Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit... |
ORPHA:90646 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... |
OMIM:303110 |
Conductive Deafness-Malformed External Ear Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... |
ORPHA:1435 |
Deafness, Conductive, With Malformed External Ear |
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Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Opticocochleodentate Degeneration |
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Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Ossicular Malformations, Familial |
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Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... |
OMIM:618889 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Usher Syndrome Type 1 |
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Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Apl... |
ORPHA:231169 |
Porphyria, Acute Intermittent |
|
Dysuria, Paralytic ileus, Constipation, Abdominal pain, Depression, Anxiety, Elevated urinary del... |
OMIM:176000 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Hearing impairment, Cerebral atrophy, Cerebellar atrophy |
OMIM:619090 |
Deafness, Progressive, With Stapes Fixation |
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Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
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Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Craniodiaphyseal Dysplasia |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy |
ORPHA:1513 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Waardenburg Syndrome, Type 2E |
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Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Deafness, X-Linked 6 |
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Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Ataxia, Inability to walk, Gastroesophageal reflux, Sparse hair, Feeding difficulties, Small for ... |
OMIM:617799 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Smith-Magenis Syndrome |
|
EEG abnormality, Retinal detachment, Impaired pain sensation, Morphological abnormality of the mi... |
OMIM:182290 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar para... |
ORPHA:79276 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment |
OMIM:184460 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Anorexia, Leukopenia, Papule, Abnormal macrophage morphology,... |
ORPHA:507 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hepatomegaly, Abdominal distention, Increased hepatic glycogen content, Cirrho... |
ORPHA:369 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... |
ORPHA:79113 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment |
OMIM:185800 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Brain atrophy, Cerebral atrophy, Pneumonia |
ORPHA:85179 |
Crouzon Syndrome |
|
Conductive hearing impairment, Cerebellar hypoplasia, Optic atrophy, Chiari malformation, Narrow ... |
ORPHA:207 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Iris hypopigmentation, Abnorma... |
ORPHA:231183 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... |
ORPHA:95433 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Depression, Anxiety, Obesity |
OMIM:103200 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Hepatosplenomegaly, Diarrhea, T lymphocytopenia, Elevate... |
ORPHA:79124 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Prolonged soma... |
OMIM:616648 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, EEG abnormality, Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy... |
OMIM:610951 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... |
ORPHA:52429 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Kearns-Sayre Syndrome |
|
Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia |
ORPHA:480 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Oculopharyngodistal Myopathy 3 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Pigmentary retinopathy |
OMIM:619473 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Abnormal ... |
OMIM:125250 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abdominal distention, Polycystic liver dis... |
ORPHA:2924 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Alopecia, Erythema, Dry skin, Skin plaque, Skin ulcer, Abnormal lymph... |
ORPHA:2584 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Abnormality of visual... |
ORPHA:320401 |
Septopreoptic Holoprosencephaly |
|
Impulsivity, Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Dysphagia,... |
ORPHA:280195 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Abnormality of retinal pigmentation,... |
ORPHA:1466 |
Reticular Dysgenesis |
|
Failure to thrive, Leukopenia, Diarrhea, Abnormality of neutrophils, Weight loss, Skin ulcer, Anemia |
ORPHA:33355 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Happy demeanor, Naevus flammeus of the eyelid, Annular pancreas, Inability to wal... |
ORPHA:97297 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Low-set ears, Bilateral sensorineural ... |
OMIM:264470 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Erythema, Papule, Indurated nodule, Annular cutaneous lesio... |
ORPHA:542592 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Dec... |
OMIM:620045 |
Papular Xanthoma |
|
Histiocytosis, Eruptive xanthomas, Skin plaque |
ORPHA:158008 |
Canavan Disease |
|
Abnormality of retinal pigmentation, EEG abnormality, Abnormality of visual evoked potentials, Op... |
ORPHA:141 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Cirrhosis... |
ORPHA:90003 |
Free Sialic Acid Storage Disease |
|
Ataxia, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Athetosis, Gait disturbance, Proteinuria,... |
ORPHA:834 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Constipation, Dysmetria, Dysdiadochokinesis, Recurrent urinary tract infections, Urinary ... |
ORPHA:99027 |
Narp Syndrome |
|
