| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
| Cockayne Syndrome |
|
Ataxia, Inability to walk, Hepatomegaly, Retinal degeneration, Limb hypertonia, Dry hair, Retinal... |
ORPHA:191 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Gordon Holmes Syndrome |
|
Infertility, Ataxia, Cerebral atrophy, Hypogonadotropic hypogonadism, Oligomenorrhea, Cerebellar ... |
OMIM:212840 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... |
OMIM:258450 |
| Waldenström Macroglobulinemia |
|
Malabsorption, Ataxia, Hepatomegaly, Abnormal retinal vascular morphology, Splenomegaly, Multifoc... |
ORPHA:33226 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Subdural hemorrhage, Pallidal degeneration, Rigidity, Retinal hemorrhage, Chorea, Athetos... |
ORPHA:25 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Retinal degeneration, Subdural hemorrhage, Brain atrophy, Dry hair, Retinal dystrop... |
ORPHA:90324 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Dysphagia,... |
OMIM:619565 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Incontinentia Pigmenti |
|
Telangiectasia of the skin, Alopecia, Spasticity, Abnormal toenail morphology, Broad nail, Irregu... |
ORPHA:464 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Limb ataxia, Alopecia, Head tremor, Truncal ataxia, Difficulty walking, Type I diabetes mellitus,... |
ORPHA:412057 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of... |
ORPHA:33445 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, EEG abnormality, Poor fine motor coordination, Dysmetria, Clumsiness, ... |
ORPHA:157941 |
| Nemaline Myopathy 2 |
|
High palate, Inability to walk, Cleft palate, Weakness of facial musculature, Increased variabili... |
OMIM:256030 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Abnormality of m... |
ORPHA:97229 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Oculopharyngodistal Myopathy 3 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Increased endomysial con... |
OMIM:619473 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Failure to thrive, Thick hair, Sparse hair, Coarse hair, Cerebellar hypoplasia, Spas... |
ORPHA:357074 |
| Cherubism |
|
Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Impotence, Constipation, Orthostatic hypotension, Babinski sign, Aplasia/Hypoplasia of th... |
ORPHA:99027 |
| Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, Ankle flexion... |
OMIM:617519 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Babinski sign, Optic atrophy, Tremor, Abnormality of somatosensory evoked pote... |
ORPHA:52368 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
High palate, Thick hair, Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmet... |
ORPHA:502423 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Rod-cone dystrophy, Pigmentary retinopathy, Gait d... |
ORPHA:216866 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Retinal peau d'orange, Macular degen... |
OMIM:264800 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Vasculitis in the skin, Raynaud phenomenon, Macular edema, Retinal hemorrhage, Hemiparesis, Aprax... |
OMIM:192315 |
| Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Flexion contracture, Small for gestational age, Retinal hemo... |
OMIM:615368 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... |
ORPHA:95433 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Multiple joint contractures, Inability to walk, Blepharospas... |
OMIM:128100 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
| Ravine Syndrome |
|
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... |
ORPHA:99852 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Scapular winging, Optic ... |
ORPHA:254886 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Inability to walk, Flexion contracture of finger, Limb ataxia, Proximal muscle weakness in lower ... |
ORPHA:101085 |
| Incontinentia Pigmenti |
|
Sparse hair, Alopecia, Coarse hair, Hypoplasia of the fovea, Optic atrophy, Breast aplasia, Spast... |
OMIM:308300 |
| Myopathy, Mitochondrial, And Ataxia |
|
High palate, Thick hair, Ataxia, Inability to walk, Limb ataxia, Dysmetria, Hyperthyroidism, Dysd... |
OMIM:617675 |
| Christianson Syndrome |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Gastroesoph... |
ORPHA:85278 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Hypergonadot... |
OMIM:157640 |
| Adult Krabbe Disease |
|
Hemiplegia, Ataxia, Babinski sign, Erectile dysfunction, Progressive spastic paraparesis, Spastic... |
ORPHA:206448 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Diarrhea, Myocarditis, Epi... |
ORPHA:99827 |
| Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Increased variability in muscle fiber diameter, Optic atrophy, Gait disturbance, Spastici... |
