| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Sensory ataxia, Dementia, Difficulty walking, Dystonia, Mental deterioration |
OMIM:619661 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Unsteady gait, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia, Spastic gait |
ORPHA:320411 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Gait disturbance, Dystonia, Mental deterioration, Spasticity |
OMIM:614561 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Confusion, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Irritability, Dy... |
ORPHA:263410 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia |
OMIM:128101 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Unsteady gait, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia |
OMIM:615030 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia |
OMIM:619681 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Irritability, Dystonia, Spasticity |
OMIM:614249 |
| Dystonia 30 |
|
Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia, Loss o... |
OMIM:619291 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia, Memory impairment |
OMIM:108600 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Tremor, Rigidity, Chorea, Depression, Cognitive impairment, Dystonia, Memory impairment |
ORPHA:401901 |
| Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Rigidity, Limb ataxia, Depression, Gait ataxia, Cognitive impairment, L... |
ORPHA:101109 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,... |
OMIM:619565 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
| Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Depression, Gait ataxia, Progressive cerebellar ataxia, Attention defi... |
OMIM:605361 |
| Dystonia With Cerebellar Atrophy |
|
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia |
OMIM:611694 |
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, Spastic gait |
OMIM:618284 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Progressive neurologic deterioration, Cognitive impairment, Dystonia, Mental deterioration |
OMIM:619196 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotoni... |
OMIM:619389 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Kinetic tremor, Postural tremor, Abnormal cortical gyration... |
ORPHA:98756 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Chorea, Torsion dystonia, Choreoathetosis, Irritability, Paresthes... |
ORPHA:98811 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Rigidity, Chorea, Depression, Focal dystonia, Irritability, Gait disturbance, Cognitive i... |
ORPHA:216873 |
| Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity |
OMIM:619687 |
| Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Cognitive impairment,... |
OMIM:617284 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Impaired vibration sensation i... |
ORPHA:251282 |
| Striatonigral Degeneration, Childhood-Onset |
|
Unsteady gait, Hypotonia, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, Craniofacial d... |
OMIM:617054 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Dystonia 12 |
|
Torticollis, Tremor, Unsteady gait, Depression, Dystonia, Emotional lability |
OMIM:128235 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Dementi... |
OMIM:604326 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Tremor, Rigidity, Gait disturbance, Dystonia |
OMIM:600116 |
| Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Confusion, Dystonia |
OMIM:610353 |
| Huntington Disease-Like 2 |
|
Chorea, Dementia, Gait disturbance, Dystonia, Memory impairment |
ORPHA:98934 |
| Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... |
OMIM:602629 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia |
OMIM:614860 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Depression, Gait ataxia, Generalized hypotonia, Limb dystonia, Emoti... |
ORPHA:71517 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Hypotonia, Choreoathetosis, Irritability, Hypertoni... |
OMIM:261630 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Tremor, Rigidity, Chorea, Depression, Athetosis, Dysdiadochokinesis, Gait disturbance, Dystonia, ... |
OMIM:213600 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-t... |
OMIM:609195 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Tip-toe gait, Gait d... |
OMIM:615643 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Dystonia, Spasticity |
OMIM:618276 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Chorea, Choreoathetosis, Dementia, Dystonia |
OMIM:125370 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Dystonia |
OMIM:618425 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Depression, Gait ataxia, Irritability, Progressive ce... |
ORPHA:248111 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Tremor, Chorea, Dysmetria, Depression, Gait ataxia, Irritability, Dystonia, Mental deteri... |
OMIM:618093 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Dystonia, Writer's cramp, Depression |
ORPHA:36899 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Irritability, Dementia, Dystonia, Memory impa... |
OMIM:606438 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ... |
OMIM:618418 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Depression |
OMIM:159900 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Writer's cramp, Rigidity, Chorea, Atrophy/Degeneration affecting the brainst... |
ORPHA:98759 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Confusion, Rigidity, Chorea, Dysmetria, Depression, Frontal lobe dement... |
OMIM:607136 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Dystonia |
OMIM:620245 |
| Alternating Hemiplegia Of Childhood 2 |
|
Mental deterioration, Ataxia, Choreoathetosis, Dystonia |
OMIM:614820 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia |
OMIM:619966 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper ... |
OMIM:614898 |
| Dystonia 16 |
|
Limb dystonia, Generalized dystonia, Postural tremor, Gait disturbance, Retrocollis, Cognitive im... |
OMIM:612067 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Impaired distal vibration sensation... |
OMIM:128230 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochok... |
OMIM:617145 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypotonia, Dysmetria, Dy... |
OMIM:617954 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Depression, Falls, Dystonia, Mental deterioration, Memory impairment |
ORPHA:240085 |
| Dystonia 9 |
|
Spastic paraplegia, Choreoathetosis, Paresthesia, Cognitive impairment, Dystonia, Episodic ataxia |
OMIM:601042 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Hypotonia, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of t... |
OMIM:619301 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Depression, Gait disturbance, Cognitive impairment, Dystonia |
ORPHA:314632 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration affecting the brainstem... |
OMIM:612319 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Axial hypotonia, Dystonia, Oculogyric crisis, Hypertonia, Attention deficit hyp... |
OMIM:617384 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... |
ORPHA:314603 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Hypotonia, Irritability, Falls, Generalized hypotonia, Dystonia, Spasticity |
OMIM:619224 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Pill-rolling tremor, Shuffling gait, Cognitive impairment, Dystonia, Loss of ambulation... |
OMIM:615528 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
| Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia |
OMIM:605407 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Gen... |
OMIM:616756 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Axial hypotonia, Dystonia |
OMIM:619651 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Ataxia, Cognitive impairment, Dystonia |
ORPHA:1171 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Spinocerebellar Ataxia Type 11 |
|
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia |
ORPHA:98767 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia |
OMIM:615159 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a... |
OMIM:617916 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity |
OMIM:607317 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
| Dystonia 32 |
|
Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:619637 |
| Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Impaired proprio... |
ORPHA:98755 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Loss of ambulatio... |
OMIM:618088 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Chorea, Choreoathetosis, Dystonia |
ORPHA:98810 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Axial hypotonia, Dystonia |
OMIM:618760 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Hand tremor, Depression, Dementia, Dystonia, Spasticity |
OMIM:615889 |
| Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... |
OMIM:180900 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Mental deterioration, Emotional... |
ORPHA:542310 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul... |
OMIM:614458 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Spastic tetraplegia, Dystonia |
OMIM:618646 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Chorea, Writer's cramp, Dystonia |
ORPHA:98809 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Writer's cramp |
ORPHA:163727 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Dystonia, Mental deterioration, Spasticity |
OMIM:615924 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Rigidity, Hypotonia, Focal dyst... |
ORPHA:101150 |
| Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Dystonia |
OMIM:271930 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosi... |
OMIM:233910 |
| Leukodystrophy, Hypomyelinating, 25 |
|
Gait ataxia, Diminished ability to concentrate, Hypotonia, Dystonia |
OMIM:620243 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Tremor, Rigidity, Chorea, Subcortical dementia, Choreoathetosis, Blepharo... |
OMIM:606159 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Limb ... |