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic... |
ORPHA:644 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... |
ORPHA:791 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnutrition... |
OMIM:613662 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Erythematous macule, Erythematous papule |
ORPHA:158025 |
Fatal Familial Insomnia |
|
Ataxia, Constipation, Urinary retention, Dysphagia, Weight loss |
OMIM:600072 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Constipation, Splenom... |
OMIM:257200 |
Ramon Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentation |
ORPHA:3019 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Apathy, Abnormal fear/anxiety-related behavior, Constipation, Abdominal distention, Abdominal pai... |
ORPHA:100924 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
Foix-Alajouanine Syndrome |
|
Gait imbalance, Bowel incontinence, Functional abnormality of the bladder, Urinary retention, Dif... |
ORPHA:79093 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Cachexia, Anxiety, Gait ataxia, Cerebellar atrophy, Dysphagia, Irr... |
OMIM:618093 |
Leber Congenital Amaurosis |
|
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Aplasia/... |
ORPHA:65 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... |
OMIM:108760 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear |
OMIM:615706 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, ... |
OMIM:619389 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of the outer ear, Abnormality of retinal pigmentation |
ORPHA:2515 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Abnormality of vis... |
ORPHA:1215 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Ataxia, Abnormality of retinal pigmentation, Cerebellar hypoplasia |
ORPHA:2246 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Ataxia, Abnormal renal medulla morphology, Nephronophthis... |
OMIM:609583 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Dracunculiasis |
|
Diarrhea, Subcutaneous nodule, Skin ulcer, Nausea and vomiting, Recurrent cutaneous abscess forma... |
ORPHA:231 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Distal sensory impa... |
OMIM:601455 |
Visceral Myopathy 1 |
|
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Urinary ret... |
OMIM:155310 |
Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:605192 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Ataxia, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy |
ORPHA:1178 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... |
OMIM:618500 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment, Blue sclerae, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Impaired vibratory sensation |
OMIM:610738 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... |
ORPHA:848 |
Distal Monosomy 10Q |
|
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... |
ORPHA:96148 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of th... |
ORPHA:2585 |
Usher Syndrome, Type Iv |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal atrophy, Bone spicule pigmentatio... |
OMIM:618144 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Cerebellar ve... |
OMIM:619111 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Constipation, Abnormality of the peritoneum, Urinary retention, Weight loss |
ORPHA:2126 |
Coach Syndrome 3 |
|
Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstit... |
OMIM:619113 |
Achondroplasia |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:100800 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Diarrhea, Abnormal lymphocyte morphology, Abnormality of neutrophils, Skin ulc... |
ORPHA:229717 |
Mevalonic Aciduria |
|
Blue sclerae, Ataxia, Cerebral cortical atrophy, Low-set, posteriorly rotated ears |
ORPHA:29 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, ... |
OMIM:619260 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Constipation, Alopecia, Ureteral obstruction, Vomiting, Urinary retention, Gastrointestinal infla... |
ORPHA:79404 |
Ring Chromosome 14 Syndrome |
|
Low-set ears, Pigmentary retinopathy |
OMIM:616606 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Chiari malfor... |
ORPHA:93262 |
Cleft Velum |
|
Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media |
ORPHA:99772 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment |
ORPHA:3246 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Slc35A2-Cdg |
|
Inability to walk, Gastroesophageal reflux, Transient nephrotic syndrome, Feeding difficulties, N... |
ORPHA:356961 |
Abruzzo-Erickson Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Chorioretinal coloboma, Macrotia |
ORPHA:921 |
Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Hematuria, Glomerulopathy... |
ORPHA:91138 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Botulism |
|
Constipation, Abdominal pain, Diarrhea, Urinary retention, Dysphagia, Nausea and vomiting |
ORPHA:1267 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Abnormality of the outer ear, Microtia |
OMIM:248390 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Papule |
ORPHA:157997 |
Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation |
ORPHA:1681 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Abdominal distention, Difficulty walking, Cerebellar atrophy, Irritability |
ORPHA:79097 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... |
OMIM:609166 |
Foodborne Botulism |
|
Constipation, Abdominal pain, Diarrhea, Urinary retention, Dysphagia, Nausea and vomiting |
ORPHA:228371 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Alopecia, Hepatitis, Weight loss, Chronic diarrhea, Neutropenia, Skin ulcer, A... |
ORPHA:47 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Skin ulcer, Jaundice, Failure to thriv... |
ORPHA:231226 |
Joubert Syndrome 10 |
|
Feeding difficulties in infancy, Hirsutism, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Juvenile Hyaline Fibromatosis |
|
Papule, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer, Abnormal hair morphology |
