Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
Sprengel Deformity |
|
Torticollis, Shoulder muscle hypoplasia, Cleft palate, Abnormal shoulder morphology, Abnormality ... |
ORPHA:3181 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Neonatal deat... |
OMIM:253310 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia... |
ORPHA:251061 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Bor Syndrome |
|
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... |
ORPHA:107 |
Branchiootorenal Syndrome 1 |
|
High palate, Vesicoureteral reflux, Conductive hearing impairment, Microdontia, Bifid uvula, Faci... |
OMIM:113650 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Unilateral deafness |
OMIM:612097 |
Congenital Patella Dislocation |
|
Aplasia/Hypoplasia of the quadriceps, Genu valgum, Knee flexion contracture, Patellar dislocation... |
ORPHA:295036 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Underdeveloped nasal alae, Short... |
OMIM:616549 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia, Neck muscle hypoplasia |
OMIM:184400 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Carcinoid tumor, Abnormality of the auditory ... |
ORPHA:100084 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla... |
OMIM:614669 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Absent tragus, Accessory oral frenulum, Micrognathia, Hypoplasia of the ... |
ORPHA:79113 |
Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ... |
ORPHA:705 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Bifid uvula, Depre... |
OMIM:301022 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Kne... |
OMIM:305620 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Wide nose, Epicanthus, Aplasia of the thymus, Synophrys, Hypoc... |
ORPHA:96123 |
Ring Chromosome 8 Syndrome |
|
Epicanthus, Anteverted nares, Abnormality of the ureter, Round ear, Short nose, Hydronephrosis, A... |
ORPHA:1450 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... |
OMIM:609813 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy |
ORPHA:1513 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hypospadias, Malar prominence, Micrognathia, Short neck, Hyperlordosi... |
ORPHA:2522 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Recurrent urinary tract infections, Apnea, Prominent nose, Optic atrophy... |
OMIM:619527 |
Becker Nevus Syndrome |
|
Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs, Sh... |
ORPHA:64755 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Micrognathia, Downturned corners of mouth, Choanal stenosis, Gastroesophageal reflux, Severe sens... |
OMIM:620186 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Flexion contracture, Short philt... |
OMIM:620369 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal oral mucosa morphology, Micr... |
ORPHA:1968 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Abnormal pinna morphology, Hypospadias, Micrognathia, Anencep... |
OMIM:236680 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Tor... |
ORPHA:2790 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Limited wrist... |
ORPHA:602 |
Meier-Gorlin Syndrome 8 |
|
Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears, Decreased body weight |
OMIM:617564 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Lipedema |
|
Edema |
OMIM:614103 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplas... |
ORPHA:861 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Hypoplasia of the max... |
ORPHA:245 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Apnea, Micrognathia, Synophrys, Deep philtrum, Opisthotonus, Choreoathet... |
OMIM:614969 |
Distal 17P13.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Limited elbow movement, Generalized joint laxity, Protruding ear, High pa... |
ORPHA:319171 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Limitation of j... |
ORPHA:3145 |
Wieacker-Wolff Syndrome |
|
Apnea, Micrognathia, High palate, Neonatal respiratory distress, Anteverted nares, Facial palsy, ... |
OMIM:314580 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Upslanted palpebral fissure, Long eyela... |
OMIM:618608 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Protruding ear, Genu valgum, Joint hype... |
ORPHA:1778 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Depressed nasal bridge, Decreased response to growth hormone stim... |
OMIM:618223 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
17Q21.31 Microduplication Syndrome |
|
Epicanthus, Anteverted nares, Abnormality of the dentition, Micrognathia, Synophrys, High palate,... |
ORPHA:217340 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... |
OMIM:602450 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Childhood-Onset Nemaline Myopathy |
|
Micrognathia, Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, High ... |
ORPHA:171439 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Scapular winging, Hypoplasia of the cochlea, Cupped ear, High palate, C... |
OMIM:166780 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Abnorma... |
ORPHA:1798 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Gastroesophageal reflux, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, L... |
OMIM:614701 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, A... |
ORPHA:293939 |
Toluene Embryopathy |
|
Micrognathia, Cryptorchidism, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ... |
ORPHA:1920 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Aplasia/Hyp... |
ORPHA:3236 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Apnea, Rigidity, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Low-s... |
OMIM:610127 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Joubert Syndrome 3 |
|
Central apnea, Epicanthus, Anteverted nares, Ataxia, Highly arched eyebrow, Episodic tachypnea, W... |
OMIM:608629 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea, Micrognathia, Tremor, Flexion contracture, Choreoathetosis, High palate, Male hypogonadism... |
OMIM:300055 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis... |
ORPHA:1452 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Micrognathia, Respiratory insufficiency due to muscle weakness, Flexion c... |
ORPHA:171442 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hearing impairment, Hand muscle weakness, Action tremor, ... |