OMIM:125250 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Ataxia, Constipation, Cachexia, Ragged-red muscle fibers, Weight lo... |
OMIM:613662 |
| Oculopharyngodistal Myopathy |
|
High palate, Impaired oropharyngeal swallow response, Weakness of facial musculature, Difficulty ... |
ORPHA:98897 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Gastroesophageal reflux, Flexion contracture, Tachycardia, Retinal hemorrhage, Bilat... |
OMIM:614653 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Tremor, Spasticity, Dysphagia, Dystonia, Progressiv... |
OMIM:304700 |
| Perrault Syndrome 1 |
|
High palate, Sensorineural hearing impairment, Ataxia, Intention tremor, Spastic diplegia, Primar... |
OMIM:233400 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Hip contracture, Vitreous hemorrhage, Bloody diarrhea, Hematemesis, Cerebral hemorrhage, ... |
ORPHA:464321 |
| Pseudoxanthoma Elasticum |
|
High palate, Angina pectoris, Telangiectasia of the skin, Hemiplegia/hemiparesis, Bruising suscep... |
ORPHA:758 |
| Trichinellosis |
|
Hemiplegia, Babinski sign, Retinal hemorrhage, Hemiparesis, Tinnitus, Nausea, Abnormality of the ... |
ORPHA:863 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Small intestinal dysmotility, Diarrhea, Vomiting, Weight loss, Ga... |
ORPHA:298 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... |
ORPHA:300605 |
| Rift Valley Fever |
|
Paraparesis, Melena, Hematemesis, Abnormal bleeding, Macular edema, Decerebrate rigidity, Retinal... |
ORPHA:319251 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Inability to walk, Increased endomysial connective tissue, EMG: myopathic abnormalities, Increase... |
ORPHA:266 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High palate, Angina pectoris, High, narrow palate, Macular degeneration, Cerebral hemorrhage, Ret... |
OMIM:177850 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
| Childhood-Onset Nemaline Myopathy |
|
High palate, Neuromuscular dysphagia, Slender build, Facial diplegia, Nemaline bodies, Bradykines... |
ORPHA:171439 |
| Vici Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Ocular albinism, Cleft palate, Hypopigmentat... |
OMIM:242840 |
| Huntington Disease |
|
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Abnormal libido, We... |
ORPHA:399 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Ataxia, Cerebral cortical atrophy, Optic atrophy, Difficulty walking, Cerebellar atro... |
OMIM:619425 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Retinal pigment epithelial mottling, Weakness of facial musculature, Increased variabilit... |
OMIM:607459 |
| Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Caudate atrophy, Parkinsonism, Chorea, Gait disturbance, Involuntary m... |
ORPHA:98934 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Brain atrophy, Cerebral atrophy, ... |
OMIM:619260 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Slurred speech, Impaired t... |
ORPHA:206443 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnorma... |
ORPHA:1875 |
| Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Loss of ambulation, Female infertility, Skel... |
OMIM:619518 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Abnormal... |
OMIM:601382 |
| Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Apl... |
ORPHA:231169 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Failure to thrive, Muscle fiber necrosis, Gastroesophageal reflux, Cleft palate, EMG... |
OMIM:614399 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... |
OMIM:613954 |
| Classic Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Primary amenorrhea, Diarrhea, Vomiting, Secondary amenorrhe... |
ORPHA:79239 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Inability to walk, Macroglossia, Flexion contracture, Muscula... |
OMIM:613155 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... |
ORPHA:401768 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Ataxia, Retinal telangiectasia, Esophageal varix, Spasticity, Portal hypertension, Gastrointestin... |
OMIM:617341 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Cochlear degeneration, Diabetes mellitus, Slowed slurred speech, Progressive sensorineura... |
OMIM:172500 |
| Tay-Sachs Disease |
|
Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Skeletal muscle atrophy, Precocious... |
ORPHA:845 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Gm1 Gangliosidosis |
|
Ataxia, Abnormality of extrapyramidal motor function, Aplasia/Hypoplasia of the abdominal wall mu... |
ORPHA:354 |
| Rhombencephalosynapsis |
|
Anal atresia, Ataxia, Tracheoesophageal fistula, Low-set, posteriorly rotated ears, Agenesis of c... |
ORPHA:59315 |
| Erythrokeratodermia Variabilis |
|
Protruding ear, Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alopec... |