ORPHA:2028 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia |
OMIM:248910 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F... |
OMIM:204000 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Retinal degeneration, Pigmentary retinopathy, Vestibular dysfun... |
OMIM:520000 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Abdominal distention, Abdominal pain, Small intestinal dysmotility, Cirr... |
ORPHA:298 |
Adrenomyeloneuropathy |
|
Urinary bladder sphincter dysfunction, Adrenocorticotropic hormone excess, Frontal balding, Urina... |
ORPHA:139399 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Gait disturbance, Urinary retention, Pseudobulbar paralysis |
OMIM:616586 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Gastroesophageal reflux, Feeding difficulties, Splenomegaly, Unilateral renal agene... |
ORPHA:90324 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Hirsutism, Abnormality of the urethra, Urinary retention, Urinary incontinence |
ORPHA:2795 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer, Epidermoid cyst, Sparse scalp hair |
ORPHA:492 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Decreased nerve conduction vel... |
OMIM:256600 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal cerebellum morphology, Abnormal pons morphology, Ataxia, Abnormal hypothalamus morpholog... |
ORPHA:68 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Low-set, posteriorly rotated ears, Ab... |
ORPHA:1390 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... |
ORPHA:231214 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... |
ORPHA:3236 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting, Jaundice |
ORPHA:313906 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Depression, G... |
ORPHA:248111 |
Adult Polyglucosan Body Disease |
|
Urinary bladder sphincter dysfunction, Ataxia, Gait disturbance, Skin ulcer, Neurogenic bladder, ... |
ORPHA:206583 |
Orofaciodigital Syndrome Vi |
|
Conductive hearing impairment, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Low-set ears... |
OMIM:277170 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract... |
OMIM:551500 |
Inhalational Botulism |
|
Nausea and vomiting, Urinary retention, Diarrhea, Constipation |
ORPHA:254504 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Progressive conductive hearing impairment, Bilateral conductive he... |
OMIM:186500 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Prolidase Deficiency |
|
Failure to thrive, Petechiae, Hepatomegaly, Splenomegaly, Facial hirsutism, Elevated circulating ... |
OMIM:170100 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Chronic rhinitis, Recurrent pneumonia, Recurrent otitis media, Bro... |
OMIM:616726 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment |
OMIM:618939 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque, Erythematous papule, Skin ulcer, Weigh... |
ORPHA:86884 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst, Abdominal distention |
OMIM:174050 |
Trehalase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:103909 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears, Optic atrophy |
OMIM:618672 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Aspiration pneumonia, Optic atrophy, Hea... |
OMIM:619057 |
Wolman Disease |
|
Hepatomegaly, Abdominal distention, Splenomegaly, Hepatic failure, Cachexia, Malnutrition, Anemia... |
ORPHA:75233 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Cerebellar hypoplasia,... |
OMIM:251270 |
Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, EEG abnormality, Low-set, ... |
ORPHA:44 |
Hereditary Spherocytosis |
|
Cholelithiasis, Ataxia, Hepatomegaly, Abdominal distention, Spherocytosis, Splenomegaly, Pallor, ... |
ORPHA:822 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Feeding difficulties, Splenomegaly, Nausea and vomiting, Weight loss... |
ORPHA:79238 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebellar atrophy |
ORPHA:3085 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Low-set ears |
OMIM:614701 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Skin ulcer, Erythema, Papule |
ORPHA:2337 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Overfolded helix, Cupped ear, Cerebellar atrophy, Blue sclerae, Low-set ears |
OMIM:617101 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Morphological abnormality of the... |
ORPHA:87 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, 3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Acute hepatic fai... |
OMIM:613070 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Blue sclerae, Low-set ears, High-frequency sensorineural hearing impairment |
ORPHA:2324 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Iridocyclitis, Chronic active hepatitis, Chronic oral c... |
OMIM:240300 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss, Splenomegaly |
ORPHA:52416 |
Takayasu Arteritis |
|
Anorexia, Weight loss, Subcutaneous nodule, Skin ulcer, Gastrointestinal infarctions, Anemia |
ORPHA:3287 |
Wound Botulism |
|
Dysphagia, Urinary retention, Constipation |
ORPHA:178475 |
Flynn-Aird Syndrome |
|
Ataxia, Alopecia, Cachexia, Skin ulcer, Dermal atrophy |
ORPHA:2047 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Cutaneous abscess, Pyoderma gangrenosum |
OMIM:619986 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Hearing impairment, Progressive cerebellar ataxia, Pigmentary retinopathy |
ORPHA:255241 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Iatrogenic Botulism |
|
Dysphagia, Urinary retention, Constipation |
ORPHA:254509 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Skin ulcer, Acral ulceration, Gait disturbance |
ORPHA:139578 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Abdominal distention, Feeding difficulties, Hepatic failure, Cholestasis, Elevated ... |
OMIM:618528 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Dandy-Walker malformation, Multicystic kidney dysplasia, Abnor... |