ORPHA:254886 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Respiratory distress, Telecanthus, Tented upper lip vermilion, Depressed nasal br... |
ORPHA:314655 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... |
ORPHA:87 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Abnormal rib morphology, Rib fusion, Cleft palate, Orofaci... |
ORPHA:1988 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Distal Deletion 10Q |
|
Clonus, Prominent nose, Micrognathia, Functional abnormality of the bladder, Short metatarsal, Pr... |
ORPHA:96148 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Low-set, posteriorly rotated ears, Preauricular pit, Hypospadias, Abnormality ... |
ORPHA:1786 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Preauricular skin furrow, Craniosynost... |
ORPHA:1555 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Oligodontia, Short phalanx of fin... |
ORPHA:1826 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Re... |
ORPHA:83 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... |
ORPHA:958 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Cleft upper lip, Flexion contracture, Cle... |
OMIM:312150 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, High palate, Hypoplasia of the musculature |
ORPHA:85323 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Joint stiffness, Radial deviation o... |
ORPHA:1388 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Anteverted nares, Prominent nasal bridge, Depressed nasal... |
OMIM:617796 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Congenital diaphragma... |
ORPHA:2311 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Micrognathia, Aplasia of the se... |
ORPHA:648 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Ataxia, Apnea, Dyspnea, Sensorineural hearing impairment,... |
OMIM:615636 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic... |
ORPHA:2549 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ... |
ORPHA:1110 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Micromelia, Flexi... |
OMIM:610015 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Snakebite Envenomation |
|
Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, Muscle fiber necrosis, R... |
ORPHA:449285 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... |
ORPHA:3253 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Aggressive behavior, Macrotia... |
OMIM:609425 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Distal Deletion 1Q |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Thin vermilion border, Low-set ears, Smooth phi... |
ORPHA:36367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Congestive heart failure,... |
OMIM:619048 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Ptosis, Telecanthus, Anteverted nares, Prominent nasal bridge,... |
ORPHA:949 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Apnea, Micrognath... |
OMIM:602483 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Sensorin... |
ORPHA:1131 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Apnea, Tremor, Gastroesophageal reflux, Chronic otitis media, Ataxia, Abnorm... |
ORPHA:10 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:560 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Anteverted nares, Prominen... |
ORPHA:220497 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypoplasia of penis, Hypogonadotropic hypogonadism, Joint stiffness, An... |
ORPHA:1295 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... |
ORPHA:2141 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Depressed nasal bridge, Anteverted nares, Clonus, ... |
OMIM:617301 |
3Mc Syndrome 2 |
|
Torticollis, Diastasis recti, Hypoplasia of the musculature, Cleft upper lip, Partial abdominal m... |
OMIM:265050 |
Warsaw Breakage Syndrome |
|
Epicanthus, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, Wide mouth, High palate, ... |
OMIM:613398 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Crypto... |
ORPHA:193 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares, Long philtrum |
ORPHA:3074 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Underdeveloped nasal alae, Prominent nose, Conical tooth, Sensorineural hearing impairment, Synop... |
ORPHA:90024 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment |
ORPHA:85179 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Unilateral renal agenesis, Broad nasal tip, A... |
OMIM:617190 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Muscle fiber necrosis, Generalize... |
OMIM:258450 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Hydrocephalus, R... |
ORPHA:163961 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,... |
OMIM:158900 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Anteverted nares, Microg... |
ORPHA:2015 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con... |
OMIM:254940 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Apnea, Cryptorchidism, Thick lower lip vermilion, Widely spaced teeth,... |
OMIM:619797 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Flexion contracture, Cleft palate, Thin r... |
OMIM:253290 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta... |
OMIM:136760 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the spleen, Abnormality of the ure... |
ORPHA:2487 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set... |
OMIM:617333 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep... |
ORPHA:2162 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Thin upper lip vermilion, Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impai... |
OMIM:617854 |
Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Narrow chest, Bifid ribs, Sprengel anomaly... |
ORPHA:1394 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Wide nose, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Subm... |
OMIM:619227 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Facial hypotonia, Hearing impairment, Microgna... |
OMIM:618578 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasa... |
OMIM:608363 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Vocal cord paralysis, Renal cyst,... |
ORPHA:798 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1812 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Cleft pala... |
ORPHA:2345 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Sensorineural hearing impairment, Optic a... |
