| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Depressed nasal bridge, Decreased activity of mitochondrial ATP synthase complex, Decreased activ... |
OMIM:618378 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell |
OMIM:146110 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Gait disturbance, Difficulty walking |
ORPHA:352470 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... |
OMIM:500013 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614858 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Azoospermia |
OMIM:613724 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose, Decreased testicular size |
OMIM:614838 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
| Huntington Disease |
|
Inability to walk, Abnormality of the sense of smell, Gait disturbance, Gait imbalance, Difficult... |
ORPHA:399 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:610628 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Abnormal mitochondrial morphology |
OMIM:300438 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Total anosmia |
OMIM:614879 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:612370 |
| Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
| Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
| Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
| Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Anosmia |
OMIM:612702 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cryptorchidism, Anosmia, Hyposmia, Agenesis of corpus callosum |
OMIM:147950 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Spastic Paraplegia Type 7 |
|
Spastic gait, Abnormal mitochondrial morphology |
ORPHA:99013 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia |
OMIM:617885 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Anosmia |
OMIM:244200 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size |
OMIM:614897 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614880 |
| Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Anosmia, Gait disturbance, Hyposmia |
OMIM:606693 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Ataxia, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, Decreased testicular ... |
OMIM:308700 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Abnormal mitochondrial morphology |
ORPHA:275872 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Ataxia |
ORPHA:31 |
| Bardet-Biedl Syndrome 19 |
|
Hyposmia |
OMIM:615996 |
| Gorlin Syndrome |
|
Cryptorchidism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Dysmetria |
OMIM:615578 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Anosmia, Ataxia, Testicular atrophy |
OMIM:308750 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Decreased testicular size, Abnormality of the sense of smell |
OMIM:616113 |
| Hydrolethalus |
|
Cryptorchidism, Agenesis of corpus callosum, Abnormality of the sense of smell |
ORPHA:2189 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:618841 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Steppage gait, Anosmia |
OMIM:601152 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:859 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Anosmia, Decreased testicular size |
OMIM:614837 |
| Young-Onset Parkinson Disease |
|
Hyposmia, Gait imbalance, Impaired social interactions |
ORPHA:2828 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
| Hsd10 Disease |
|
Choreoathetosis, Abnormal social behavior, Ataxia, Gait disturbance |
ORPHA:391417 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:616030 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anosmia |
OMIM:243000 |
| Refsum Disease, Classic |
|
Anosmia, Ataxia |
OMIM:266500 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Azoospermia, Testicular microlithiasis, Abnormality of the Leydig cells, Abnormality of the sense... |
OMIM:228300 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Abnormal sperm morphology... |
ORPHA:52901 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614841 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
| Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Mitochondrial hypertrophy |
OMIM:602541 |
| Dystonia-Aphonia Syndrome |
|
Unsteady gait, Abnormal mitochondrial shape, Gait disturbance |
ORPHA:412217 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:611209 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
| Kleine-Levin Syndrome |
|
Parosmia |
ORPHA:33543 |
| Kallmann Syndrome |
|
Ataxia, Cryptorchidism, Anosmia, Gait disturbance, Hyposmia, Decreased testicular size |
ORPHA:478 |
| Bardet-Biedl Syndrome 17 |
|
Hyposmia, Anosmia |
OMIM:615994 |
| Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia |
ORPHA:2316 |
| Refsum Disease |
|
Anosmia, Ataxia |
ORPHA:773 |
| Superficial Siderosis |
|
Ataxia, Partial anosmia, Unsteady gait, Anosmia, Dysmetria, Limb ataxia, Progressive gait ataxia,... |
ORPHA:247245 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Mitochondrial hypertrophy |
OMIM:619518 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
| Barth Syndrome |
|
Gait disturbance, Abnormal mitochondrial morphology |
OMIM:302060 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
| 8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
| Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Anosmia, Agenesis of corpus callosum |
ORPHA:3157 |
| Friedreich Ataxia |
|
Diabetes mellitus, Ataxia, Decreased pyruvate carboxylase activity, Limb ataxia, Gait ataxia |
OMIM:229300 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Camptodactyly |
OMIM:616737 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Depressed nasal bridge |
ORPHA:444002 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Lethargy |
OMIM:277410 |
| Hereditary Late-Onset Parkinson Disease |
|
Hyposmia, Shuffling gait, Akinesia |
ORPHA:411602 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
| Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy |
OMIM:251110 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Ataxia, Gait ataxia |
ORPHA:543470 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Bilateral cryptorchidism, Decreased testicular size, Partial anosmia, Total anosmia |
ORPHA:2326 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia |
ORPHA:2250 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Cryptorchidism, Anosmia... |
ORPHA:2162 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| 8P11.2 Deletion Syndrome |
|
Cryptorchidism, Anosmia, Azoospermia, Depressed nasal bridge |
ORPHA:251066 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Unsteady gait, Decr... |
ORPHA:17 |
| Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly |
ORPHA:487796 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia, Broad nasal tip |
ORPHA:530983 |
| Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy |
OMIM:251100 |
| Moebius Syndrome |
|
Abnormality of the sense of smell |
ORPHA:570 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia, Cryptorchidism, Difficulty walking |
OMIM:618653 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cryptorchidism, Anosmia, Ataxia |
OMIM:609136 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Meningioma |
|
Ataxia, Difficulty walking, Abnormality of the sense of smell |
ORPHA:2495 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:619718 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Waardenburg Syndrome, Type 4C |
|
Cryptorchidism, Anosmia |
OMIM:613266 |
| Fumarase Deficiency |
|
Anteverted nares, Mitochondrial swelling, Agenesis of corpus callosum, Depressed nasal bridge |
OMIM:606812 |
| Amoebiasis Due To Free-Living Amoebae |
|
Hyposmia, Ataxia |
ORPHA:68 |
| Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cryptorchidism, Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
| Wilson Disease |
|
Hyposmia |
OMIM:277900 |
| Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
| Leopard Syndrome 1 |
|
Hyposmia, Cryptorchidism, Depressed nasal ridge |
OMIM:151100 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Lethargy |
OMIM:277400 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Failure to thrive, Ataxia, Gait ataxia |
ORPHA:255210 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Choanal atresia, Prominent nose, Cryptorchidism, Abnormal social behavior |
ORPHA:93932 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Wide nose, Anteverted nares, Ataxia, Bulbous nose, Unsteady gait, Dysmetria, Nonprogressive cereb... |
ORPHA:314647 |
| Charge Syndrome |
|
Cryptorchidism, Anosmia, Depressed nasal bridge, Choanal atresia |
ORPHA:138 |
| 48,Xxxy Syndrome |
|
Cryptorchidism, Depressed nasal ridge, Azoospermia, Abnormal social behavior, Decreased testicula... |
ORPHA:96263 |
| Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Ataxia, Decreased pyruvate carboxylase activity |
OMIM:601992 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Ataxia |
ORPHA:1020 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Anosmia, Choanal atresia |
ORPHA:2363 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion |
ORPHA:101096 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Lateral ventricle dilatat... |
ORPHA:177907 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Abnormal social behavior |
ORPHA:309263 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Inability to walk, Prominent nasal tip, Abnormal social... |
ORPHA:1675 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive gait ataxia, Abnormal social behavior, Difficulty walking |
ORPHA:309271 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia |
OMIM:605909 |
| Charge Syndrome |
|
Cryptorchidism, Anosmia, Choanal atresia |
OMIM:214800 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Thick nasal alae, Prominent nasal bridge, Testicular neoplasm, Underdeveloped nasal alae, Cryptor... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Thick nasal alae, Prominent nasal bridge, Testicular neoplasm, Underdeveloped nasal alae, Cryptor... |
ORPHA:363958 |
| Mend Syndrome |
|
Abnormal nasal bridge morphology, Cryptorchidism, Abnormal social behavior, Prominent nasal bridge |
ORPHA:401973 |
| Niemann-Pick Disease Type C |
|
Progressive gait ataxia, Abnormal social behavior, Ataxia, Gait disturbance |
ORPHA:646 |
| Williams Syndrome |
|
Ataxia, Cryptorchidism, Wide nasal bridge, Dysmetria, Gait disturbance, Gait imbalance, Short nos... |
ORPHA:904 |
| Tuberous Sclerosis Complex |
|
Abnormal social behavior |
ORPHA:805 |