ORPHA:3032 |
Acrogeria |
|
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Fine hair, Thin skin, Skin ulcer |
ORPHA:2500 |
Meckel Syndrome 13 |
|
Ataxia, Polycystic kidney dysplasia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypo... |
ORPHA:897 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Abdominal pain, Renal neoplasm, Nausea and vomiting, Hematuria, Weight los... |
ORPHA:69077 |
Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Erythema, Subcutaneous nodule |
ORPHA:31112 |
Myopathy, Congenital, Bailey-Bloch |
|
Conductive hearing impairment, Low-set ears |
OMIM:255995 |
Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Abnormal helix morphology, Microtia, Stenosis of the external audi... |
ORPHA:217017 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Ataxia, Multicystic kidney dysplasia, Recurrent urinary t... |
OMIM:618161 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Ataxia, Nephronophthisis, Dilated fourth ventricle, Cereb... |
OMIM:610688 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Microtia |
OMIM:613717 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Low-set ears |
OMIM:616910 |
Rhyns Syndrome |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Rod-cone dy... |
OMIM:602152 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Pigmentary retinopathy, Olivopont... |
OMIM:164500 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Chronic otitis media, Chronic sinusitis, Bronchiectasis, Rhinitis,... |
OMIM:618063 |
Polyarteritis Nodosa |
|
Abdominal pain, Abnormality of the kidney, Erythema, Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:767 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... |
ORPHA:100084 |
Craniopharyngioma |
|
Enlarged pituitary gland, Abnormal hypothalamus morphology, Papilledema, Hypopituitarism, Optic a... |
ORPHA:54595 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Limb dysmetria, Hearing impairment, Pigmentary retinopathy |
ORPHA:329336 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Zika Virus Disease |
|
Absent foveal reflex, Skin rash, Retinal pigment epithelial mottling, Maculopapular exanthema, Ma... |
ORPHA:448237 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Dilated fourth ventricle, Cerebellar hypoplasia, Malformation of the hep... |
OMIM:614175 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Abnormality of visual evoked potentials, Positive Romb... |
OMIM:601152 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... |
OMIM:601596 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Ataxia, Pigmentary retinopathy, Retinal dystrophy, Cerebe... |
OMIM:608629 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Ataxia, Dysmetria, Truncal ataxia, Optic atrophy, Undetectable ... |
OMIM:601338 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
Abcd Syndrome |
|
Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a... |
OMIM:600501 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... |
OMIM:619858 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Blue sclerae, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2772 |
Schinzel-Giedion Syndrome |
|
Large earlobe, Cerebral cortical atrophy, Abnormal helix morphology, Infantile sensorineural hear... |
ORPHA:798 |
Congenital Toxoplasmosis |
|
Hearing impairment, Abnormality of retinal pigmentation |
ORPHA:858 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransferase concentr... |
OMIM:278000 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, EEG abnormality, Abnormality of visual evoked potentials, Optic... |
ORPHA:2971 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Joubert Syndrome 36 |
|
Highly arched eyebrow, Molar tooth sign on MRI |
OMIM:618763 |
Chilblain Lupus |
|
Skin ulcer, Chronic myelomonocytic leukemia, Erythematous papule |
ORPHA:90280 |
Aplasia Cutis Congenita |
|
Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin |
ORPHA:1114 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Protruding ear, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Aplasia/Hypoplasi... |
ORPHA:2518 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology |
OMIM:214300 |
Camurati-Engelmann Disease |
|
Slender build, Ataxia, Hepatomegaly, Splenomegaly, Anorexia, Cachexia, Leukopenia, Feeding diffic... |
ORPHA:1328 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Coach Syndrome 1 |
|
Ataxia, Hepatomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Nephronophthisis, Unilateral r... |
OMIM:216360 |
Sepsis In Premature Infants |
|
Hepatomegaly, Diarrhea, Vomiting, Reversible renal failure, Gastrointestinal dysmotility, Jaundic... |
ORPHA:90051 |
Giant Cell Arteritis |
|
Ataxia, Abdominal pain, Hepatic failure, Depression, Anorexia, Alopecia, Hematuria, Renal insuffi... |
ORPHA:397 |
Vici Syndrome |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Abnormality of retinal pigmentation,... |
ORPHA:1493 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Ataxia, Abnormal brainstem morphology, Cerebellar vermis hypoplas... |
ORPHA:1532 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Blue sclerae, Low-set ears, Cerebral atrophy, Cerebellar atrophy |
OMIM:619286 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, EEG abnormality, Decreased nerve conduction velocity, Ne... |
OMIM:245200 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte... |
ORPHA:2792 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Abnormality of retinal pigmentation |
ORPHA:2579 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Constipation, Abdominal distention, Dry skin, Large for gestational age, Feeding difficulties in ... |
ORPHA:226313 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal pons morphology, Ataxia, Abnormal medulla oblongata morphology, Gait d... |
ORPHA:206448 |
Central Diabetes Insipidus |
|
Failure to thrive, Depression, Anorexia, Anxiety, Nocturia, Diarrhea, Weight loss, Nausea and vom... |