OMIM:616127 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Rigidity, Depression, Dementia, Dystonia |
OMIM:605909 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor... |
ORPHA:352649 |
| Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Chorea, Cogwheel rigidity, Hypert... |
OMIM:613135 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Dysmetria, Progressive spastic... |
OMIM:618404 |
| Raynaud-Claes Syndrome |
|
Lower limb spasticity, Hypotonia, Depression, Progressive cerebellar ataxia, Generalized hypotoni... |
OMIM:300114 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
| Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypotonia, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainstem, Hypertonia... |
OMIM:619302 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
| Developmental And Epileptic Encephalopathy 44 |
|
Axial hypotonia, Irritability, Athetosis, Dystonia, Spasticity |
OMIM:617132 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
| Developmental And Epileptic Encephalopathy 7 |
|
Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Rigidity, Hypoplasia of the pons, Unsteady gait, Limb ataxi... |
ORPHA:98760 |
| Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Chorea, Subcortical dementia, Leg dystonia, Focal dystonia, Front... |
ORPHA:157846 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Hypotonia, Limb dystonia |
OMIM:620270 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Dystonia, Mental deterioration, Memory impairment |
OMIM:618317 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait... |
OMIM:618049 |
| Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
| Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Ataxia, Chorea, Falls, Dystonia |
OMIM:619150 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis,... |
OMIM:261640 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ... |
OMIM:205100 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb... |
OMIM:607565 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia, Mental deterioration |
OMIM:618824 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia |
OMIM:618239 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Depression, Difficulty walking, Dystonia, Generalized hypotonia |
ORPHA:306669 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
| Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:618285 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Hypogonadotropic hypogonadism, Ataxia, Athetosis, Dystonia, Mental deterioration |
OMIM:619310 |
| Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... |
ORPHA:254881 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Truncal ataxia, Limb ataxia, Gait at... |
OMIM:208920 |
| Hypermanganesemia With Dystonia 2 |
|
Axial hypotonia, Generalized dystonia, Dystonia, Progressive neurologic deterioration, Tremor, In... |
OMIM:617013 |
| Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche |
ORPHA:330050 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Dystonia, Limb dystonia |
ORPHA:306741 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Confusion, Choreoathetosis, Spasticity |
OMIM:606777 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Infantile axial hypotonia, Tremor, Scissor gait, Dystonia, Oromandibular dystonia, Loss of ambula... |
ORPHA:521406 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Titubation, At... |
ORPHA:280219 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, H... |
OMIM:128100 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,... |
OMIM:617964 |
| Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Athetosis, Chorea, Dystonia |
OMIM:615473 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Head titubation, Hypotonia, Truncal ataxia, Limb ataxia, Cognitive impairment, Limb ... |
OMIM:617560 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Corticobasal Syndrome |
|
Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Dementia, Gait disturbance, Limb dystoni... |
ORPHA:454887 |
| Dystonia 28 |
|
Torticollis, Generalized dystonia, Precocious puberty, Leg dystonia, Depression, Arm dystonia, At... |
ORPHA:589618 |
| Leigh Syndrome |
|
Ataxia, Hypotonia, Hepatocellular necrosis, Focal substantia nigra T2 hyperintensity, Generalized... |
OMIM:256000 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia, Generalized hypotonia |
OMIM:616781 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Spasticity, Hypotonia, Dystonia |
OMIM:617820 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypotonia, Dystonia, Spa... |
OMIM:614254 |
| 3-Methylglutaconic Aciduria, Type I |
|
Short attention span, Ataxia, Spastic tetraplegia, Athetosis, Dementia, Cognitive impairment, Dys... |
OMIM:250950 |
| Dystonia 16 |
|
Torticollis, Unsteady gait, Postural tremor, Limb dystonia |
ORPHA:210571 |
| Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose |
ORPHA:90653 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Short no... |
OMIM:137550 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Amyotrophic lateral sclerosis, Athetosis, Dystonia |
OMIM:300857 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Unsteady gait, Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Dystonia... |
ORPHA:453521 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dementia, Cognitive impairment, Dystonia, Spast... |
ORPHA:79263 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Head titu... |
ORPHA:300605 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Rigidity, Thinning of the substantia nigra pars compac... |
OMIM:619911 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Confusion, Chorea, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
ORPHA:71277 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Axial hypotonia, Hypothyroidism, Dystonia |
OMIM:619647 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
| Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Abnormal substantia nigra morphology, Rigidity, Hand tremor, Gait disturbance, Shuffling gait, Dy... |
ORPHA:289560 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity |
OMIM:251950 |
| Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Cogwheel rigi... |
ORPHA:306682 |
| Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Spastic tetraplegia, Progressive neurologic deterioration, Dystonia |
OMIM:617389 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Difficulty walking, L... |
ORPHA:99657 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Cogwheel rigidity, Choreoathetosis, Gait ataxia... |
ORPHA:225154 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Atrophy/Degeneration affecting the brainstem, Athetosis, Generalized hypotonia, Dystonia,... |
OMIM:617493 |
| Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Oculogyric crisis, Chorea, Irritability, Hypertonia, Dystonia, Limb hypertonia |
ORPHA:238455 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
ORPHA:53583 |
| Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Abnormal anterior chamber morphology, Wide nasal bridge, Aplasia/Hypop... |
ORPHA:782 |
| Huntington Disease |
|
Bradyphrenia, Rigidity, Inability to walk, Chorea, Depression, Irritability, Gait disturbance, Ho... |
ORPHA:399 |
| Adult Krabbe Disease |
|
Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Pro... |
ORPHA:206448 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Rigidity, Dementia, Iron accumulation in substantia nigra, Dystonia, Spastic paraparesis |
ORPHA:329284 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Abnormal substantia nigra morphology,... |
ORPHA:98808 |
| Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, D... |
ORPHA:96 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Gait disturbance, Dystonia, Decreased serum testosterone concentration, Im... |
ORPHA:101006 |
| Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, P... |
ORPHA:280195 |
| Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
| Joubert Syndrome 4 |
|
Ataxia, Hypotonia, Generalized hypotonia, Molar tooth sign on MRI, Elongated superior cerebellar ... |
OMIM:609583 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Irritability, Hypertonia, Difficulty walk... |
ORPHA:79097 |
| Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Dystonia, Mental deterioration, Spasticity |
OMIM:604802 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Depression... |
ORPHA:13 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia |
OMIM:611031 |
| Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Confusion, Rigidity, Truncal titubation, Inability to walk, Chorea, Opisthotonus... |
OMIM:607483 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Rigidity, Inability to walk, Chorea, Dystonia, Mental deterioration, Spasticity |
OMIM:617672 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Tremor, Oromandibular dysto... |
OMIM:614298 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Tremor, Rigidity, Depression, Dementia, Dystonia, Short... |
OMIM:168600 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Microcornea, Short philtrum,... |
OMIM:601499 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Astigmatism, Everted l... |
OMIM:614753 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia |
OMIM:260300 |
| Huntington Disease-Like 3 |
|
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Progressiv... |
ORPHA:157946 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Generalized hypotonia, Dystonia |
OMIM:618224 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Irritability, Dystonia |
OMIM:250620 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Ataxia, Dystonia |
OMIM:612951 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Hypotonia, Attention deficit hyperactivity disorder, Dystonia |
OMIM:619157 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Generalized hypotonia, Dystonia |
OMIM:617836 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Irritability, Dystonia, Infantile muscular hypotonia, Premature pubarche |
ORPHA:457205 |
| Episodic Ataxia, Type 9 |
|