OMIM:601338 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Patellar hypoplasia, Micropenis, Abnormality of the kidney, Highly arched eyebrow, Cryptorchidism... |
ORPHA:495818 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... |
ORPHA:206549 |
Monosomy 13Q34 |
|
Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Epistaxis, Broad nasal tip, Promine... |
ORPHA:96168 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Dental crowding, Underdevel... |
OMIM:619941 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment,... |
OMIM:122880 |
Glass Syndrome |
|
Dental crowding, Apnea, Conical tooth, Long nose, Micrognathia, Oligodontia, High palate, Antever... |
OMIM:612313 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Vertigo, Leukocytosis, Gingival overgrowt... |
ORPHA:520 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, Optic atrop... |
OMIM:618766 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse... |
ORPHA:1832 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Short philtrum, Holoprosencephaly, Small earlobe, Media... |
ORPHA:1449 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Patchy distortion of vertebrae, Depressed nasal bridge, Hypoplasia of the ... |
ORPHA:1248 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Gait ataxia, Upper limb muscle weakness, C... |
ORPHA:1435 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tract infections, Optic atro... |
ORPHA:3078 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Cleft palate, Joint contracture, Hypoplasia of the musculature, Pterygium |
OMIM:225790 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Glossoptosis, High palate, Squared iliac bones, Rib fusion, Ulnar... |
OMIM:611209 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Wide nasal bridge, Aplasia/Hypoplasia of the external ear, ... |
ORPHA:168486 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa... |
OMIM:619841 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Parapares... |
OMIM:615157 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Short neck, Hyperlordosis, Wide nasal bridge, High palate, Hypoplasia of t... |
ORPHA:710 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Apnea, Elbow contracture, Prominent nasal bridge,... |
OMIM:611523 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Cleft upper lip, Short neck, Sensorineural hearing impairment, Cleft p... |
OMIM:214300 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Posterior rib fusion |
ORPHA:1797 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Moderate hearing impairment, Upper limb muscle weaknes... |
ORPHA:370010 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Block vertebrae, Rib fusion, Vertebral fusion |
OMIM:277300 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Dental crowding, Hypoplasia of the musculature, Ankl... |
ORPHA:2020 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, Cryptorchidism... |
OMIM:618393 |
Lamb-Shaffer Syndrome |
|
Broad nasal tip, Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion borde... |
ORPHA:530983 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,... |
ORPHA:1703 |
Joubert Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Aganglionic megac... |
ORPHA:475 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col... |
ORPHA:485 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Ureteral stenosis, Apnea, Abnormal hemidiaphragm morphology, Neonatal respiratory dis... |
ORPHA:2257 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Central apnea, Camptodactyly of finger, Cleft palate, Abnormal... |
ORPHA:1617 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Giant Cell Arteritis |
|
Ptosis, Renal insufficiency, Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Diabetes insi... |
ORPHA:397 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... |
OMIM:617402 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Malar prominence, Wide mouth, Large earl... |
ORPHA:2715 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Hypoplastic nasal septum, Short philtrum, Lower limb undergrowth, C... |
OMIM:186500 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Anteverted nares, Prominen... |
ORPHA:2318 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Downturned corners of mo... |
ORPHA:955 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,... |
ORPHA:2306 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of ... |
ORPHA:915 |
Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Ataxia, Hamartoma of tongue, Apnea, Low-set ears, Oculomotor apraxia, Ret... |
OMIM:617563 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Apnea, Micrognathia, Abnormal pyramidal sign, Hypertonia, High palate... |
OMIM:617527 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Renal hypoplasia... |
ORPHA:2863 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Prolonged bleeding time, Proteinuria, Myoc... |
ORPHA:182050 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, H... |
ORPHA:990 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Bowing of the legs, Carious teeth, Craniosynostosis, Myopathy, R... |
OMIM:241510 |
Atelosteogenesis, Type I |
|
Encephalocele, Depressed nasal bridge, Micrognathia, Short neck, Cryptorchidism, Thoracic platysp... |
OMIM:108720 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Splenomegaly, Depressed nasal ridge, Reduced... |
ORPHA:742 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus ex... |
ORPHA:2990 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Cleft palate, Fusion of middl... |
OMIM:613717 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Apnea, Promi... |
ORPHA:85201 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... |
ORPHA:101110 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Bilateral cryptorchidism, Congestive heart failure, Bulbous nose, Pneumothorax, Wide n... |
OMIM:617403 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Lateral Meningocele Syndrome |
|
Telecanthus, Neurogenic bladder, Posteriorly rotated ears, Decreased muscle mass, Dental crowding... |
OMIM:130720 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Cerebral palsy, Epistaxis, Nausea, Spastic paraplegia, Nephrolithiasis, Abno... |
ORPHA:369929 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... |
ORPHA:2635 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Increased muscle lipid content, Knee flexion contracture, High palat... |