ORPHA:178029 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Aplasia... |
ORPHA:2715 |
Progeroid Facial Appearance With Hand Anomalies |
|
Conductive hearing impairment, Protruding ear |
OMIM:602249 |
Lateral Meningocele Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2789 |
Micro Syndrome |
|
Abnormal cerebellum morphology, Cerebral cortical atrophy, Abnormality of retinal pigmentation, R... |
ORPHA:2510 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis |
OMIM:235900 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Diarrhea, Vomiting, Weight loss, Jaundice, Feeding difficulties, Abnormal urine ... |
ORPHA:275761 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Abnormal eyebrow morphology, Alopecia, Anorexia, Erythema, Dry skin, Chronic d... |
ORPHA:37 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Erythema, Dr... |
ORPHA:742 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gait imbalance, Inability to walk, Gastroesophageal reflux, Skin ulcer, Penetrating foot ulcers, ... |
ORPHA:36386 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Spastic gait, Urinary retention, Pollakisuria, Tip-toe gait |
ORPHA:447760 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia |
OMIM:300946 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Marshall-Smith Syndrome |
|
Optic atrophy, Conductive hearing impairment, Cerebellar hypoplasia, Blue sclerae |
ORPHA:561 |
Toxic Epidermal Necrolysis |
|
Dysuria, Macule, Pancreatitis, Abdominal pain, Acute hepatic failure, Abnormality of the urethra,... |
ORPHA:537 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Undetecta... |
ORPHA:436245 |
Gorham-Stout Disease |
|
Hearing impairment, Osteomyelitis, Chiari type I malformation, Abnormality of the internal audito... |
ORPHA:73 |
Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Dysphagia, Skin ulcer, Nausea and vomiting, Hypopigmented skin patches |
ORPHA:220402 |
Joubert Syndrome 25 |
|
Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Juvenile Paget Disease |
|
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Undetectable visual evoked potentials, Cerebellar vermis hypoplasi... |
ORPHA:163961 |
Deafness And Myopia |
|
Conductive hearing impairment, Profound hearing impairment |
OMIM:221200 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sensorineural hearing impairment, Truncal ataxia, Gait ataxia, Macrotia, Blue sclerae, Hearing im... |
OMIM:616817 |
Craniometaphyseal Dysplasia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Joubert Syndrome 20 |
|
Renal cyst, Molar tooth sign on MRI, Aggressive behavior, Self-mutilation |
OMIM:614970 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Depression, Cirrhosis, Acute hepa... |
ORPHA:905 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Lichen Planopilaris |
|
Alopecia, Papule, Hepatitis, Skin ulcer, Hypopigmented skin patches, Dermal atrophy |
ORPHA:525 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Hearing impairment, Congenital stationary night blindness, Ab... |
ORPHA:314621 |
Schimke Immunoosseous Dysplasia |
|
Macule, Nephrotic syndrome, Hypermelanotic macule, Lymphopenia, Neutropenia, Small for gestationa... |
OMIM:242900 |
Hemifacial Microsomia With Radial Defects |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:141400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dysgenesis of the cerebellar vermis, Abnormal cerebellum morphology, Renal cortical cysts, Feedin... |
ORPHA:397715 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Melanin pigment aggregation in hair shafts, Hemophagocytosis |
OMIM:607624 |
Christianson Syndrome |
|
Conspicuously happy disposition, Gastroesophageal reflux, Thick eyebrow, Cachexia, Aplasia/Hypopl... |
ORPHA:85278 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Colitis, Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia, Py... |
OMIM:604416 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, Diarrhea, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, A... |
OMIM:150550 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Low-set ears, Interhypothalamic Adhesion, Posteriorly rotated ears, Thickened helices |
OMIM:618929 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Renal tubular acidosis, Hepatomegaly, Abdominal distention, Hepatic failure, I... |
ORPHA:2088 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Hypermelanotic macule, Pancreatitis, Nephrotic range proteinuria, Lymphopenia,... |
ORPHA:1830 |
Pgm3-Cdg |
|
Failure to thrive, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ... |
ORPHA:443811 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Aminoaciduria, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Gait ataxia... |
OMIM:612075 |
Microscopic Polyangiitis |
|
Pancreatitis, Abdominal pain, Peritonitis, Diarrhea, Erythema, Hematuria, Glomerulopathy, Oliguri... |
ORPHA:727 |
Joubert Syndrome 37 |
|
Hepatomegaly, Sparse hair, Micropenis, Cerebellar vermis hypoplasia, Hydronephrosis, Obesity, Mol... |
OMIM:619185 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Abdominal distention, Abdominal pain, Cachexia, Ab... |
ORPHA:83469 |
Ollier Disease |
|
Skin ulcer, Anemia, Subcutaneous nodule |
ORPHA:296 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Skin nodule |
ORPHA:139436 |
Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Hypertensive retino... |
ORPHA:94080 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
ORPHA:2213 |
Cleft Palate, Deafness, And Oligodontia |
|
Bilateral conductive hearing impairment |
OMIM:216300 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Hepatomegaly, Poor suck, Abnormal esophagus physiology, Dysphagia, Gastr... |
ORPHA:2198 |
Huntington Disease |
|
Gait imbalance, Apathy, Inability to walk, Depression, Anxiety, Decreased body mass index, Hostil... |
ORPHA:399 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:133705 |
Isolated Congenital Hypoglossia/Aglossia |
|
Gastrostomy tube feeding in infancy, Weight loss, Nasogastric tube feeding in infancy, Feeding di... |