Episodic ataxia, Dystonia |
OMIM:618924 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Head tremor, Dystonia,... |
OMIM:613724 |
| Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Gait disturbance, Limb dystoni... |
ORPHA:508093 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia |
OMIM:314250 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystonia, Loss of ambulatio... |
OMIM:611390 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Tremor, Chorea, Depression, Hypertonia, Dystonia, Action tremor |
OMIM:619738 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Confusion, Depression, Cognitive impairment, Dystonia, Memory impairment |
ORPHA:163921 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Spasticity |
OMIM:612716 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity |
OMIM:610246 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Hypotonia, Dystonia, Spasticity, Pachygyria |
OMIM:620094 |
| 4H Leukodystrophy |
|
Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to... |
ORPHA:289494 |
| Leber Optic Atrophy And Dystonia |
|
Athetosis, Spasticity, Dementia, Dystonia |
OMIM:500001 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Spasticity, Unsteady gait, Dystonia |
OMIM:301107 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Inability to walk, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, S... |
OMIM:614066 |
| Joubert Syndrome 27 |
|
Axial hypotonia, Ataxia, Hypotonia, Gait ataxia, Molar tooth sign on MRI |
OMIM:617120 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Lower limb spasticity, Broad-based gait, Ataxia, Inability to... |
OMIM:617854 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261204 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Cognitive impairment, Dystonia, Spastic pa... |
OMIM:614487 |
| Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Dystonia, Neonatal hypotonia |
OMIM:618218 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho... |
OMIM:619653 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Hypotonia, Truncal ataxia |
OMIM:617761 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
| Foxg1 Syndrome |
|
Inability to walk, Hypotonia, Choreoathetosis, Cognitive impairment, Dystonia, Difficulty walking... |
ORPHA:561854 |
| Developmental And Epileptic Encephalopathy 27 |
|
Axial hypotonia, Chorea, Hypotonia, Dystonia, Spasticity |
OMIM:616139 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
| Infantile Convulsions And Choreoathetosis |
|
Choreoathetosis, Athetosis, Chorea, Dystonia |
ORPHA:31709 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Tremor, Spastic paraplegia, Spastic te... |
OMIM:300055 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Adrenal insufficiency, Generalized hypotonia, Dystonia, Spa... |
OMIM:618238 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Hypoplasia of the pons, Irritability, Hypertonia, Dystonia, Sp... |
OMIM:615809 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Progressive neurologic deterioration, Hypotonia, Focal dystonia, Spastic dysarth... |
ORPHA:447757 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Facial hypotonia, Hypotonia, Spastic dysarthria, Difficulty walking, Dystonia, Spa... |
ORPHA:280763 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia |
OMIM:619054 |
| Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Dystonia, Ataxia, Cognitive impairment, Atrophy/Degeneration affect... |
OMIM:616267 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Ataxia, Akinesia, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cereb... |
OMIM:607454 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Hypotonia, Athetosis, Dystonia |
ORPHA:382 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity, Infantile ... |
ORPHA:500180 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Somatic sensory dysfunction, Ataxia, Cognitive impairment, Dystonia |
ORPHA:459033 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Spastic paraplegia, Unsteady gait, Spastic tetraplegia, Dystonia, Neonatal hypotonia |
OMIM:245349 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, Dysdiadochokinesis,... |
ORPHA:98805 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Dementia, Falls, Cognitive impairment... |
ORPHA:683 |
| Atypical Rett Syndrome |
|
Impaired pain sensation, Tremor, Inability to walk, Hypotonia, Gait ataxia, Pill-rolling tremor, ... |
ORPHA:3095 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Choreoathetosis, Cognitive impairme... |
OMIM:608804 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hypotonia, Irritability, Hypertonia, Dystonia, Neonatal hypotonia |
OMIM:264470 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Dystonia |
OMIM:619065 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Dystonia, Ataxia, Tremor, Gait apraxia, Dysmetria, Depression, Gait ataxia, Limb ... |
OMIM:615157 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal... |
OMIM:245348 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Puberty and gonadal disorders, Uns... |
ORPHA:464282 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat... |
OMIM:604391 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Long nose, Hypoplasia of the ... |
OMIM:257850 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Sho... |
ORPHA:391411 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Chorea, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:606703 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:618237 |
| Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Gait disturbance, Dystonia |
OMIM:618141 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism, Crowded maxillary incisors |
ORPHA:397973 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Progressive cerebellar ataxia, Hypotonia, Dystonia |
ORPHA:139485 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Insulin-resistant diabetes mellitus, Chorea, Difficulty walking, Dystonia... |
ORPHA:401768 |
| Dystonia 26, Myoclonic |
|
Torticollis, Depression, Blepharospasm, Dystonia, Laryngeal dystonia |
OMIM:616398 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inabili... |
OMIM:611890 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia, Hypotonia |
OMIM:617767 |
| Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Dystonia, Postural tremor, Ataxia, Depression, Gait... |
ORPHA:79239 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:612438 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Polymicrogyria, Ataxia, Hypotonia |
OMIM:617757 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Inability to walk, Hypotonia, Dystonia |
OMIM:618497 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wide nasal bridge... |
OMIM:180500 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Torticollis, Spastic tetraplegia, Irritability, Hypertonia, Dystonia |
OMIM:619071 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Head titubation, Dysesthesia, Generalized hypotonia, Dystonia, Progressive spasticity, Di... |
ORPHA:527497 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Dystonia, Rigidity, Leg dystonia, Loss of ambulation, Depression, Choreoathetosis, Dementia, Gait... |
ORPHA:157850 |
| Ataxia-Telangiectasia-Like Disorder |
|
Hypergonadotropic hypogonadism, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gener... |
ORPHA:251347 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Head tre... |
ORPHA:420492 |
| 20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Malar flattening, Long philtrum |
ORPHA:261295 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Frontotemporal dementia, Gait disturbance, Dystonia, Memory impairment |
OMIM:600795 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Cataract, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Mala... |
OMIM:620157 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Spastic paraplegia, Distal sensory impairment, D... |
OMIM:606693 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Hypoplasia of the brainstem, Difficul... |
OMIM:617807 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor |
OMIM:608105 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Shuffling g... |
ORPHA:53351 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Dystonia |
OMIM:616684 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Arm dy... |
OMIM:601338 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Abnormal lens morphology, Hypoplasia of the maxilla, Abno... |
ORPHA:363417 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Postural tremor, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambu... |
OMIM:607694 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Dystonia, Hypotonia, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Spasticity |
OMIM:616277 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis, Akinesia, Rigidity, Cogw... |
ORPHA:97349 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dyston... |
ORPHA:99750 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Frontonasal Dysplasia 1 |
|
Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal br... |
OMIM:136760 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Dystonia |
OMIM:619922 |
| Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Dystonia |
OMIM:619317 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Dystonia |
OMIM:620359 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Mental deterioration, Progressive cerebellar ataxia, Substantia nigra hypointensity on susceptibi... |
OMIM:618868 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Frontotemporal dementia, Dementia, Gait disturbance, Dystonia, Loss of ambulation |
OMIM:167320 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Truncal ataxia, Gait ataxia, Cho... |
OMIM:618877 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia, Generalized hypotonia |
OMIM:617121 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Wide nasal bridge, Narrow mouth, Malar flattening, Abnormal palate ... |
ORPHA:2412 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Dementia, Gait disturbance, Shuffling gait, Dystonia, Menta... |