OMIM:608836 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Micr... |
OMIM:273395 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... |
OMIM:620285 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormal... |
ORPHA:1695 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, H... |
ORPHA:261120 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93924 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Hydrocephalus, Wi... |
OMIM:613603 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Tenorio Syndrome |
|
Mandibular prognathia, Wide nose, Telecanthus, Anteverted nares, Cerebral palsy, Apnea, Raynaud p... |
OMIM:616260 |
Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, ... |
OMIM:616367 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Widely spaced teeth, Cough, Chronic otitis media, Microdontia, Thick nasal alae... |
ORPHA:579 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment |
OMIM:618939 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Tr... |
OMIM:277720 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased propor... |
ORPHA:83471 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Vertebral fusion, Down-slo... |
OMIM:109400 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Palpebral edema, Apnea, Micrognathia, Cryptorchidism, Optic nerve dysplasia, Cleft pa... |
OMIM:214110 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Epicanthus, Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, U... |
OMIM:248910 |
Brooke-Spiegler Syndrome |
|
Abnormal bleeding, Facial palsy, Hearing impairment, Salivary gland neoplasm, Abnormality of the ... |
ORPHA:79493 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia, Spasticit... |
OMIM:616277 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Micrognathia, Deep philtrum, Hypertonia, Short philtrum, Depressed nasal bridge, Anteverted nares... |
OMIM:615834 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Hem... |
OMIM:214800 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Limitation of joint mobility, Abnormal rib morpholo... |
ORPHA:1486 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Ha... |
ORPHA:261197 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormality of the max... |
ORPHA:141099 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Congenital diaphragmatic... |
ORPHA:1780 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Smooth philtrum, Mandibular prognathia, Craniofacial hyperosto... |
ORPHA:1133 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Micrognathia, Opisthotonus, Neonatal death, Depressed nasal bridge, ... |
OMIM:608013 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Primary Familial Polycythemia |
|
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Dyspnea, Vertigo, Cough, Polycythemia, Exertio... |
ORPHA:90042 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the... |
ORPHA:776 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Prolonged bleeding after dental extract... |
OMIM:202400 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Pro... |
ORPHA:1454 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Conductive hearing impairmen... |
OMIM:608572 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... |
ORPHA:2750 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Generalized amyotrophy |
OMIM:616540 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kinetic tremor, Sensorineural hearing impairment, Renal hypoplasia, Ga... |
OMIM:616817 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microgn... |
ORPHA:1387 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Tracheobronchomalacia, Protruding ear, Micr... |
OMIM:613458 |
Waardenburg Syndrome, Type 2E |
|
Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, D... |
OMIM:611584 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micromelia, Abnormality of the ureter, High ... |
ORPHA:1035 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Br... |
ORPHA:100984 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Cryptorchidism, Osteoarthritis, General... |
OMIM:618000 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Anteverted nares, Broad... |
OMIM:615583 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, High, narrow palate, Ul... |
ORPHA:1101 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:616726 |
Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Anteverted nares, Prominent nasal bridge, Highl... |
ORPHA:220493 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Prot... |
ORPHA:1495 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Broad nasal tip, ... |
ORPHA:480907 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Hypoplasia of penis, Abnormality of the philtrum, Prominent nasal bridge, Camptodacty... |
ORPHA:3409 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Open bite, Abnormal cortical bone morphology, Abnorm... |
ORPHA:2097 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin... |
OMIM:168000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hearing impairment |
OMIM:615996 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Choanal stenosis,... |
OMIM:101200 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Aplasi... |
ORPHA:264450 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:3068 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Narrow pal... |
ORPHA:207 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Cough, Abnormal oral cavity morphology, Chronic otitis m... |
ORPHA:900 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Apnea, Micrognathia, Glossoptosis, Small earlobe, Low-set, posterio... |
ORPHA:2886 |
Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Cleft upper lip, Cryptorc... |
OMIM:616145 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Full cheeks, ... |
ORPHA:261295 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Split-Hand/Foot Malformation 3 |
|
Abnormal pinna morphology, Renal hypoplasia |
OMIM:246560 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, Tremor, Lobulated tongue, High... |
ORPHA:2754 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Purpura, Ataxia, Epistaxis, ... |
ORPHA:33226 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hadziselimovic Syndrome |
|
Failure to thrive, Posteriorly rotated ears, Renal hypoplasia, Low-set ears |
