Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Huntington Disease |
|
Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Mental deteriora... |
ORPHA:399 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... |
ORPHA:2828 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Polyphagia |
OMIM:617885 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Anosmia, Dementia, Gait disturbance, Dysphagia, Hyposmia |
OMIM:606693 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Akinesia, Mental deterioration, Depression, Dementia, Agitation, Shuffling gait, Low... |
ORPHA:411602 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia |
OMIM:613724 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Total anosmia |
OMIM:614879 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose |
OMIM:614838 |
Bardet-Biedl Syndrome 17 |
|
Hyposmia, Polydipsia, Anosmia, Cognitive impairment |
OMIM:615994 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:612702 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:610628 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia |
OMIM:615996 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:244200 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
Gorlin Syndrome |
|
Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Anosmia, Choanal atresia |
OMIM:147950 |
Superficial Siderosis |
|
Ataxia, Partial anosmia, Unsteady gait, Anosmia, Limb ataxia, Dysmetria, Progressive gait ataxia,... |
ORPHA:247245 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Dementia |
OMIM:607060 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Steppage gait, Anosmia |
OMIM:601152 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Refsum Disease, Classic |
|
Anosmia, Ataxia |
OMIM:266500 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anosmia |
OMIM:243000 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:614897 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hyposmia, Anosmia, Ataxia |
OMIM:308700 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Abnormality of the sense of smell |
OMIM:616113 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Ataxia |
OMIM:308750 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia |
ORPHA:2316 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Refsum Disease |
|
Anosmia, Ataxia |
ORPHA:773 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Anosmia |
ORPHA:3157 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Kallmann Syndrome |
|
Hyposmia, Anosmia, Ataxia, Gait disturbance |
ORPHA:478 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Moebius Syndrome |
|
Abnormality of the sense of smell, Dysphagia |
ORPHA:570 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Meningioma |
|
Ataxia, Abnormality of the sense of smell, Memory impairment, Transient global amnesia, Cognitive... |
ORPHA:2495 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Confusion, Irritability, Hyposmia |
ORPHA:68 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa... |
ORPHA:2162 |
Wilson Disease |
|
Hyposmia, Dementia, Dysphagia |
OMIM:277900 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hyposmia, Anosmia, Absent nares, Single naris |
ORPHA:2250 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
8P11.2 Deletion Syndrome |
|
Anosmia, Depressed nasal bridge |
ORPHA:251066 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell, Dysphagia |
ORPHA:198 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia, Ataxia |
OMIM:609136 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Charge Syndrome |
|
Depressed nasal bridge, Choanal atresia, Anosmia, Compulsive behaviors, Attention deficit hyperac... |
ORPHA:138 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia |
OMIM:619718 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
Leopard Syndrome 1 |
|
Hyposmia, Depressed nasal ridge |
OMIM:151100 |
Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
Lacrimoauriculodentodigital Syndrome |
|
Anosmia, Choanal atresia, Dysphagia |
ORPHA:2363 |
Charge Syndrome |
|
Anosmia, Choanal atresia, Self-mutilation, Dysphagia |
OMIM:214800 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
|
ORPHA:329466 |
Dystonia 25 |
|
|
OMIM:615073 |