OMIM:168601 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia |
OMIM:619724 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive spastic quadriplegia, Progressive gait ataxia, Dementia, Progressive cerebellar ataxi... |
ORPHA:513436 |
| Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Abnormal cortical gyration, Choreoathetosis, Hypoplasia of the ventral pons,... |
ORPHA:2524 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Short nose, Narrow mouth |
ORPHA:1529 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
| Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Dystonia |
OMIM:610181 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Hypotonia, Spastic tetraplegia, Gait disturbance, Generalized hypotonia, Dystonia... |
OMIM:250100 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoathetosis, Blepharosp... |
ORPHA:101 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity |
OMIM:618917 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Hypogonadotropic hypogonadism, Postural tremor, Ataxia, Impaired distal proprioception,... |
ORPHA:447896 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Friedreich Ataxia |
|
Diabetes mellitus, Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, Li... |
ORPHA:95 |
| Mucolipidosis Iv |
|
Progressive neurologic deterioration, Hypotonia, Spastic tetraplegia, Hypergastrinemia, Generaliz... |
OMIM:252650 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Axial hypotonia, Ataxia, Spastic tetraparesis, U... |
ORPHA:35069 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Dementia, Gait disturbance, Dystonia, Memory impairment, Optic ataxia |
OMIM:607822 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia |
OMIM:614932 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Supernumerary tooth, Oligodontia, Juvenile cataract, Abnormality of the dentition |
ORPHA:1264 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Progressive spastic quadrip... |
ORPHA:309246 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Axial hypotonia, Ataxia, Hypotonia, Irritability, Generalized hypotonia, Dystonia |
OMIM:618226 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Dystonia |
ORPHA:139406 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Truncal ataxia, Cognitive impairment, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:252011 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Inability to walk, Oromandibular dystonia, Focal dystonia, Dementia... |
ORPHA:52368 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Impaired proprioception, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
| Kaya-Barakat-Masson Syndrome |
|
Axial hypotonia, Spastic tetraplegia, Irritability, Generalized hypotonia, Limb dystonia, Spasticity |
OMIM:619125 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:614464 |
| Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:610329 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Ga... |
OMIM:277460 |
| Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Hypotonia, Dystonia |
OMIM:615338 |
| Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Unsteady gait, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Perry Syndrome |
|
Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Dystonia, Short stepped shufflin... |
OMIM:168605 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Impaired distal proprioception, Rigidity, Impaired distal vibration sensation, Truncal ataxia, Li... |
OMIM:258450 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... |
ORPHA:915 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Progressive neurologic deterioration, Head titubation, Hypotonia, Truncal ataxia, Irritability, D... |
ORPHA:88639 |
| Marshall Syndrome |
|
Cataract, Micrognathia, Ectopia lentis, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:560 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea, Hy... |
ORPHA:70472 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Tremor, Progressive psychomotor deterioration, Hyperinsulinemia, Gait ataxia, Cognitive i... |
ORPHA:363400 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum |
ORPHA:93945 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Rigidity, Limb ataxia, Depress... |
ORPHA:227510 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia |
OMIM:618416 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Tremor, Rigidity, Foca... |
ORPHA:240103 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Ataxia, Dysmetria, Lower limb hypertonia, Difficulty walking, Dystonia, In... |
ORPHA:438114 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Emotional lability, Depressi... |
ORPHA:309271 |
| Baralle-Macken Syndrome |
|
Neonatal hypotonia, Inability to walk, Spasticity, Dystonia |
OMIM:619255 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Cognitive impairment, Dystonia, Limb hypert... |
ORPHA:70594 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Rigidity, Chorea, Hypotonia, Blepharospasm, Athetosis, Gait disturbance, Dystonia, Loss o... |
OMIM:617282 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Short attention span, Lower limb spasticity, Ataxia, Dysmetria, Arm... |
ORPHA:88644 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Partington Syndrome |
|
Lower limb spasticity, Gait disturbance, Limb dystonia |
ORPHA:94083 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Mental deterioration, Social and occupational deterioration, Bl... |
ORPHA:240071 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:619422 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors |
OMIM:618737 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia, Generalized hypotonia |
OMIM:619113 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spasticity |
ORPHA:313772 |
| Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Rigidity, Dementia, Shuffling gait, Cognitive impairment, Dystonia, Spa... |
ORPHA:171695 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Attention ... |
ORPHA:216866 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia |
ORPHA:97 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Akinesia, Rigidity, Tremor, Dementia, Spastic paraparesis, Mental deterioration |
OMIM:300894 |
| Harel-Yoon Syndrome |
|
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity |
OMIM:617183 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Cogwheel rigidity, Attention deficit hyperactivity disorder, Dyst... |
OMIM:619725 |
| Developmental And Epileptic Encephalopathy 38 |
|
Axial hypotonia, Ataxia, Irritability, Dystonia, Limb hypertonia |
OMIM:617020 |
| Spinocerebellar Ataxia Type 6 |
|
Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Dystonia, Intention tremor |
ORPHA:98758 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Decreased circulating lutei... |
ORPHA:453533 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia, Adrenal insufficiency |
OMIM:619025 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk |
OMIM:614970 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Hypotonia, Dystonia |
OMIM:246900 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Dysmetria, Dystonia, Intention tremor |
OMIM:616140 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Athetosis, Dystonia, Loss of ambulation, Spasticity, Intention tremor |
OMIM:617951 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ... |
OMIM:617988 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Limb tremor, Chore... |
OMIM:608643 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Depression, Gait ataxia, Progressive c... |
ORPHA:98933 |
| Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Dementia, Gait imbalan... |
ORPHA:2828 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Dystonia, Infantile axial hypotonia, Chorea, Titubation, Ga... |
ORPHA:225147 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Axial hypotonia, Chorea, Hypotonia, Simplified gyral pattern, Opisthotonus, Hypoplasia of the bra... |
OMIM:612389 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Inability to walk, Emotional lability, Irritability, Attention deficit hyperactivit... |
ORPHA:1929 |
| Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Generalized hypotonia, Molar tooth sign... |
OMIM:611560 |
| Sulfite Oxidase Deficiency, Isolated |
|
Axial hypotonia, Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Generalized hypotonia... |
OMIM:272300 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Depression, Blepharospasm, Limb dystonia, Lingual dystonia, La... |
ORPHA:93958 |
| Partington Syndrome |
|
Limb dystonia, Lower limb spasticity, Focal dystonia |
OMIM:309510 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypertonia, Dystonia, M... |
OMIM:610217 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Degeneration of anterior horn c... |
ORPHA:276244 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Generalized neonatal hypotonia, Dystonia |
ORPHA:352596 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Generalized hypotonia, Dystonia, Spasticity, Hypothyroidism |
OMIM:613970 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Hypotonia, Simplified gyral pattern, Generalized hypotonia, Truncal ataxia, Intention t... |
OMIM:614407 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Corneal opacity, Micrognathia |
OMIM:166300 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Spasticity, Limb hypertonia |
OMIM:618087 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Chorea, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
OMIM:618451 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Episodic ataxia |
OMIM:312170 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Progressive spastic paraparesis, Depression, Progressive spastic quadripleg... |
ORPHA:329308 |
| Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Spastic tetraparesis, Choreoathetosis, Hypertonia, Dystonia |
OMIM:308350 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Akinesia, Tremor, Rigidity, Chorea, Limb ataxia, Gait ata... |