OMIM:612946 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary... |
ORPHA:251274 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Ataxia, Portal hyperte... |
OMIM:609136 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... |
OMIM:309620 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Proximal amyotrophy, Pect... |
OMIM:605355 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Underdeveloped nasal alae, Prominent no... |
ORPHA:2471 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... |
ORPHA:1488 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Spastic tetraparesis, Underdeveloped nasal alae,... |
ORPHA:435628 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Perlman Syndrome |
|
Epicanthus, Hypoplasia of penis, Anteverted nares, Posteriorly rotated ears, Nephroblastoma, Micr... |
ORPHA:2849 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... |
ORPHA:240103 |
Ravine Syndrome |
|
Spasticity, Ataxia, Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Multiple small vertebral fractures, Osteoporosis of vertebrae, Platysp... |
OMIM:156510 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... |
OMIM:211380 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Oral ulcer |
ORPHA:46488 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Low-set ears, Decreased body weight, Micropenis, Hearing impairment |
OMIM:617926 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Diarrhea, H... |
ORPHA:99745 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Midface retrus... |
OMIM:618737 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Ventricular tachyca... |
OMIM:212138 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Tented upper lip vermilion, Apne... |
ORPHA:521426 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Gastroesop... |
ORPHA:254892 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,... |
OMIM:618388 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E... |
OMIM:613885 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... |
OMIM:617519 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of... |
ORPHA:90103 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Tremor, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by ill... |
OMIM:312170 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Abnormality of the nose, Tremor, Rigidity, Hyperhidrosis, Bradykinesia, Hypomimic... |
ORPHA:70594 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Lowry-Maclean Syndrome |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narro... |
ORPHA:2409 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy, Spasticity, Flexion contracture, Broad nasal tip |
ORPHA:500545 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive manner... |
OMIM:618718 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Protr... |
ORPHA:85279 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Low-set ears |
OMIM:617661 |
Wyburn-Mason Syndrome |
|
Cerebral palsy, Epistaxis, Cerebral hemorrhage, Subarachnoid hemorrhage, Hemiparesis, Gingival bl... |
ORPHA:53719 |
Kbg Syndrome |
|
Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Anteverted nares... |
ORPHA:2332 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorc... |
ORPHA:1340 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Abnormal pinna morphology, Neonatal insulin-dependent diabetes mellitus, Abno... |
ORPHA:556955 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Camptodactyly of finger, Abnormal pinna morphology, Abnormality of the dentiti... |
ORPHA:178303 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Spastic tetraparesis, Underdeveloped nasal alae,... |
OMIM:614098 |
Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy, Tongue atrophy |
OMIM:254300 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypospadias, Dental crowding,... |
OMIM:615761 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Unilateral renal agenesis, Short neck,... |
OMIM:118100 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Apnea, Micrognathia, Tachypnea, Abnormal optic disc morphology, Gastroes... |
ORPHA:397715 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Deep philtrum, High palate,... |
OMIM:617137 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Nausea, Abnormal circulating renin, Intracranial hemorrhage, Hype... |
ORPHA:403 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... |
ORPHA:331 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ... |
ORPHA:466722 |
Charge Syndrome |
|
Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Abnormality of bone min... |
ORPHA:138 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged... |
ORPHA:849 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Protruding ear, Knee f... |
OMIM:614976 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Depressed nasal bridge, Anteverted nares, Hypospadias, Spastic tetraparesis, Renal ag... |
ORPHA:171839 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned corners of mouth, Short... |
ORPHA:1507 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi... |
ORPHA:40366 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Ptosis, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Abnormal... |
OMIM:619862 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nar... |
OMIM:614744 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Cle... |
OMIM:213980 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment |
OMIM:615706 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Irregular femoral epiphysis, Pectus carinatum, Skeletal muscle hypertrophy, Bell-shaped thorax, G... |
OMIM:255710 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Macrodontia, Joint stiffness, Pectus excavatum, High, narrow palate, Abn... |
ORPHA:3242 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Cryptorch... |
OMIM:615524 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencep... |
OMIM:618500 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment |
ORPHA:3246 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Ab... |
ORPHA:166100 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Hiatus hernia, Cleft upper lip, Malabsorption, Missing rib... |
ORPHA:50 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia |
ORPHA:721 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Vesicoureteral reflux, Conductive hearing impairment, Joint laxi... |
