrome |
|
Severe short stature, Precocious puberty, Hypertension, Hypogonadism, Blepharophimosis, Intrauter... |
ORPHA:2588 |
Noonan Syndrome 2 |
|
Epicanthus, Mitral stenosis, Short stature, Sparse eyebrow, Cardiomyopathy, Pulmonic stenosis, Hy... |
OMIM:605275 |
Arthrogryposis, Distal, Type 5D |
|
Ptosis, Short stature, Highly arched eyebrow, Lagophthalmos |
OMIM:615065 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Moebius Syndrome |
|
Epicanthus, Hypogonadotropic hypogonadism, Dysphagia, Blepharitis, Ptosis |
ORPHA:570 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short stature, Highly arched eyebrow, Synophrys, Lower limb hypertonia, Oculomotor apraxia, Downs... |
OMIM:616728 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Short stature, Synophrys, Abnormality of the hypothalamus-pituitary axis, Downslanted... |
ORPHA:251014 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness, Hashimoto thyroiditis, Thymoma, Ptosis |
OMIM:159400 |
Inhalational Botulism |
|
Paralysis, Ptosis |
ORPHA:254504 |
Opitz Gbbb Syndrome |
|
Short attention span, Telecanthus, Short stature, Dysphagia, Thyroglossal cyst, Downslanted palpe... |
ORPHA:2745 |
Char Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:46627 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Hypogonadotropic hypogonadism, Levator palpebrae superioris atrophy, Congenital fibr... |
ORPHA:45358 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Short stature, Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebr... |
OMIM:178110 |
Multiple Synostoses Syndrome 1 |
|
Upslanted palpebral fissure, Waddling gait, Ptosis |
OMIM:186500 |
Inhalational Anthrax |
|
Internal hemorrhage, Confusion, Hypotension |
ORPHA:247257 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Downslanted palpebral fissures, Ptosis |
OMIM:614816 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Short stature, Rhizomelia, Abnormal eyelash morphology, Upslanted palpebral fissure, ... |
ORPHA:818 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis |
ORPHA:2988 |
Marden-Walker Syndrome |
|
Severe short stature, Growth delay, Attention deficit hyperactivity disorder, Blepharophimosis, I... |
ORPHA:2461 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Epicanthus, Short stature, Aggressive behavior, Precocious puberty, Growth delay, ... |
OMIM:270400 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Portal hypertension, Thyroiditis, Type I diabetes mellitus, Hypothyroidism, Ptosis |
ORPHA:228426 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Difficulty walking, Attention deficit hyperactivity disorder, Ptosis |
OMIM:618748 |
Prolidase Deficiency |
|
Diffuse telangiectasia, Ptosis |
OMIM:170100 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyopathy, Growth delay, Ptosis |
OMIM:615895 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Eyelid colob... |
OMIM:147791 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Confusion, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Lathosterolosis |
|
Epicanthus, Myoclonus, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis |
ORPHA:46059 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Downslanted palpebral fissures, Ptosis |
ORPHA:1555 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Abnormality of the endocrine system, Synophrys, Postnatal ... |
ORPHA:487796 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Streak ovary, Upslanted palpebral fissure, Attention deficit hyperactivity disorder, ... |
OMIM:618820 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Growth delay, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:614230 |
3Mc Syndrome 3 |
|
Short stature, Highly arched eyebrow, Growth delay, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Sparse eyebrow, Upslanted palpebral fissure, Blepharophim... |
OMIM:244450 |
Charge Syndrome |
|
Epicanthus, Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, Postnatal growth... |
ORPHA:138 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Supravalvar pulmonary stenosis, Hypertonia, Intrauterine growth retardation, Aortic v... |
OMIM:618164 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Pfeiffer Syndrome |
|
Short stature, Ptosis |
ORPHA:710 |
Van Maldergem Syndrome 2 |
|
Epicanthus, Growth delay, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, Pt... |
OMIM:615546 |
Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr... |
OMIM:613458 |
Van Maldergem Syndrome 1 |
|
Epicanthus, Growth delay, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:601390 |
Acromelic Frontonasal Dysplasia |
|
Hypopituitarism, Telecanthus, Anterior pituitary hypoplasia, Ptosis |
ORPHA:1827 |
Rat-Bite Fever |
|
Diminished movement, Myocarditis, Pericarditis |
ORPHA:31205 |
Cornelia De Lange Syndrome |
|
Short stature, Curly eyelashes, Highly arched eyebrow, Synophrys, Severe postnatal growth retarda... |
ORPHA:199 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Severe short stature, Downslanted palpebral fissures, Ptosis |