ORPHA:48818 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia |
OMIM:602124 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... |
ORPHA:776 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum |
OMIM:619142 |
| Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Hypotonia, Gray matter heterotopia, Molar tooth sign on MRI |
OMIM:617563 |
| Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Upper limb postural tremor, Tremor, Frontotemporal dementia, Rigi... |
OMIM:612953 |
| Cimdag Syndrome |
|
Ataxia, Chorea, Hypotonia, Pontocerebellar atrophy, Hypogonadism, Dystonia, Spasticity, Polymicro... |
OMIM:619273 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
| Continuous Spikes And Waves During Sleep |
|
Motor deterioration, Cognitive impairment, Dystonia |
ORPHA:725 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Broad-based gait, Hypertonia, Dementia, Arm dystonia, Gait disturbance, Diff... |
ORPHA:79244 |
| Joubert Syndrome 3 |
|
Frontal polymicrogyria, Ataxia, Hypotonia, Molar tooth sign on MRI, Elongated superior cerebellar... |
OMIM:608629 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Inability to walk, Hypotonia, Irritability, Athetosis... |
OMIM:612073 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate |
OMIM:300676 |
| Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Tremor, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity |
ORPHA:765 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Axial hypotonia, Spastic tetraparesis, Simplified gyral pattern, Hypotonia, Dystonia |
OMIM:617668 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, ... |
ORPHA:309256 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Torticollis, Inability to walk, Spastic tetraplegia, Spasti... |
ORPHA:300570 |
| Choreoacanthocytosis |
|
Emotional lability, Progressive choreoathetosis, Dementia, Dystonia |
OMIM:200150 |
| Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Dystonia |
OMIM:230650 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Dystonia |
ORPHA:98757 |
| Machado-Joseph Disease Type 1 |
|
Substantia nigra gliosis, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Memor... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Substantia nigra gliosis, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Memor... |
ORPHA:276241 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Decerebrate... |
ORPHA:309263 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dyston... |
OMIM:614381 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Microdon... |
ORPHA:231178 |
| Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity |
ORPHA:621 |
| Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Ataxia, Abnormality of thyroid physiology, Spastic tetraplegia, Choreoathetosis,... |
ORPHA:59 |
| Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Spasticity, Tremor, Dystonia |
OMIM:304700 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:606002 |
| Joubert Syndrome With Renal Defect |
|
Ataxia, Tremor, Hypotonia, Gait disturbance, Molar tooth sign on MRI, Abnormality of the hypothal... |
ORPHA:220497 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia,... |
OMIM:617710 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit... |
ORPHA:1811 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Generalized hypotonia |
OMIM:618161 |
| Episodic Ataxia, Type 2 |
|
Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Dystonia |
OMIM:108500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Axial hypotonia, Progressive neurologic deterioration, Simplified gyral pattern, Irritability, Ge... |
OMIM:618253 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Chorea, Hypotonia, Hypertoni... |
OMIM:272750 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Rigidity, Truncal ataxia, Limb ataxia, Progressive cerebell... |
OMIM:109150 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... |
ORPHA:79113 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... |
ORPHA:420485 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Precocious puberty, Tremor, Inabili... |
ORPHA:845 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Hypertonia, Infantile muscular hypotonia |
ORPHA:26792 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:619616 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Elevated circula... |
OMIM:610978 |
| Myopathy With Extrapyramidal Signs |
|
Ataxia, Tremor, Chorea, Perisylvian polymicrogyria, Hypotonia, Choreoathetosis, Difficulty walkin... |
OMIM:615673 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Choreoathetosis, Gait imbalance, Head tremo... |
ORPHA:64753 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Irritability, Spasticity, Generalized dystonia |
OMIM:618235 |
| Hengel-Maroofian-Schols Syndrome |
|
Inability to walk, Hypotonia, Gait imbalance, Dystonia, Spasticity |
OMIM:619641 |
| Joubert Syndrome 6 |
|
Ataxia, Hypotonia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cereb... |
OMIM:610688 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Rieger anomaly, Abnormally prominent line of Schwalbe |
OMIM:109120 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:614739 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Gray matter heterotopia, Hypotonia |
OMIM:617622 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Chorea, Hypotonia, Dystonia |
ORPHA:289916 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Conjunctival hyperemia, Wide nasal bridge |
OMIM:167730 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Rigidity, Dementia, Limb dystonia, Mental deterioration, Spasticity |
OMIM:616840 |
| Liang-Wang Syndrome |
|
Axial hypotonia, Ataxia, Dystonia |
OMIM:618729 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
| Slc35A2-Cdg |
|
Axial hypotonia, Abnormal midbrain morphology, Spastic tetraparesis, Precocious puberty, Inabilit... |
ORPHA:356961 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Dystonia, Limb hypertonia |
OMIM:618004 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:616034 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Atrophy/Degeneration affecting... |
ORPHA:171629 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Depression, Gait ataxia,... |
ORPHA:93256 |
| Rett Syndrome, Congenital Variant |
|
Chorea, Simplified gyral pattern, Irritability, Athetosis, Generalized hypotonia, Dystonia, Neona... |
OMIM:613454 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Short nose |
OMIM:122880 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Generalized hypotonia, Dystonia |
OMIM:618230 |
| Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Dystonia |
ORPHA:85278 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Abn... |
OMIM:616113 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Hypoplasia of the pons, Patent ductus arteriosus, Spastic t... |
OMIM:619909 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Hypotonia |
OMIM:619582 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Keratitis, Carious teeth, Conjunctivitis, Enamel hypoplasia |
OMIM:612843 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Akinesia, Rigidity, Depression, Dementia, Low frustration tolerance, Shuffling ga... |
ORPHA:411602 |
| Joubert Syndrome With Ocular Defect |
|
Ataxia, Tremor, Hypotonia, Gait disturbance, Molar tooth sign on MRI, Abnormality of the hypothal... |
ORPHA:220493 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity |
ORPHA:702 |
| Joubert Syndrome 8 |
|
Ataxia, Hypotonia, Hypertonia, Generalized hypotonia, Molar tooth sign on MRI |
OMIM:612291 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Tremor, Paucity of anterior h... |
ORPHA:79139 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Wide nasa... |
ORPHA:950 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
| Rett Syndrome |
|
Dystonia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Motor deterioration |
OMIM:312750 |
| Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Limb ataxia, Choreoathetosis, Appendicular hypotonia, Difficul... |
OMIM:617595 |
| Parkinson Disease 20, Early-Onset |
|
Rigidity, Tremor, Gait disturbance, Shuffling gait, Dystonia, Mental deterioration, Short stepped... |
OMIM:615530 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Hypotonia, Dystonia, Polymicrogyria |
ORPHA:79243 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Severe muscular hypotonia, Ataxia, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogni... |
ORPHA:25 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology |
ORPHA:1540 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... |
ORPHA:102 |
| Combined Malonic And Methylmalonic Acidemia |
|
Memory impairment, Axial hypotonia, Dystonia |
ORPHA:289504 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Short nose, High palate, Wide nasal bridge |
OMIM:218000 |
| Dystonia-Deafness Syndrome 1 |
|
Loss of ambulation, Leg dystonia, Generalized dystonia, Oculogyric crisis |
OMIM:607371 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia |
ORPHA:319514 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe mu... |
ORPHA:438216 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Conjunctivitis, Iris coloboma, Narrow palate |
ORPHA:207 |
| Joubert Syndrome 14 |
|
Ataxia, Hypotonia, Irritability, Hypoplasia of the brainstem, Generalized hypotonia, Molar tooth ... |
OMIM:614424 |
| Treacher-Collins Syndrome |
|
Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia... |
ORPHA:861 |
| Gaucher Disease Type 2 |
|
Spasticity, Dystonia |
ORPHA:77260 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... |
OMIM:170390 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Irritabi... |
OMIM:618321 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Cataract, Abnormal dental morphology, Hypop... |
ORPHA:192 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| X-Linked Creatine Transporter Deficiency |
|
Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum |
ORPHA:228396 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Inability to walk, Hypotonia, Athetosis, Dystonia, Spasticity, Pachygyria |