ORPHA:141152 |
Joubert Syndrome 32 |
|
Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
Mevalonic Aciduria |
|
Ataxia, Progressive cerebellar ataxia, Cerebral atrophy, Skin rash, Attenuation of retinal blood ... |
OMIM:610377 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, M... |
ORPHA:794 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Poor appetite |
ORPHA:312 |
Lateral Meningocele Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Low-set ears, Posteriorly ... |
OMIM:130720 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Xq12-Q13.3 Duplication Syndrome |
|
Cleft earlobe, Eczema, Abnormality of visual evoked potentials, Optic disc pallor, Anterior creas... |
ORPHA:314389 |
Lead Poisoning |
|
Renal tubular dysfunction, Abdominal cramps, Chronic kidney disease, Constipation, Abdominal dist... |
ORPHA:330015 |
Stickler Syndrome, Type I |
|
Sensorineural hearing impairment, Conductive hearing impairment, Membranous vitreous appearance, ... |
OMIM:108300 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Recurrent infection of the gastrointestinal tract, Abdominal pain, Eosinophilia, Mon... |
ORPHA:486 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:607842 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia |
OMIM:251800 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Nail dystrophy |
OMIM:221810 |
Mucopolysaccharidosis Type 3 |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Conductive hearing impa... |
ORPHA:581 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia |
ORPHA:398156 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Failure to thrive, Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainste... |
ORPHA:255182 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Papule |
ORPHA:409 |
Dyskeratosis Congenita |
|
Hepatomegaly, Sparse hair, Hepatic failure, Alopecia, Skin ulcer, Hypermelanotic macule, Splenome... |
ORPHA:1775 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebral cortical atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Cerebellar ... |
OMIM:617802 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Feeding difficulties, Highly arched eyebrow, Nephropathy, Gait disturbance, Cerebellar ve... |
ORPHA:220497 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Cerebral cortical atrophy, Abnormality of visual evoked potentials, Optic atrophy, Choreo... |
ORPHA:702 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Abdominal distention, Abdominal pain, Alopecia, Depression, Anxiety, D... |
OMIM:212750 |
Acrocephalopolydactyly |
|
Hepatosplenomegaly, Protuberant abdomen, Abnormal renal morphology |
ORPHA:221054 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Central heterochro... |
OMIM:275400 |
Arthrogryposis, Distal, Type 5 |
|
Protruding ear, Abnormality of retinal pigmentation |
OMIM:108145 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Diffuse cerebellar atrophy, EEG abnormality, Cerebral atrophy, Abnorma... |
ORPHA:480898 |
Colonic Atresia |
|
Abdominal distention |
OMIM:303650 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Optic atrophy, Cerebellar vermis hypoplasia, Gait ataxia, Blue sclerae, Low-set ears |
OMIM:619383 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Cerebellar cyst, Conductive hearing impairment |
OMIM:601076 |
Acute Transverse Myelitis |
|
Urinary bladder sphincter dysfunction, Paralytic ileus, Constipation, Abscess, Gait disturbance, ... |
ORPHA:139417 |
Parkes Weber Syndrome |
|
Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Erythematous plaque, Sc... |
ORPHA:90307 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the tympanic membrane, Conductive hearing impairment, Abnormality of the auditory ... |
ORPHA:66627 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment |
ORPHA:3145 |
Leigh Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Pigmentary retinopathy |
OMIM:256000 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea |
ORPHA:103907 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Blue sclerae, Protruding ear, Cerebral atrophy |
OMIM:615539 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Thyroid Hemiagenesis |
|
Constipation, Abdominal distention, Jaundice |
ORPHA:95719 |
Charcot-Marie-Tooth Disease, Axonal, Type 2V |
|
Paresthesia, Sensory ataxia, Distal sensory impairment |
OMIM:616491 |
Idiopathic Achalasia |
|
Dysphagia, Weight loss, Gastroesophageal reflux, Malnutrition |
ORPHA:930 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Aplasia cutis congenita on trunk or limbs, Abdominal distention, Skin ero... |
ORPHA:158684 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Abdominal distention, Diarrhea, Hematuria, Vomiting, Renal in... |
ORPHA:35710 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Abdominal distention, Glycosuria, Chronic diarrhea, Hyperactive bowel sounds |
OMIM:606824 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abdominal distention, Tip-toe gait, Cholecystitis, Feeding difficulties in infancy, Gait ataxia, ... |
ORPHA:309256 |
Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment, Abnormality ... |
ORPHA:557003 |
Joubert Syndrome 7 |
|
Ataxia, Nephronophthisis, Renal cyst, Molar tooth sign on MRI, Brainstem dysplasia, Stage 5 chron... |
OMIM:611560 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Abnormal cerebellar vermis morphology, Dilated fourth ventricle, Athetosis, Cerebellar ve... |
ORPHA:357058 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperpigmented nevi, Decreased r... |
ORPHA:2980 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Failure to thrive, Dysplastic corpus callosum, Abdominal distention, Hepatomegaly, Hypochromic mi... |
OMIM:619423 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Abnormality of the ear, Cerebral atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Cerebellar ... |
OMIM:268020 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Sensorineural hearing impairment, Narcolepsy, Ataxia, Optic atrophy, Cerebellar atrophy |
OMIM:604121 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Osteogenesis Imperfecta, Type Xiii |
|
Blue sclerae, Protruding ear |
OMIM:614856 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormality of the kidney, Intestinal obstruction, Subcutaneous nodule,... |
ORPHA:2591 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, Abnormality of... |
ORPHA:2822 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... |
OMIM:608104 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Gastroesophageal reflux, Abdominal distention, Diffuse mesangial s... |
OMIM:256300 |
Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
Letterer-Siwe Disease |
|
Abdominal distention, Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice... |
OMIM:246400 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Skin rash |
ORPHA:290 |
Diastrophic Dysplasia |
|
Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Blue sclerae, Hearing impairment |
ORPHA:628 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment |
ORPHA:1997 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepati... |
OMIM:619644 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Constipation, Abdominal distention, Depression, Anxiety, Anterior hypopituitaris... |
ORPHA:442 |
Craniosynostosis And Dental Anomalies |
|
Conductive hearing impairment, Stapes ankylosis, Papilledema, Absent malleus, Chronic otitis medi... |
OMIM:614188 |
White Forelock With Malformations |
|
Blue sclerae, White forelock, Low-set, posteriorly rotated ears |
ORPHA:2475 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Chronic Hiccup |
|
Depression, Weight loss, Malnutrition |
ORPHA:396 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Cupped ear, Low-set, post... |
ORPHA:246 |
Desbuquois Syndrome |
|
Blue sclerae, Low-set, posteriorly rotated ears |
ORPHA:1425 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Dysphagia, Anemia, Thrombocy... |
OMIM:230900 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Episodic ab... |
ORPHA:100085 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Low-set ears |
OMIM:136760 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura, Thin skin |
ORPHA:743 |
Joubert Syndrome 15 |
|
Ataxia, Molar tooth sign on MRI, Nephronophthisis, Micropenis |
OMIM:614464 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Abnormality of pattern visual evoked potentials, Cerebral atrophy, T2 hypointense thalamu... |
ORPHA:1947 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Lymphopenia, Nephritis, Abdominal pain, Abdominal distention, Alo... |
ORPHA:93552 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Overfolded helix, Conductive hearing impairment, Low-set ears, Blue sclerae |
OMIM:617412 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Pigmentary retinopathy, Cerebellar ... |
ORPHA:502423 |
Donohue Syndrome |
|
Hypertrichosis, Hypermelanotic macule, Abdominal distention, Severe failure to thrive, Cholestasi... |
OMIM:246200 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Ataxia, Self-mutilation, Highly arched eyebrow, Nephropat... |
OMIM:213300 |
Atresia Of Small Intestine |
|
Failure to thrive, Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
Huntington Disease-Like 2 |
|
Apathy, Depression, Anxiety, Weight loss, Irritability |
OMIM:606438 |
Joubert Syndrome 16 |
|
Renal cyst, Molar tooth sign on MRI, Dandy-Walker malformation, Nephronophthisis |
OMIM:614465 |
Thyrotoxic Periodic Paralysis |
|
Constipation, Urinary retention, Obesity, Weight loss, Decreased urinary potassium |
ORPHA:79102 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pancreatitis, Episodic abdominal pain, Abdominal distention, Anorexia, ... |
ORPHA:370348 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, D... |
ORPHA:98755 |
Trisomy 8P |
|
Conductive hearing impairment, Heterochromia iridis, Morphological abnormality of the middle ear,... |
ORPHA:264450 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Optic nerve... |
OMIM:609053 |
Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss, Gastroesophageal reflux |
ORPHA:70482 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... |
OMIM:617622 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Abnormal antitragus morphology, Apl... |
ORPHA:3082 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Hodgkin Lymphoma |
|
Ataxia, Hepatomegaly, Splenomegaly, Anorexia, Weight loss |
ORPHA:98293 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Sensorineural hearing impairment, Pigmentary retinopathy, Blue sclerae, Low-set ears, Posteriorly... |
OMIM:612582 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve m... |
ORPHA:990 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Ataxia |
ORPHA:1861 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Microtia, Stenosis of the external auditory canal,... |
OMIM:616367 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Lennox-Gastaut Syndrome |
|
Personality disorder, Abnormal brainstem morphology, Aggressive behavior, Falls |
ORPHA:2382 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears |
OMIM:617808 |
Pontocerebellar Hypoplasia Type 10 |
|
Long eyelashes, Abnormal brainstem morphology, Highly arched eyebrow, Irritability |
ORPHA:411493 |
Malakoplakia |
|
Dysuria, Abdominal pain, Diarrhea, Hematuria, Papule, Urinary urgency, Urinary hesitancy, Protein... |
ORPHA:556 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Nau... |
ORPHA:65682 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormal pons morphology, Cerebral cortical atrophy, Cerebellar hypoplasia, Pigmentary retinopath... |
ORPHA:370968 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Microtia, Atresia of ... |
ORPHA:2316 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Blue sclerae, Bilateral sensorineural hearing impairment |
OMIM:605282 |
Osteogenesis Imperfecta, Type Xiv |
|
Sensorineural hearing impairment, Blue sclerae |
OMIM:615066 |
Osteogenesis Imperfecta, Type Iv |
|
Blue sclerae, Otosclerosis, Hearing impairment |
OMIM:166220 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... |
OMIM:277900 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain, Abnormality of the peritoneum |
ORPHA:48686 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduc... |
ORPHA:1933 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Inability to walk, Constipation, Gastroesophageal reflux, Depression, Anxiety,... |
DECIPHER:45 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Microtia, Atresia of ... |
OMIM:147770 |
Primary Sjögren Syndrome |
|
Abnormal cerebellum morphology, Chronic active hepatitis, Lymphopenia, Depression, Abnormality of... |
ORPHA:289390 |
Arima Syndrome |
|
Ataxia, Hepatomegaly, Renal tubular atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Nephron... |
OMIM:243910 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Blue sclerae, Hearing impairment |
ORPHA:93359 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Pigmentary retinopathy, Truncal ataxia, Dista... |
OMIM:617675 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Hearing impairment, Protruding ear |
OMIM:608572 |
Alpha-Mannosidosis, Adult Form |
|
Ataxia, Cerebral cortical atrophy, Mixed hearing impairment, Optic disc pallor, Cerebellar atroph... |
ORPHA:309288 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Decreased nerve conducti... |
ORPHA:206443 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Decreased response to growth hor... |
OMIM:601808 |
Cooper-Jabs Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Abnormality of the middle ... |
ORPHA:1488 |
Xeroderma Pigmentosum, Complementation Group B |
|
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Pigmentary retinop... |
OMIM:610651 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Ataxia, Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Feeding difficulties, Abdominal pa... |
OMIM:615688 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Sensory ataxia, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Impaired... |
OMIM:609033 |
Cushing Disease |
|
Abdominal obesity, Sparse scalp hair, Hirsutism, Lymphopenia, Leukocytosis, Depression, Pituitary... |
ORPHA:96253 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Atresia of the external auditory canal, Bilateral conductive hearing impairment |
ORPHA:2010 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... |
ORPHA:85450 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Papule, Inflammation of the large intestine, Atrophic scars, Skin ulcer, Skin v... |
ORPHA:48104 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Vomiting, Increased mean platelet volume, Feeding difficulties in infancy, ... |
OMIM:300048 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:239800 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Cholestatic liver disease, Abdominal distention, Vomiting, Chronic diarrhea, W... |
ORPHA:92050 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sensorineural hearing impairment, Blue sclerae, Cerebellar hypoplasia, Macrotia |
ORPHA:391408 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Self-mutilation, Thickened glomerular basement membrane, Proteinuria, Weight loss, ... |
OMIM:619487 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Weight loss |
ORPHA:168816 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Retinal degeneration, Cerebral atrophy, Aspiration pneumon... |
ORPHA:79264 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... |
ORPHA:206436 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer, Aplasia cutis congenita |
ORPHA:1117 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Constipation, Enterocolitis, Abdominal distention, Small intestinal dysmotilit... |
ORPHA:95427 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Hearing impairment, Pigmentary retinopathy, Ataxia |
OMIM:560000 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, EEG abnormality, Retinal detachment, Chronic otitis media, Impaire... |
ORPHA:819 |
Crouzon Syndrome |
|
Keratitis, Conductive hearing impairment, Atresia of the external auditory canal, Optic atrophy, ... |
OMIM:123500 |
Refsum Disease |
|
Sensorineural hearing impairment, Retinopathy, Ataxia, Abnormality of retinal pigmentation |
ORPHA:773 |
Kbg Syndrome |
|
EEG abnormality, Bilateral conductive hearing impairment, Macrotia |
ORPHA:2332 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... |
OMIM:612290 |
Kaposi Sarcoma |
|
Macule, Hypermelanotic macule, Diarrhea, Abnormality of the spleen, Papule, Skin plaque, Skin nod... |
ORPHA:33276 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Hearing impairment, Mixed hearing impairment, Conductive hearin... |
OMIM:118100 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Molar tooth sign on MRI |
OMIM:612285 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment |
ORPHA:1006 |
Usher Syndrome |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Abnormality of retinal pigme... |
ORPHA:886 |
Braddock Syndrome |
|
Overfolded helix, Blue sclerae, Posteriorly rotated ears |
ORPHA:52047 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Erythematous macule, Hypereosinophilia, Erythematous papule, Leukemia |
ORPHA:157991 |
Kniest Dysplasia |
|
Conductive hearing impairment, Retinal detachment, Recurrent otitis media |
OMIM:156550 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Alopecia, Anorexia, Organic aciduria, Weight loss, Thrombocytopenia, Nausea and vomiting,... |
ORPHA:79242 |
Diarrhea 12, With Microvillus Atrophy |
|
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition |
OMIM:619445 |
Cap Polyposis |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Weight loss |
ORPHA:160148 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Low-set ears, Recurrent otitis media |
OMIM:608545 |
Isolated Cleft Lip |
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