ORPHA:2215 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Fatigable weakness of skeletal muscles, Difficulty walking, Ptosis |
OMIM:617239 |
Leopard Syndrome 1 |
|
Bundle branch block, Epicanthus, Short stature, Delayed menarche, Hypoplasia of the ovary, Third ... |
OMIM:151100 |
Saethre-Chotzen Syndrome |
|
Blepharospasm, Epicanthus, Short stature, Ptosis |
ORPHA:794 |
Hereditary Angioedema Type 1 |
|
Paresthesia, Hypotension, Dysphagia |
ORPHA:100050 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Short stature, Upslanted palpebral fissure, Hypertension, Mitral regurgitat... |
OMIM:611962 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Bilateral ptosis, Thin eyebrow, Ptosis |
OMIM:618000 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Conjunctivitis, Arrhythmia, Distichiasis, Ectropion |
OMIM:153400 |
Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Long eyelashes, Hypothyroidism... |
OMIM:618268 |
Frontorhiny |
|
Hypopituitarism, Epicanthus, Diabetes insipidus, Ptosis |
ORPHA:391474 |
Scarf Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:3134 |
Loeys-Dietz Syndrome 5 |
|
Short stature, Growth delay, Mitral regurgitation, Long palpebral fissure, Downslanted palpebral ... |
OMIM:615582 |
Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Irritability, Conjunctivitis, Ar... |
ORPHA:2331 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Epicanthus, Short stature, Ptosis |
OMIM:616723 |
Lateral Meningocele Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:130720 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Intraventricular hemorrhage, Narrow palpebral fissure, Downslanted palpebral fissures... |
OMIM:613603 |
Muenke Syndrome |
|
Ptosis |
ORPHA:53271 |
Lysosomal Acid Lipase Deficiency |
|
Psychomotor deterioration, Adrenal calcification, Hypovolemia, Primary adrenal insufficiency, Xan... |
ORPHA:275761 |
Neuroocular Syndrome |
|
Short stature, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Lo... |
OMIM:619539 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho... |
ORPHA:2526 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Short stature, Sparse eyebrow, Ptosis |
OMIM:129400 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Ptosis |
ORPHA:2712 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
8Q21.11 Microdeletion Syndrome |
|
Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:284160 |
14Q22Q23 Microdeletion Syndrome |
|
Epicanthus, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Short stature,... |
ORPHA:264200 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Ataxia, Highly arched eyebrow, Intrauterine growth retardation, Downslanted palpebral... |
ORPHA:280 |
Lateral Meningocele Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2789 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Short stature, Highly arched eyebrow, Aortic valve stenosis, Ptosis |
OMIM:272950 |
Xia-Gibbs Syndrome |
|
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis |
OMIM:615829 |
Ohdo Syndrome, X-Linked |
|
Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:300895 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Blepharophimosis, Telecanthus, Long eyelashes, Ptosis |
OMIM:604314 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Hypo... |
OMIM:607364 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Ptosis |
OMIM:615145 |
Noonan Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Arrhythmia, Downslanted palpebral fissures, Ptosis |
ORPHA:648 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Synophrys, Telecanthus, Ptosis |
ORPHA:3440 |
Coffin-Siris Syndrome 1 |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Gait ataxia, Long eyelashes, Co... |
OMIM:135900 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Downslanted palpebral fissures, Ptosis |
OMIM:123790 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Cong... |
ORPHA:444077 |
Glycogen Storage Disease Xii |
|
Epicanthus, Short stature, Delayed puberty, Ptosis |
OMIM:611881 |
Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:606851 |
Aase-Smith Syndrome I |
|
Ptosis |
OMIM:147800 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Tachycardia, Oral-pharyngeal dysphagia, Abnormal eyelash morphology,... |
OMIM:619488 |
Fanconi Anemia |
|
Epicanthus, Short stature, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Upslanted... |
ORPHA:84 |
Cdags Syndrome |
|
Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis |
OMIM:603116 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Conjunctival hyperemia, Retinal hemo... |
ORPHA:509 |
Congenital Myopathy 13 |
|
Telecanthus, Short stature, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fis... |
OMIM:255995 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Ptosis |
OMIM:277320 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Ptosis |
OMIM:605627 |
Neurofaciodigitorenal Syndrome |
|
Epicanthus, Short stature, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis |
ORPHA:2673 |
Cohen-Gibson Syndrome |
|
Epicanthus, Poor coordination, Gait disturbance, Downslanted palpebral fissures, Ptosis |
OMIM:617561 |
Aniridia-Absent Patella Syndrome |
|
Ptosis |
ORPHA:1069 |
Scarf Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:312830 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Epicanthus, Hyperactivity, Short stature, Upslanted palpebral fissure, Lower limb hypertonia, Hyp... |
OMIM:309580 |
Noonan Syndrome 3 |
|
Epicanthus, Short stature, Pulmonic stenosis, Hypertrophic cardiomyopathy, Downslanted palpebral ... |
OMIM:609942 |
Duane Retraction Syndrome |
|
Blepharophimosis, Blepharospasm, Short palpebral fissure, Ptosis |
ORPHA:233 |
Shprintzen-Goldberg Syndrome |
|
Mitral regurgitation, Downslanted palpebral fissures, Telecanthus, Ptosis |
ORPHA:2462 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Ptosis, Telecanthus, Downslanted palpebral fissures, Shallow orbits |
OMIM:182212 |
Kabuki Syndrome |
|
Ptosis, Short stature, Highly arched eyebrow, Precocious puberty, Long eyelashes, Eversion of lat... |
ORPHA:2322 |
Acrofrontofacionasal Dysostosis 1 |
|
Short stature, Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Ptosis |
OMIM:201180 |
Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Severe short stature, Short stature, Curly eyelashes, Upslanted palpebral fissure, Eu... |
ORPHA:3107 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Ptosis |
ORPHA:568051 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Short stature, Hypogonadism, Pulmonic stenosis, Aortic valve stenosis, ... |
ORPHA:536471 |
Oculogastrointestinal Muscular Dystrophy |
|
Ptosis |
ORPHA:1876 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Short stature, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted ... |
OMIM:616734 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Dysphagia, K... |
ORPHA:2363 |
Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Long eyelashes, Disproportionate short-limb short statur... |
ORPHA:1507 |
Nail-Patella Syndrome |
|
Short stature, Antecubital pterygium, Ptosis |
OMIM:161200 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Diabetes mellitus, Epistaxis, Hematemesis, Myocarditis... |
ORPHA:73263 |
Myasthenic Syndrome, Congenital, 19 |
|
Ptosis |
OMIM:616720 |
Kabuki Syndrome 1 |
|
Short stature, Highly arched eyebrow, Premature thelarche, Sparse eyebrow, Bilateral ptosis, Post... |
OMIM:147920 |
Acromelic Frontonasal Dysostosis |
|
Hypopituitarism, Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:603671 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Epicanthus, Congestive heart failure, Arterial rupture, Downslanted ... |
OMIM:225400 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Ptosis |
ORPHA:3217 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Neurofibromatosis-Noonan Syndrome |
|
Epicanthus, Short stature, Pulmonic stenosis, Lisch nodules, Downslanted palpebral fissures, Ptosis |
OMIM:601321 |
Coffin-Siris Syndrome 4 |
|
Short stature, Long eyelashes, Pulmonic stenosis, Intrauterine growth retardation, Thick eyebrow,... |
OMIM:614609 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Ptosis, Short stature, Highly arched eyebrow, Pulmonary arterial hypertension, Intrauterine growt... |
ORPHA:2282 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Short stature, Highly arched eyebrow, Precocious puberty, Growth delay, Severe postna... |
OMIM:194190 |
Codas Syndrome |
|
Vocal cord paresis, Short stature, Ptosis |
OMIM:600373 |
Congenital Myopathy 17 |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:618975 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Ayme-Gripp Syndrome |
|
Pericarditis, Short stature, Upslanted palpebral fissure, Downslanted palpebral fissures, Broad e... |
OMIM:601088 |
Ophthalmoplegia, Familial Static |
|
Ptosis |
OMIM:165000 |
Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... |
OMIM:229400 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short attention span, Epicanthus, Short stature, Pseudohypoparathyroidism, Intrauterine growth re... |
OMIM:617157 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Torticollis, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Ptosis |
OMIM:609945 |
Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Epicanthus, Short palpebral fissure, Ptosis |
ORPHA:959 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:104350 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Short stature, Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic ho... |
ORPHA:672 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Hooded upper eyelid, Ptosis |
OMIM:618548 |
Microphthalmia, Syndromic 2 |
|
Short stature, Laterally curved eyebrow, Adrenal insufficiency, Pulmonic stenosis, Spastic parapa... |
OMIM:300166 |
Noonan Syndrome 1 |
|
Epicanthus, Short stature, Postnatal growth retardation, Hypogonadism, Pulmonic stenosis, Hypertr... |
OMIM:163950 |
Auriculocondylar Syndrome |
|