ORPHA:317 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Chronic otitis media, Localized pulmonary hemorrhage, Weight loss, Diffuse al... |
OMIM:608710 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
High palate, Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis,... |
ORPHA:457240 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Retinal hemorrhage, Retinal arteriolar tortuosity, Raynaud phenomenon |
OMIM:611773 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... |
OMIM:616924 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
High palate, Low-set ears, Facial diplegia, Gastroesophageal reflux, Flexion contracture, Cachexi... |
OMIM:618186 |
| Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Ataxia, Hepatomegaly, Sparse hair, Retinal pigment epithelial mottling... |
OMIM:216400 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Coach Syndrome 1 |
|
Ataxia, Hepatomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Splenomegaly, Oculomotor aprax... |
OMIM:216360 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage, Retinal arteriolar tortuosity |
OMIM:180000 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Facial palsy, Decreased motor nerve conduction velocity, Upper limb muscle w... |
OMIM:601596 |
| Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Projectile vomiting, Diarrhea, Decreased intestinal transit time,... |
OMIM:620045 |
| Noonan Syndrome 7 |
|
Large earlobe, Impaired oropharyngeal swallow response, Pulmonic stenosis, Abnormal esophagus mor... |
OMIM:613706 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal thinning, Retinal dystrophy, Cerebellar vermis hypoplasia, Cere... |
OMIM:615960 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... |
ORPHA:437572 |
| Galactosemia |
|
Gait imbalance, Failure to thrive, Ataxia, Action tremor, Hepatomegaly, Cryptorchidism, Abnormal ... |
ORPHA:352 |
| Bardet-Biedl Syndrome 1 |
|
High palate, Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, ... |
OMIM:209900 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, White eyebrow, Spasticity, White forelock, Absent brainstem auditory responses, Hypoplasi... |
OMIM:609136 |
| Septo-Optic Dysplasia Spectrum |
|
Sensorineural hearing impairment, Hemiplegia/hemiparesis, Hypoplasia of penis, Cleft palate, Cons... |
ORPHA:3157 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Premature graying of hair, Telangiectasia of the skin, Mucosal telangi... |
ORPHA:100 |
| Adult-Onset Nemaline Myopathy |
|
High palate, Neuromuscular dysphagia, Nemaline bodies, Bradykinesia, Flexion contracture, EMG: my... |
ORPHA:171442 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal cerebellar cortex morphology, Impaired vibratory sensation, Myoclonus, Increased variabi... |
ORPHA:70595 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Sensorineural hearing impairment, Esophageal neoplasm, Failure to thrive, Gastroesophageal reflux... |
ORPHA:1018 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... |
ORPHA:370022 |
| Benign Schwannoma |
|
Allodynia, Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophagus morpholog... |
ORPHA:252164 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Protruding ear, Hirsutism, Thick eyebrow, Hypoplasia of the uterus, C... |
ORPHA:247768 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... |
OMIM:254110 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Failure to thrive, Hypermelanotic macule, Cryptorchi... |
ORPHA:90321 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Hepatomegaly, Dysmenorrhea, Skeletal muscle hypertrophy, Splenomegaly, Oli... |
ORPHA:79083 |
| Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... |
ORPHA:94080 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... |
ORPHA:225147 |
| Renpenning Syndrome |
|
Sensorineural hearing impairment, Anal atresia, Abnormal hairshaft morphology, High, narrow palat... |
ORPHA:3242 |
| Moynahan Syndrome |
|
Sensorineural hearing impairment, Sparse hair, Alopecia, Cachexia, Hypogonadism |
ORPHA:2574 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Gastroesophageal reflux, Cerebral atrophy, Patent ductus arteriosus, Cryptorch... |
OMIM:614857 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Dysmenorrhea, Splenomegaly, Oligomenorrhea, Irregular menstruati... |
ORPHA:370 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Ataxia, Inability to walk, Gastroesophageal reflux, Hypopigmentation of hair, ... |
ORPHA:70472 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Titubation, Difficu... |
ORPHA:98768 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... |
ORPHA:90050 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... |
ORPHA:320401 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:604213 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Azoospermia, Male infertility |