OMIM:157800 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ... |
ORPHA:90653 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Splenomegaly, Abnormali... |
ORPHA:1046 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeve... |
ORPHA:920 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... |
OMIM:268310 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Skeletal muscle atrophy, Thin upper lip ... |
OMIM:615419 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Ab... |
ORPHA:404 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Hand tremor, Gait ataxia, Muscle fiber necrosi... |
OMIM:157640 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Apnea, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscl... |
OMIM:617235 |
Purpura Simplex |
|
Ptosis, Epistaxis, Menorrhagia, Bruising susceptibility, Purpura |
OMIM:179000 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ... |
ORPHA:1520 |
Poliomyelitis |
|
Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Abnormal skeletal muscle morp... |
ORPHA:2912 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Prominent... |
ORPHA:1307 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Thrombocytopenia, Splenomegaly, Enlarged kid... |
OMIM:617303 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, High palate, Gastroesophageal ... |
OMIM:300373 |
Developmental And Epileptic Encephalopathy 63 |
|
Conductive hearing impairment, EEG with generalized epileptiform discharges |
OMIM:617976 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Conductive hearing impairment, ... |
ORPHA:2363 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy... |
ORPHA:1790 |
Rubinstein-Taybi Syndrome 2 |
|
Prominent nose, Micrognathia, High palate, Posterior helix pit, Highly arched eyebrow, Talon cusp... |
OMIM:613684 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Micrognathia, Congenital contracture, Hypertonia, Short philtrum, Joint contracture of the 5th fi... |
ORPHA:352490 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Lymphatic Malformation 13 |
|
Unilateral deafness |
OMIM:620244 |
Factor V And Factor Viii, Combined Deficiency Of, 2 |
|
Menorrhagia, Epistaxis, Persistent bleeding after trauma |
OMIM:613625 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... |
ORPHA:464329 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Abnormal f... |
ORPHA:93262 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy... |
OMIM:236500 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cryptorchidism, Cleft palate, Pro... |
ORPHA:1166 |
Endocardial Fibroelastosis |
|
Low-set, posteriorly rotated ears, Telecanthus, Hypoplasia of penis, Micrognathia, Cryptorchidism... |
ORPHA:2022 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... |
OMIM:609821 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,... |
OMIM:608978 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
ORPHA:2213 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose,... |
OMIM:613604 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasia of the patella, Sensorineural... |
ORPHA:3320 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Apnea, Abnormal pyramidal sign, Optic atrophy... |
OMIM:618228 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Almond-shaped pa... |
ORPHA:171829 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asple... |
OMIM:185070 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness |
ORPHA:1010 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Preauricular skin tag, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment |
OMIM:132450 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Optic atrophy,... |
OMIM:617595 |
Cornelia De Lange Syndrome 5 |
|
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Widely spaced teeth, Gastroeso... |
OMIM:300882 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou... |
ORPHA:96169 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Prominent nose, Micrognathia, Chorea, Protruding ear, High palate, Gastroesophageal reflux, Hypot... |
OMIM:618829 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Rectal prolapse, Short metatarsal, High palate, Gastroesophageal reflux, Short m... |
OMIM:617157 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:604292 |
Ohdo Syndrome |
|
Ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Sparse e... |
OMIM:249620 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Ataxia, Apnea, Spastic tetraparesis, Sensorineural hearing impairment, Chor... |
ORPHA:79097 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... |
OMIM:183050 |
Otofaciocervical Syndrome |
|
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... |
ORPHA:2792 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... |
ORPHA:52368 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphad... |
OMIM:614034 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with ... |
ORPHA:240085 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemip... |
ORPHA:71277 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Gastroesophageal reflux, Depre... |
OMIM:613792 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Thin ribs, Con... |
OMIM:615368 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Apnea, High, narrow palate, Narrow palate, Darwin tubercle of helix, Myoclonus, ... |
OMIM:612949 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231169 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Cryptorchidism, Cleft lip, Kyphosis, Limited pronation/supination... |
ORPHA:1724 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... |
OMIM:617225 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Midface ret... |
ORPHA:2776 |
Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy,... |
ORPHA:166108 |
Cln3 Disease |
|
Vacuolated lymphocytes, T-wave inversion, Bradycardia, Left ventricular hypertrophy, Urinary blad... |
ORPHA:228346 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Posteriorly rotated ears, Dental crowding, Abnormality of ... |
ORPHA:2789 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow or... |
OMIM:268300 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Renal hypoplasia/apla... |
ORPHA:1770 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Primary Release Disorder Of Platelets |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia |
OMIM:176630 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea, Optic atrophy, Spasticity, High palate, Thick vermilion border, Open mouth |
OMIM:617933 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious behavior, Abnormal... |
OMIM:618914 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites |
OMIM:614702 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Micromelia, Micrognathia, Hypertonia, High palate, Wrist flexion ... |
ORPHA:800 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy, High palate, N... |
OMIM:300219 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:607136 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Periodic paralysis, Bilateral ptosis, High palate, Ptosis |
OMIM:614198 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Micrognathia, Hypertonia, Myoc... |
ORPHA:166063 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... |
OMIM:128230 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bri... |
ORPHA:989 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Abnor... |
ORPHA:98755 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, ... |
OMIM:102700 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Ina... |
ORPHA:79330 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... |
OMIM:213600 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Telecanthus, Posteriorly rotated ears, Anteverted nares, Camptodacty... |
ORPHA:2462 |
Ramon Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
ORPHA:3019 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Limbal dermoid, Cleft lip, ... |
ORPHA:398156 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Stapes ankylosis, Wide nose, Papilledema, Depressed nasal bridge, Conv... |
OMIM:614188 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... |
ORPHA:171430 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Central diaphragmatic hernia, ... |
OMIM:614608 |
Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossopt... |
OMIM:602535 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... |
ORPHA:324636 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Ankle swelling, Congenital diaphragmatic hernia, Mi... |
OMIM:166300 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Downturned corners of mouth, Short philtrum,... |
OMIM:619320 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Shoulder dislocation, Choanal stenosis, Vesicoureteral reflux, S... |
OMIM:607323 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Renal hypoplasia, Protr... |
ORPHA:85284 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali... |
ORPHA:590 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Epicanthus, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Wide nasal bridge, Short phil... |
ORPHA:1516 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Mu... |
OMIM:613869 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Urinary incontinence, Hearing impairment, Parkinsonism, Action t... |
OMIM:300623 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Low-set ears |
OMIM:616910 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Epicanthus, Hemifacial spasm, Anteverted nares, Ataxia, Highly ... |
OMIM:213300 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Synophrys, Microtia, E... |
ORPHA:357175 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper mot... |
OMIM:500001 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine... |
OMIM:618418 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Cleft Velum |
|
Recurrent otitis media, Conductive hearing impairment |
ORPHA:99772 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Broad nasal tip, Micro... |
ORPHA:3459 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Recurrent pharyngitis, Chorea, Aplasia/Hypoplasia of the abdo... |
ORPHA:3099 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Apnea, Vomiting, Myoclonus, Death in childhood, Lethargy, Spasticity, Ptosis |
OMIM:618225 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abnormal rib mo... |
ORPHA:93351 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Urinary incontinence, Optic atrophy, Limb ataxia, Gait ataxia, Ur... |
ORPHA:98768 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear |
OMIM:618302 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy |
ORPHA:791 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Depressed nasal bridge, Elbow dislocation, Hypoplastic frontal si... |
ORPHA:90650 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Synophrys, Downturned ... |
OMIM:615162 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Thin upper lip vermilion, Apnea, Respiratory insufficiency, Upslanted palpebral fissure, Hyperton... |
OMIM:617290 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Wide nose, Apnea, Vomiting, Sensorineural hearing impairment |
ORPHA:137754 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, R... |
OMIM:613686 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Diarrhea, Cardiore... |
ORPHA:99828 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Involuntary movements, Respiratory insufficiency, High palate, Gastroesophageal reflux, Sp... |
ORPHA:209370 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Dyspha... |
OMIM:109150 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Osteoporos... |
ORPHA:231226 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... |
OMIM:121300 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, High palate, Conductive hearing impairment, ... |
OMIM:201000 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathi... |
OMIM:263210 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th... |
ORPHA:508498 |
Trisomy 20P |
|
Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ... |
ORPHA:261318 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnor... |
ORPHA:2671 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bone... |
OMIM:278250 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... |
OMIM:602390 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Submucous cleft hard palate, Cleft palate, Muscular dystrophy, Metatarsu... |
ORPHA:899 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Decreased response to growth hormone stimulation test, Unilateral renal agenesis,... |
OMIM:609757 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Choanal atresia, Lacrimal duct stenosis, Cleft soft palate, Micrognathia,... |