ORPHA:357058 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velopharyngeal insuffic... |
OMIM:129400 |
| Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
| Alg3-Cdg |
|
Spastic tetraparesis, Abnormality of the endocrine system, Hypoplasia of the pons, Hypotonia, Hyp... |
ORPHA:79321 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Hypoplasia of the pons, Simplified gyral pattern, Dystonia |
OMIM:617669 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:617268 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Metachromatic Leukodystrophy |
|
Ataxia, Tremor, Dementia, Gait disturbance, Decerebrate rigidity, Progressive spasticity, Dystoni... |
ORPHA:512 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Astigmatism |
ORPHA:2095 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology |
ORPHA:93262 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Spastic diplegia, Generalized hypotonia, Dystonia |
ORPHA:480907 |
| Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, Dystonia, Neonatal h... |
ORPHA:66634 |
| Niemann-Pick Disease, Type C1 |
|
Ataxia, Hypotonia, Gait ataxia, Dementia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:257220 |
| Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Unsteady gait, Gait disturbance, Cognitive impairment, Oromandibular dystonia |
ORPHA:412217 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Wide nasal ... |
ORPHA:178303 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Dystonia, Opisthotonus |
OMIM:277470 |
| Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... |
ORPHA:245 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Spasticity, Ataxia, Dystonia |
OMIM:617341 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis... |
ORPHA:466722 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dystonia, Loss of ambulation |
ORPHA:391428 |
| Isolated Atp Synthase Deficiency |
|
Ataxia, Spastic paraplegia, Hypotonia, Hypogonadism, Dystonia, Hypothyroidism |
ORPHA:254913 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
| Coach Syndrome 1 |
|
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Molar tooth sign on MRI, Spasticity |
OMIM:216360 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Hypoplasia ... |
OMIM:211380 |
| Lipoyltransferase 1 Deficiency |
|
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:616299 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Hypotonia, Dystonia |
ORPHA:79312 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Dystonia, Hypotonia, Depression, Irritability, Dysdiadochokinesis, Type II diab... |
OMIM:618891 |
| Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617873 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, De... |
OMIM:309520 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
| Developmental And Epileptic Encephalopathy 86 |
|
Generalized hypotonia, Dystonia |
OMIM:618910 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... |
OMIM:618280 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Rigidity, Irritability, Falls, Gait imbalance, Retroco... |
OMIM:609454 |
| Hypermanganesemia With Dystonia 1 |
|
Tremor, Rigidity, Steppage gait, Dystonia, Spastic paraparesis |
OMIM:613280 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
| Siddiqi Syndrome |
|
Limb dystonia |
OMIM:618635 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:614654 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
| Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Hypotonia, Abnormality of neuronal migration, Molar tooth sign on MRI, Abnormality of the... |
ORPHA:2318 |
| Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:231670 |
| Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Rigidity, Irritability, Falls, Gait imbalance, Retrocollis, Lim... |
OMIM:601104 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Short nose |
OMIM:101600 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Caribbean Parkinsonism |
|
Rigidity, Frontal lobe dementia, Progressive gait ataxia, Dementia, Dystonia, Action tremor |
ORPHA:97355 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Dystonia, Ataxia, Tremor, Patent ductus arteriosus, Unsteady gait, Hypotoni... |
ORPHA:354 |
| Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... |
OMIM:105830 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypoplasia of the brainstem, Difficult... |
ORPHA:572798 |
| Rett Syndrome |
|
Inability to walk, Gait disturbance, Increased serum leptin, Dystonia, Difficulty walking, Infant... |
ORPHA:778 |
| Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Oculogyric crisis, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:208447 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short attention span, Ataxia, Abnor... |
ORPHA:209905 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Axial hypotonia, Hypotonia, Hypertonia, Gait disturbance, Attention deficit hyp... |
OMIM:300352 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
| Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Keratitis, Hypoplasia of the maxilla, Conjunctivitis, Hig... |
OMIM:123500 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:615108 |
| Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Corneal erosion, Wide nasal bridge, Oligodontia, Short philtrum, Thick... |
OMIM:609460 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... |
ORPHA:431361 |
| Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
| Leber Optic Atrophy |
|
Postural tremor, Ataxia, Dystonia |
OMIM:535000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Keratoconjunctivitis sicca, Delayed eruption of pe... |
OMIM:620370 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Dystonia |
OMIM:300475 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Generalized hypotonia |
OMIM:615665 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Simplified gyral pattern, Spasticity, Hypotonia, Dystonia |
OMIM:619286 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Dementia, Dystonia |
OMIM:607236 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Hypotonia, Truncal ataxia, Athetosis, G... |
OMIM:615356 |
| Frontorhiny |
|
Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Bifid tongue, Iri... |
ORPHA:391474 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Dystonia, Mental deterioration |
OMIM:616672 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Curved linear dimple... |
OMIM:305400 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Dystonia, Polymicrogyria, Intention t... |
OMIM:619708 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Tremor, Rigidity, Depression, Choreoathetosis, Blepharospasm, Dementia, Gait di... |
OMIM:234200 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Short nose, Cleft palate |
OMIM:614261 |
| Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:615109 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Abnormal heart morphology, Hepatosplenomegaly, N... |
ORPHA:505248 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Hypotonia, Dystonia |
ORPHA:439218 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Premature thelarche, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Gait disturbance... |
OMIM:616878 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... |
ORPHA:293939 |
| Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Chorea, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the maxilla, Microspherophakia, Narrow palate, Shallow an... |
OMIM:277600 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:193 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Carious ... |
OMIM:265800 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm |
OMIM:606324 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
| Aicardi-Goutieres Syndrome 4 |
|
Spasticity, Dystonia |
OMIM:610333 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal midbrain ... |
ORPHA:68 |
| Developmental And Epileptic Encephalopathy 51 |
|
Inability to walk, Hypotonia, Dystonia |
OMIM:617339 |
| Carpenter Syndrome 1 |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet... |
OMIM:201000 |
| Martsolf Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Developmental cataract, High palate, Short phi... |
OMIM:212720 |
| Pseudo-Torch Syndrome 1 |
|
Axial hypotonia, Patent ductus arteriosus, Hypotonia, Lissencephaly, Dystonia, Spasticity, Pachyg... |
OMIM:251290 |
| Mcleod Syndrome |
|
Chorea, Dystonia, Impaired vibration sensation at ankles, Depression |
OMIM:300842 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Conical tooth, Carious teeth, Conjunctivitis, Hypodontia, Microdontia |
OMIM:620192 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Hypotonia, Dystonia |
OMIM:616977 |
| Orofaciodigital Syndrome Type 6 |
|
Ataxia, Tremor, Hypotonia, Abnormality of neuronal migration, Gait disturbance, Generalized hypot... |
ORPHA:2754 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Hypoplasia of the maxilla, Submucous ... |
ORPHA:2588 |
| Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity |
OMIM:616339 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Progressive neurologic deterioration, Tr... |
ORPHA:646 |
| Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, Wide nasal bri... |
OMIM:608156 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Diastem... |
OMIM:300534 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Narrow philt... |
OMIM:601812 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge, Conjunctivitis |
OMIM:615560 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Neonatal hypotonia, Spasticity |
OMIM:616271 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide nasal bridge |
OMIM:614886 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Attention deficit hyperactivity disorder, Cognitive impairment, Depression |
ORPHA:98784 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Corneal dystrophy, Hypoplasia of the maxilla, High, narrow palate, Long ph... |
ORPHA:1101 |
| Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Neonatal hypotonia, Chorea, Hypothyroidism, Dystonia |
OMIM:618829 |