ORPHA:94064 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... |
OMIM:619065 |
| Infantile Krabbe Disease |
|
Vomiting, Optic atrophy, Spasticity, Lower limb spasticity, Abnormal heart rate variability, Decr... |
ORPHA:206436 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Paraparesis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, A... |
ORPHA:909 |
| Generalized Arterial Calcification Of Infancy |
|
Calcification of the auricular cartilage, Vomiting, Transient ischemic attack, Pancreatic calcifi... |
ORPHA:51608 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle ... |
OMIM:619566 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hepatomegaly, Cerebral atrophy, Splenomegaly, Abnormal bleeding, Inflammation ... |
OMIM:614576 |
| Flynn-Aird Syndrome |
|
Ataxia, Cerebral cortical atrophy, EEG abnormality, Abnormality of the thyroid gland, Rod-cone dy... |
ORPHA:2047 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemiplegia, Cerebral hemorrhage, Corneal neovascularization, Babinski sign, Facial paralysis, Ret... |
OMIM:175780 |
| Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Cons... |
ORPHA:897 |
| Retinal Venous Beading |
|
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Retinal infarction, Abnormal distribu... |
OMIM:180080 |
| Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Oligomenorrh... |
ORPHA:264580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal musc... |
OMIM:618654 |
| Idiopathic Aplastic Anemia |
|
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage |
ORPHA:88 |
| Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Titubation, Somatic sensory dysfunction, Gait ataxia, Cerebellar atrophy,... |
ORPHA:98771 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Sensorineural hearing impairment, Ataxia, Loss of ambulation, Decreased level of coenzyme Q10 in ... |
OMIM:607426 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Waddling... |
OMIM:612937 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Macroglossia, Right ventr... |
ORPHA:353 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Overfold... |
OMIM:300514 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Abnormal left ventricular function, Spastic paraparesis, Left ventric... |
ORPHA:3208 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... |
ORPHA:2198 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Gait disturban... |
OMIM:601455 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Hepatomegaly, Dysmenorrhea, Hypertrophic cardiomyopathy, Skeletal muscle h... |
ORPHA:2348 |
| Tibial Muscular Dystrophy |
|
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... |
ORPHA:609 |
| Abcd Syndrome |
|
Large for gestational age, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked pot... |
OMIM:600501 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Stapes ankylosis, Congenit... |
ORPHA:90646 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Oligomenorrhe... |
OMIM:615300 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia |
ORPHA:276183 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... |
OMIM:616648 |
| Mantle Cell Lymphoma |
|
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Arthrogryposis, Distal, Type 2A |
|
High palate, Failure to thrive, Hip contracture, Flexion contracture of finger, Cryptorchidism, J... |
OMIM:193700 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Attrv30M Amyloidosis |
|
Impotence, Constipation, Abnormal autonomic nervous system physiology, Diarrhea, Arrhythmia, Vitr... |
ORPHA:85447 |
| Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis, Long penis, Opti... |
ORPHA:1672 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... |
OMIM:618138 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
| Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Diarrhea, Chronic otitis media, Weight loss, Aplasia/Hypoplasia... |
ORPHA:33355 |
| Apert Syndrome |
|
Ectopic anus, Sensorineural hearing impairment, Conductive hearing impairment, Narrow palate, Ova... |
ORPHA:87 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, High palate, Female infertility, Hypoplasia of the uterus, Cupped ear, Irregular mens... |
OMIM:110100 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Cerebral cortical atrophy, Cachexia, Failure to thrive in infancy, Bowel incontinence, Ga... |
ORPHA:702 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Erectile dysfunction, Weight loss, Cardiome... |
ORPHA:465508 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Hirschsprung Disease |
|
Sensorineural hearing impairment, Constipation, Diarrhea, Failure to thrive in infancy, Intestina... |
ORPHA:388 |
| Leptospirosis |
|
Optic neuritis, Hepatomegaly, Papilledema, Pulmonary hemorrhage, Diarrhea, Arrhythmia, Retinal he... |
ORPHA:509 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Brain atrophy, Cranial nerve compression, EMG: myopathic abnormali... |
ORPHA:52430 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
High palate, Axial dystonia, Decreased sensory nerve conduction velocity, Flexion contracture, De... |
OMIM:619026 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... |
ORPHA:34516 |
| Rigid Spine Muscular Dystrophy 1 |
|
High palate, Failure to thrive, Loss of ambulation, Decreased body weight, Increased endomysial c... |
OMIM:602771 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... |
ORPHA:91347 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Iris hypopigmentation, Abnorma... |
ORPHA:231183 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Congenital stationa... |
ORPHA:8 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... |
ORPHA:397946 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Uterine neoplasm, Me... |
ORPHA:370348 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Hepatomegaly, Sparse hair, Dry hair, Optic atrophy, Tremor, De... |
OMIM:133540 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Diarrhea, Cerebellar hypoplasia, Vomit... |
ORPHA:3240 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentatio... |
ORPHA:2885 |
| Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebe... |
OMIM:615181 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... |
OMIM:615424 |
| Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Female infertility, Rod-cone dystrophy, Intestinal malrotation, Ch... |
ORPHA:244 |
| Xq21 Microdeletion Syndrome |
|
Ataxia, Optic atrophy, Hypertension, Choroideremia, Bilateral sensorineural hearing impairment, P... |
ORPHA:1435 |
| Idiopathic Achalasia |
|
Dysphagia, Weight loss, Gastroesophageal reflux |
ORPHA:930 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... |
ORPHA:1878 |
| Dyskeratosis Congenita |
|
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Anore... |
ORPHA:1775 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Failure to thrive, Protruding ear, Torticollis, Slender build, Muscle fiber necrosis... |
OMIM:254090 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Trisomy 18 |
|
Anal atresia, Hypertonia, Narrow palate, Abnormality of retinal pigmentation, Congenital diaphrag... |
ORPHA:3380 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
| Myopathy With Extrapyramidal Signs |
|
Ataxia, Clumsiness, Hepatomegaly, Splenomegaly, Calf muscle hypertrophy, Abnormality of extrapyra... |
OMIM:615673 |
| Neurofibromatosis Type 2 |
|
Sensorineural hearing impairment, Abnormal cerebellum morphology, Remnants of the hyaloid vascula... |
ORPHA:637 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Erectile dysfun... |
ORPHA:91349 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Hypertension associated with pheochromocytoma,... |
ORPHA:276621 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Constipation, Decreased circulating and... |
ORPHA:95699 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Motor stereotypy, Hypospadias, Dilated fourth ventricle, Cerebe... |
OMIM:617751 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Palpitations, Increased ... |
ORPHA:488650 |
| Rett Syndrome |
|
Cerebral cortical atrophy, Gastroesophageal reflux, Abnormal T-wave, EEG abnormality, Constipatio... |
OMIM:312750 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
High palate, Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, ... |
ORPHA:98905 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Adrenal pheochromocytoma, Weight loss, Pulsatile tinnitus, Cerebral hemorrhage, Palpitati... |
ORPHA:29072 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Sparse scalp hair, Protruding ear, Multiple cafe-au-lait spots, Absent eyebrow, S... |
ORPHA:1809 |
| X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Broad-based gait, EEG abnormality, Hypoplasia of penis, Cachexia, Camptodactyly of f... |
ORPHA:85293 |
| Plaa-Associated Neurodevelopmental Disorder |
|
High palate, Sensorineural hearing impairment, Failure to thrive, Hirsutism, Exaggerated startle ... |
ORPHA:521426 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Diarrhea, Vomiting, Hypogonadism, Gastrointestinal hemorrhage, Weight loss, Abnorma... |
ORPHA:85450 |
| Systemic Sclerosis |
|
Alopecia, Myocarditis, Pericarditis, Abnormal large intestine morphology, Irregular hyperpigmenta... |
ORPHA:90291 |
| Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, High, narrow palate, Tip-toe gait, Flexion contra... |
ORPHA:536516 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Heterochromia iridis, Retinoblastoma, Cleft palate, Vitreous... |
ORPHA:790 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Failure to thrive, Cerebral atrophy, Weakness of facial musculature, Increased v... |
OMIM:619461 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
High palate, Multiple joint contractures, Gastroesophageal reflux, EMG: myopathic abnormalities, ... |
ORPHA:486815 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized hirsutism, Narrow palate, High, narrow palate, Right ventricular hypertrophy, Myoclon... |
OMIM:612949 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Abnormal neuron branching, Failure to thrive, Hepatomegaly, Fle... |
ORPHA:367 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Sensorineural hearing impairment, Slender build, Malabsorption, Constipation, Allodynia, Hypoesth... |
OMIM:603041 |
| Mogs-Cdg |
|
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, Hirsutism, Fa... |
ORPHA:79330 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Nail dysplasia, Failure to thrive, Decreased body weight, Gastroesophageal reflux, Irregular hype... |
ORPHA:89842 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Multiple cafe-au-lait sp... |
ORPHA:457059 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
| Sandifer Syndrome |
|
Torticollis, Gastroesophageal reflux, Hematemesis, Hiatus hernia, Episodic vomiting, Esophagitis,... |
ORPHA:71272 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Stomach cancer, Alopecia, Diarrhea, Furrowed tongue, Intestinal polyposis, Generali... |
ORPHA:2930 |
| Glossopharyngeal Neuralgia |
|
Odynophagia, Cranial nerve compression, Vocal cord paralysis, Syncope, Ear pain, Abnormal glossop... |
ORPHA:221098 |
| Oculopharyngodistal Myopathy 4 |
|
High palate, Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability ... |
OMIM:619790 |
| Retinitis Pigmentosa 89 |
|
Rod-cone dystrophy, Hepatosplenomegaly, Retinal thinning, Esophageal varix, Hyperautofluorescent ... |
OMIM:618955 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Sandhoff Disease |
|
Ataxia, Impotence, Hepatomegaly, Exaggerated startle response, Cherry red spot of the macula, Mac... |
OMIM:268800 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Failure to thrive, Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux,... |
ORPHA:411696 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Giant Cell Arteritis |
|
Conductive hearing impairment, Ataxia, Alopecia, Sudden cardiac death, Arrhythmia, Vasculitis, Pe... |
ORPHA:397 |
| Mcdonough Syndrome |
|
Protruding ear, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Low-set, posterio... |
ORPHA:2471 |
| Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Er... |
ORPHA:2965 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... |
OMIM:253601 |
| Oculopharyngodistal Myopathy 1 |
|
High palate, Sensorineural hearing impairment, Ataxia, Brain atrophy, Hypertrophic cardiomyopathy... |
OMIM:164310 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Lower limb muscle weakness, R... |
OMIM:137440 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials, Hypoplasia of the pons |
OMIM:617523 |
| Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... |
ORPHA:144 |
| Norrie Disease |
|
Abnormal helix morphology, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Erectile dysfunct... |
ORPHA:649 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Facial hypotonia, Hip contracture, Hypertonia, Inability to walk, Constipation, Cerebral atrophy,... |
OMIM:616801 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia, Arrhythmia, Gait disturbance, Skeletal muscle atrophy, Myopathy, C... |
ORPHA:157973 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hypopigmentat... |
ORPHA:2221 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Stenosis of the external auditory canal, Anonychia, Urethral stricture, Vaginal stricture, Esopha... |
ORPHA:79409 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... |
ORPHA:99429 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Sensorineural hearing impairment, Broad-based gait, Cholelithiasis, Hypertonia, Limb ataxia, Sple... |
ORPHA:2072 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Diarrhea, Vomiting, Gait ataxia, Weight loss |
OMIM:612075 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
High palate, Failure to thrive, Limb joint contracture, Type 1 fibers relatively smaller than typ... |
OMIM:255310 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Distal Monosomy 10Q |
|
High palate, Facial diplegia, Ataxia, Cleft palate, Morphological abnormality of the vestibule of... |
ORPHA:96148 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Pituitary... |
ORPHA:440437 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increased variability in... |
OMIM:619178 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... |
ORPHA:199299 |
| Adams-Oliver Syndrome |
|