Ptosis |
ORPHA:137888 |
Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Depression, Keratoconjunctivitis sicca, Paresthesia, Arrhythmia, Ptosis |
ORPHA:285 |
Lathosterolosis |
|
Growth delay, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:607330 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Costello Syndrome |
|
Epicanthus, Short stature, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyopathy, Downslante... |
OMIM:218040 |
Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Arrhythmia, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:1519 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Phace Syndrome |
|
Hemiplegia/hemiparesis, Abnormality of the orbital region, Ectopic thyroid, Hypothyroidism, Ptosis |
ORPHA:42775 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Ptosis |
OMIM:259100 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Postnatal growth retardation, Congestive heart failure, Mitral regurgitatio... |
ORPHA:90348 |
Tukel Syndrome |
|
Congenital fibrosis of extraocular muscles, Ptosis |
OMIM:609428 |
Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Stillbirth, Blepharophimosis, Intrauterine growth retardation, Short palpebral fissu... |
OMIM:208150 |
Diamond-Blackfan Anemia |
|
Epicanthus, Short stature, Growth delay, Lethargy, Ptosis |
ORPHA:124 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Ptosis |
OMIM:146255 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Hypogonadism, Ptosis |
OMIM:614231 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Upslanted palpebral fissure, Mitral regurgitation, Ptosis |
OMIM:157800 |
Menke-Hennekam Syndrome 1 |
|
Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Blepharophim... |
OMIM:618332 |
Aniridia 1 |
|
Bilateral ptosis, Corneal neovascularization, Ptosis |
OMIM:106210 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Bruxism... |
ORPHA:261537 |
Holoprosencephaly 4 |
|
Ptosis |
OMIM:142946 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... |
OMIM:154500 |
Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Telecanthus, Epicanthus, Broad-based gait, Short stature, Highly arched eyebrow, Impaired pain se... |
ORPHA:261552 |
Meckel Syndrome, Type 1 |
|
Intrauterine growth retardation, Epicanthus inversus, Adrenal hypoplasia, Ptosis |
OMIM:249000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Mesomelia-Synostoses Syndrome |
|
Mesomelic short stature, Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:600383 |
Chime Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Ptosis |
ORPHA:3474 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis |
OMIM:167100 |
Monosomy 13Q14 |
|
Intrauterine growth retardation, Epicanthus, Short stature, Ptosis |
ORPHA:1587 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Ptosis |
OMIM:618283 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis |
ORPHA:306542 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Ptosis |
OMIM:274000 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mild postnatal growth retardation, Myocardial infarction, Hemiparesis, Growth delay, Thick eyebro... |
OMIM:150230 |
Okamoto Syndrome |
|
Long palpebral fissure, Severe postnatal growth retardation, Aortic valve stenosis, Ptosis |
ORPHA:2729 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Short stature, Absent eyelashes, Growth delay, Hypertension, Neonatal death, Corn... |
OMIM:308205 |
Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Sudden cardiac death, Pulmonary embolism, Retinal hamarto... |
ORPHA:744 |
Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Telangiectasia of the skin, Transient ischemic attack, Ep... |
ORPHA:286 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Short stature, Congestive heart failure, Aortic valve stenosis, Ptosis |
OMIM:182250 |
Peters-Plus Syndrome |
|
Rhizomelia, Postnatal growth retardation, Upslanted palpebral fissure, Narrow palpebral fissure, ... |
OMIM:261540 |
Viss Syndrome |
|
Epidural hemorrhage, Ectropion, Short stature, Dysphagia, Long palpebral fissure, Pulmonary arter... |
OMIM:619472 |
Faciocardiomelic Syndrome |
|
Telecanthus, Short eyelashes, Ptosis |
OMIM:612731 |
Branchiooculofacial Syndrome |
|
Telecanthus, Postnatal growth retardation, Nasolacrimal duct obstruction, Upslanted palpebral fis... |
OMIM:113620 |
Pallister-Killian Syndrome |
|
Telecanthus, Epicanthus, Sparse eyelashes, Rhizomelia, Mesomelic/rhizomelic limb shortening, Spar... |
OMIM:601803 |
Saethre-Chotzen Syndrome |
|
Ptosis, Abnormal nasolacrimal system morphology, Short stature, Shallow orbits |
OMIM:101400 |
Mowat-Wilson Syndrome |
|
Short stature, Pulmonic stenosis, Downslanted palpebral fissures, Broad eyebrow, Ptosis |
OMIM:235730 |
Microphthalmia, Syndromic 1 |
|
Aggressive behavior, Spastic diplegia, Growth delay, Self-mutilation, Ptosis |
OMIM:309800 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Ptosis |
OMIM:161700 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis |
OMIM:164210 |