| Nmda Receptor Encephalitis |
|
Short attention span, Confusion, Oculogyric crisis, Neoplasm of the thymus, Rigidity, Chorea, Dep... |
ORPHA:217253 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
| Filippi Syndrome |
|
Dystonia |
OMIM:272440 |
| Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Narrow mouth, Thick lower lip vermilion, Micrognathia |
OMIM:613804 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:238468 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Axial hypotonia, Generalized dystonia, Ataxia, Patent ductus arteriosus, Opisthotonus, Irritabili... |
OMIM:618076 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Hypoplasia of the maxilla, Microspherophak... |
OMIM:608328 |
| Joubert Syndrome 2 |
|
Ataxia, Brainstem dysplasia, Hypotonia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elo... |
OMIM:608091 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Thin vermilion border, High palate, Long philtrum, Smooth philtrum |
ORPHA:481152 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Dystonia, Ataxia, Tremor, Inability to walk, Choreoatheto... |
OMIM:208900 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Spasticity, Hypotonia, Dystonia |
OMIM:614702 |
| Cerebrotendinous Xanthomatosis |
|
Short attention span, Resting tremor, Dystonia, Ataxia, Somatic sensory dysfunction, Abnormal cer... |
ORPHA:909 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:277410 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:615546 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Hypotonia, Dystonia |
OMIM:614105 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Spasticity, Axial hypotonia, Dystonia |
ORPHA:500144 |
| Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:158350 |
| Aicardi-Goutieres Syndrome 1 |
|
Axial hypotonia, Diabetes insipidus, Inability to walk, Dystonia, Spasticity, Hypothyroidism |
OMIM:225750 |
| Leigh Syndrome |
|
Dystonia, Ataxia, Progressive neurologic deterioration, Abnormal brainstem MRI signal intensity, ... |
ORPHA:506 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Corneal erosion, Nar... |
ORPHA:87 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Gait disturbance, Dystonia |
OMIM:617903 |
| H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
| Aicardi-Goutieres Syndrome 9 |
|
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Irritability, Lower... |
OMIM:619487 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch |
OMIM:616462 |
| Lesch-Nyhan Syndrome |
|
Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Spasticity, Testicular atrophy |
OMIM:300322 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Generalized hypotonia, Dystonia |
OMIM:607906 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Cleft upper lip, Wide nasal bridge, Cleft palate, Downturned corner... |
OMIM:265050 |
| Stickler Syndrome |
|
Cataract, Abnormal dental enamel morphology, Ectopia lentis, Micrognathia, Hypoplasia of the maxi... |
ORPHA:828 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Inability to walk, Chorea, Hypotonia, Dystonia |
OMIM:617804 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:619111 |
| Galloway-Mowat Syndrome 1 |
|
Axial hypotonia, Ataxia, Hypotonia, Spastic tetraplegia, Hypoplasia of the brainstem, Dystonia, S... |
OMIM:251300 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Irritability, H... |
ORPHA:1578 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Axial hypotonia, Limb dystonia |
OMIM:620269 |
| Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Hypoton... |
ORPHA:2131 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Spastic paraplegia |
OMIM:619026 |
| Adult-Onset Dystonia-Parkinsonism |
|
Tremor, Frontotemporal dementia, Rigidity, Focal dystonia, Depression, Dystonia, Spasticity |
ORPHA:199351 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Truncal ataxia, Dysdiadochokinesis, Hypertonia, Gait disturbance, Difficulty walking, D... |
ORPHA:309854 |
| Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Retrognathia, Micrognathia |
OMIM:608149 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Simplified gyral pattern, Dystonia, Type I diabetes mellitus, Spasticity, Pachygyria |
OMIM:618397 |
| Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Generalized hypotonia |
OMIM:619185 |
| Idiopathic Camptocormia |
|
Frontotemporal dementia, Abnormal pons morphology, Amyotrophic lateral sclerosis, Dystonia |
ORPHA:1320 |
| Joubert Syndrome 1 |
|
Ataxia, Brainstem dysplasia, Hypotonia, Hypoplasia of the brainstem, Generalized hypotonia, Molar... |
OMIM:213300 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dystonia, Ataxia, Tremor, Patent ductus arteriosus, Hypotonia, Generalized hypotonia, Cognitive i... |
OMIM:610505 |
| Niemann-Pick Disease, Type C2 |
|
Ataxia, Hypotonia, Dementia, Dystonia, Spasticity |
OMIM:607625 |
| Kufor-Rakeb Syndrome |
|
Short attention span, Confusion, Oculogyric crisis, Rigidity, Blepharospasm, Dementia, Hypertonia... |
ORPHA:306674 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... |
OMIM:101800 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Nephrogenic diabetes insipidus, Hypotonia, Dystonia, Central diabetes insipidus, Diabetes insipidus |
OMIM:620167 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of the f... |
ORPHA:306542 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Hypotonia, Dystonia |
OMIM:619167 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Dystonia |
OMIM:617762 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... |
ORPHA:116 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Dystonia, Ataxia, Tremor, Spastic diplegia, Gait disturbance, Gait imbalance, Generalized hypoton... |
OMIM:300966 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Short nose, Cataract, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Spastic tetraparesis, Dystonia |
ORPHA:404451 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity... |
OMIM:617557 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth |
ORPHA:314679 |
| Wieacker-Wolff Syndrome |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:314580 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetraplegia, Dystonia |
ORPHA:3240 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Micrognathia,... |
OMIM:259600 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... |
ORPHA:1299 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Tremor, Attention deficit hyperactivity disorder, Neonatal hypotonia |
OMIM:619680 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Hypotonia, Difficulty walking, Dystonia |
OMIM:618222 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis |
OMIM:231070 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
OMIM:619476 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Dystonia, Axial hypotonia, Generalized hypotonia, Limb hypertonia |
OMIM:616875 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261197 |
| Alobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:220386 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Generalized dystonia, Spastic tetraparesis, Dystonia |
OMIM:620358 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Dystonia |
OMIM:618186 |
| Triosephosphate Isomerase Deficiency |
|
Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity |
OMIM:615512 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Limb dystonia, Spasticity |
OMIM:619847 |
| Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Resting tremor, Impaired vibratory sensation, Head titubation... |
ORPHA:2388 |
| Propionic Acidemia |
|
Dystonia, Axial hypotonia, Limb hypertonia |
OMIM:606054 |
| Van Den Ende-Gupta Syndrome |
|
Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clef... |
OMIM:600920 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Neonatal hypotonia, Spasticity, L... |
ORPHA:457351 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Choreoathetosis, Ataxia, Hypotonia, Dystonia |
OMIM:615471 |
| Dyskeratosis Congenita |
|
Cataract, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Pe... |
ORPHA:1775 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless frac... |
OMIM:256810 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Abnormal cortical gyration, Rigidity, Hypotonia, Progressive spasti... |
ORPHA:521426 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Progressive spasticity, Dystonia, Spasticity, Infantile muscular hypotonia |
ORPHA:496641 |
| Wilson Disease |
|
Hypoparathyroidism, Dystonia, Tremor, Rigidity, Hypoesthesia, Hand tremor, Face of the giant pand... |
OMIM:277900 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Mental deterioration, Generalized dystonia |
ORPHA:79107 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Gingival overgrow... |
OMIM:602535 |
| Mercury Poisoning |
|
Tremor, Confusion, Dystonia |
ORPHA:330021 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
| Arima Syndrome |
|
Ataxia, Brainstem dysplasia, Hypotonia, Gray matter heterotopia, Hypoplasia of the brainstem, Gen... |
OMIM:243910 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Dystonia, Mental deterioration, Spasticity |
OMIM:612199 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no... |
OMIM:615873 |
| Monosomy 18P |
|
Generalized dystonia, Hypothyroidism, Hypotonia |
ORPHA:1598 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... |
OMIM:166250 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic t... |
ORPHA:51 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cataract, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of... |
OMIM:603457 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypertonia, Compensated hypothyroidism, Ataxia, Dystonia |
ORPHA:480864 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Patent ductus arteriosus, Hypotonia, Spastic tetraplegia, Gray matter het... |
OMIM:620024 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Intention tremor, Ataxia, Depression, Cognitive impairment, Delayed puberty, Emotiona... |
OMIM:619475 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:600901 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Impaired pain ... |
ORPHA:293987 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal bridge, Gingival overgrowth,... |
OMIM:213980 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Dystonia, Inability to walk, Hypotonia, Congenital hypothyroidism, Attention deficit hyperactivit... |
OMIM:616973 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide mouth, Long philtrum |
ORPHA:251061 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
| Joubert Syndrome 5 |
|
Ataxia, Hypotonia, Generalized hypotonia, Molar tooth sign on MRI, Thickened superior cerebellar ... |
OMIM:610188 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Popliteal pterygium, Oral... |
OMIM:263650 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short attention span, Patent ductus arteriosus, Unsteady gait, Choreoathetosis, Hypertonia, Dysto... |
ORPHA:17 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227650 |
| Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Hypoplasia of the maxilla, Corneal erosion, Wide mouth, Thin vermilion border, H... |
ORPHA:920 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
ORPHA:1252 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
| Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
| Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal pituitary gland morphology, Abnormal midbrain morphology |
ORPHA:314621 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal hypotonia, Patent ductus arteriosus, Dystonia |
ORPHA:457193 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Chorea, Gait ataxia, Hypertonia, Dystonia, Spasticity, Infantile muscular hypotonia |
ORPHA:255210 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate |
OMIM:182212 |
| Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology, Limb hypertonia |
ORPHA:444072 |
| Fucosidosis |
|
Hypotonia, Spastic tetraplegia, Dystonia, Mental deterioration, Spastic gait |
OMIM:230000 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Tremor, Choreoathetosis, Dystonia, Episodic ataxia, Spasticity, Pachygyria, I... |
ORPHA:1934 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227645 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Short philtrum, Cleft palate |
ORPHA:96129 |
| Filippi Syndrome |
|
Spasticity, Hypotonia, Limb dystonia |
ORPHA:3255 |
| Cadds |
|
Adrenal hypoplasia, Dystonia |
ORPHA:369942 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Narrow palate, Cleft palate, Open bite |
ORPHA:794 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... |
ORPHA:2673 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia |
OMIM:614924 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth |
OMIM:613803 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... |
OMIM:312870 |
| Lipoid Proteinosis |
|
Dystonia |
ORPHA:530 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypotonia, Limb dystonia |
OMIM:604377 |
| Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Irritability, Hypertonia... |
OMIM:615846 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Dystonia, Infantile muscular hypotonia |
ORPHA:522077 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Precocious puberty, Spastic tetraplegia... |
OMIM:619950 |
| Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Cataract, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hig... |
OMIM:180849 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Hypotonia, Tip-toe gait, Generalized hypotonia, Dystonia |
ORPHA:3008 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Decerebrate rigidity, Dystonia, Spasticity, Infantile muscular hypo... |
ORPHA:79255 |
| Zttk Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Wide nasal ... |
OMIM:617140 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
| Microphthalmia With Limb Anomalies |
|
Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Micrognath... |
ORPHA:1106 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Inability to walk, Ataxia, Hypotonia, Dystonia |
OMIM:620083 |
| Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Cataract, Hypoplasia of the maxilla, Cleft lip, ... |
OMIM:139210 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Spastic tetraplegia |
OMIM:619306 |
| Holoprosencephaly |
|
Diabetes mellitus, Chorea, Panhypopituitarism, Hypotonia, Spasticity, Abnormality of neuronal mig... |
ORPHA:2162 |
| Orofaciodigital Syndrome Vi |
|
Hypotonia, Generalized hypotonia, Molar tooth sign on MRI, Periventricular nodular heterotopia, P... |
OMIM:277170 |
| Shprintzen-Goldberg Syndrome |
|
Hypoplasia of the maxilla, High, narrow palate, Retrognathia, Micrognathia |
ORPHA:2462 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:618947 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Facial hypotonia, Inability to walk, Chorea, Athetosis, Dystonia, Lingual dystonia, Action tremor |
ORPHA:404454 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227646 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... |
OMIM:129900 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Cataract, Cleft palate, Cleft upper lip |
OMIM:304050 |
| Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Thick vermilion border, High palate, Narro... |
OMIM:224690 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Unil... |
OMIM:610828 |
| Developmental And Epileptic Encephalopathy 89 |
|
Spasticity, Hypertonia, Axial hypotonia, Dystonia |
OMIM:619124 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... |
OMIM:604292 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Polymicrogyria, Generalized hypotonia |
OMIM:616546 |
| Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
| Hermansky-Pudlak Syndrome 10 |
|
Axial hypotonia, Generalized hypotonia, Dystonia |
OMIM:617050 |
| Slc39A8-Cdg |
|
Inability to walk, Severe muscular hypotonia, Dystonia |
ORPHA:468699 |
| Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Stillbirth, Neonatal death, Retrognathia |
OMIM:215140 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Pain insensitivity |
OMIM:619562 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Cleft of chin, Narrow palate, Cleft palate, Buphthalmos, Ma... |
OMIM:101400 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
| Mogs-Cdg |
|
Inappropriate antidiuretic hormone secretion, Dystonia, Hypothyroidism, Infantile muscular hypotonia |
ORPHA:79330 |
| Floating-Harbor Syndrome |
|
Persistence of primary teeth, Long nose, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Ol... |
ORPHA:2044 |
| Chromosome 18P Deletion Syndrome |
|
Hypotonia, Dystonia |
OMIM:146390 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Generalized hypotonia |
ORPHA:397715 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Short philtrum, Cleft palate, Cleft upper lip |
ORPHA:50 |
| Beta-Ureidopropionase Deficiency |
|
Neonatal hypotonia, Hypotonia, Dystonia |
OMIM:613161 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Irritability, Axial hypotonia, Dystonia |
OMIM:618278 |
| Peters-Plus Syndrome |
|
Thin upper lip vermilion, Cataract, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupi... |
OMIM:261540 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Narrow mouth, Mal... |
OMIM:617402 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Decreased response to growth hormone stimulation test, Tremor, H... |
ORPHA:506358 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
| Arboleda-Tham Syndrome |
|
Axial hypotonia, Patent ductus arteriosus, Hypotonia, Lower limb hypertonia, Gait imbalance, Gene... |
OMIM:616268 |
| Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Delirium |
ORPHA:94093 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Patent ductus arteriosus, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:617248 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Hypotonia, Small pituitary gland |
OMIM:619479 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Patent ductus arteriosus |
OMIM:616300 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Broad-based gait, Pain insensitivity, Hypotonia, Attention deficit hyperactivity disorder, Dyston... |
OMIM:620330 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dystonia |
ORPHA:79233 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, High palate, Micrognathia |
OMIM:614437 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Tremor, Hypotonia, Dysmetria, Truncal ataxia, Simplified gyral pattern, Dystonia, Spasticity |
OMIM:220111 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Broad-based gait, Abnormality of the endocrine system, Pr... |
ORPHA:438213 |
| Legius Syndrome |
|
Short attention span, Dystonia, Hypotonia, Attention deficit hyperactivity disorder, Cognitive im... |
ORPHA:137605 |
| Orofaciodigital Syndrome Type 1 |
|
Tremor, Ataxia, Dystonia |
ORPHA:2750 |
| Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain |
OMIM:616202 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Thin ver... |
ORPHA:500150 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Thick lower lip vermilion, Wide nasal bridge, Downturned corners of mo... |
OMIM:259050 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
| Meckel Syndrome, Type 1 |
|
Axial hypotonia, Adrenal hypoplasia, Patent ductus arteriosus, Hypotonia, Molar tooth sign on MRI |
OMIM:249000 |
| Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Patent ductus arteriosus, Simplified gyral pattern, Generalized hypo... |
OMIM:615948 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
| Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Patent ductus arteriosus, Hypotonia, Periventricular heterotopia |
ORPHA:434179 |
| Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Transverse facial cleft, Cleft palate, ... |
OMIM:164210 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Dystonia |
ORPHA:90349 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon |
OMIM:601374 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Spasticity, Dystonia, Limb dystonia |
OMIM:175780 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