OMIM:154500 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Constipation, Parkinsonism with ... |
OMIM:616710 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Anteverted na... |
OMIM:618342 |
Distal Duplication 6P |
|
Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormal antitragus morphology, Abnormality... |
ORPHA:1745 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, Facia... |
OMIM:218000 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Diarrhea... |
ORPHA:91547 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Hyp... |
ORPHA:581 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Anteverted nares, Joint hypermobility, Hearing ... |
ORPHA:481152 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Prominent nose, Micrognathia, Flexion contracture, ... |
ORPHA:261290 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment |
ORPHA:2698 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral... |
ORPHA:628 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Short middle phalanx of finger, Low... |
OMIM:612626 |
Chung-Jansen Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Cryptorchidism, Synophrys, Upslanted palpebral fissur... |
OMIM:617991 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Micrognathia, Knee flexion contracture, Upslanted palpebral fissure,... |
OMIM:619694 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal d... |
ORPHA:2916 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment |
ORPHA:1006 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:619267 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment |
OMIM:618497 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Nausea, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231625 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Ecchymosis, Bruising su... |
OMIM:614201 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:619473 |
Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Depressed nasal bridge, Micrognathia |
ORPHA:1918 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte... |
OMIM:615888 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Abnormality of the philtrum, Abnormality o... |
ORPHA:276422 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi... |
ORPHA:377 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol... |
OMIM:619092 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Abnormal skeletal musc... |
ORPHA:314652 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea, Vertigo, Slurred speech, Episodic ataxia, Nausea |
ORPHA:140927 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:300946 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... |
ORPHA:3456 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... |
ORPHA:1959 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... |
ORPHA:521406 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Apnea, Micrognathia, Flexion contracture, Dysmetria, Gastroesophagea... |
ORPHA:98889 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Facial palsy |
OMIM:614688 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Anosmia, Spastic... |
OMIM:606693 |
Juvenile Nasopharyngeal Angiofibroma |
|
Nasal congestion, Juvenile colonic polyposis, Epistaxis |
ORPHA:289596 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Short philtrum, Gastr... |
ORPHA:819 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Apnea, Sensorineural hearing impairment, Opisthotonus, Hypertonia, Hyper... |
OMIM:616896 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repetiti... |
OMIM:619150 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Bulbous nose, Non-midline cleft lip, Optic atr... |
ORPHA:1636 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spas... |
OMIM:300423 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia |
OMIM:605909 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:601390 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea, Clonus, Micrognathia, Rigidity, Babinski sign, Optic atrophy, Hypertonia... |
OMIM:614498 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abnormal pyramidal s... |
ORPHA:102 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bilateral renal hy... |
OMIM:619695 |
Moebius Syndrome |
|
Respiratory distress, Abnormal nasopharynx morphology, Micrognathia, Congenital fibrosis of extra... |
OMIM:157900 |
Alg9-Cdg |
|
Thin upper lip vermilion, Torticollis, Villous atrophy, Prominent metopic ridge, Delayed cranial ... |
ORPHA:79328 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Nausea, Increased urinary potassium, Glucocortocoid-insensitive p... |
ORPHA:231580 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Renal hypoplasia, Protruding ear |
ORPHA:2256 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:615546 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Limitation of joint mobility, Flexion contractur... |
ORPHA:171719 |
Even-Plus Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Microtia, Renal hypoplasia |
OMIM:616854 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Depressed nasal bridge, Cervical kyphosis, Micrognathia, Hypoplasia... |
OMIM:108721 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Accel... |
ORPHA:950 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit... |
OMIM:121050 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology |
ORPHA:199302 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Synostosis o... |
ORPHA:90652 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Apnea, Babinski sign, Optic atrophy, Respiratory insufficiency, Vomiting, Dysphagia, Leth... |
OMIM:618226 |
Coffin-Siris Syndrome 6 |
|
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Micrognathia, High... |
OMIM:617808 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:242700 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, C... |
ORPHA:2461 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... |
ORPHA:2260 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia |
OMIM:611722 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Prominent nasal bridge, Nephroblastoma, Underdeveloped nasal alae, Broad nasal tip, M... |
ORPHA:52022 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Hyperextensibility of the finger joints, Joint lax... |
OMIM:309520 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib... |
ORPHA:93267 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Anteverted nares, