Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Abnormal salivary gland morphology |
ORPHA:3225 |
Familial Congenital Mirror Movements |
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Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
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Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Abnormal pyramidal tract morphology |
ORPHA:356 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Corticospinal tract atrophy |
OMIM:551500 |
Brooke-Spiegler Syndrome |
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Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal pyramidal tract morphology |
ORPHA:83629 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
Spastic Paraplegia 2, X-Linked |
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Degeneration of the lateral corticospinal tracts |
OMIM:312920 |
Adult Krabbe Disease |
|
Abnormal pyramidal tract morphology, Abnormal corticospinal tract morphology |
ORPHA:206448 |
Spastic Paraplegia 8, Autosomal Dominant |
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Degeneration of the lateral corticospinal tracts |
OMIM:603563 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts |
OMIM:600363 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts |
OMIM:105400 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts |
OMIM:182600 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:320355 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:444099 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Degeneration of the lateral corticospinal tracts |
OMIM:182601 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:171863 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:171612 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology, Degeneration of the lateral corticospinal tracts |
ORPHA:275872 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Agenesis of corpus callosum, Degeneration of the lateral corticospinal tracts |
OMIM:604360 |
Narp Syndrome |
|
Corticospinal tract atrophy |
ORPHA:644 |
Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... |
ORPHA:449432 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:100989 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:100999 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:171617 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts |
OMIM:607259 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum |
ORPHA:255138 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... |
ORPHA:64744 |
Al Amyloidosis |
|
Macroglossia, Abnormal salivary gland morphology, Xerostomia |
ORPHA:85443 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Degeneration of the lateral corticospinal tracts |
ORPHA:100993 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali... |
ORPHA:79078 |
Smith-Magenis Syndrome |
|
Corticospinal tract hypoplasia |
ORPHA:819 |
Melioidosis |
|
Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agenesis of corpus callosum, Hypoplasia of the pyramidal tract |
OMIM:253800 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... |
ORPHA:2298 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Tip-toe gait, Gait disturbance, Spastic gait |
ORPHA:100984 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
Adrenomyeloneuropathy |
|
Atrophy/Degeneration involving the corticospinal tracts |
ORPHA:139399 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Abnormal salivary gland morphology |
OMIM:181000 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Colon cancer, Sialaden... |
ORPHA:449563 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary |
ORPHA:449395 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Williams Syndrome |
|
Cryptorchidism, Atrophy/Degeneration involving the corticospinal tracts |
ORPHA:904 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Oral ulcer |
ORPHA:50918 |
Sarcoidosis |
|
Enlargement of parotid gland, Enlarged lacrimal glands, Parotitis |
ORPHA:797 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Steppage gait, Gait imbalance |
ORPHA:36386 |
Neuropathy, Hereditary Sensory, Type Id |
|
Autoamputation of digits |
OMIM:613708 |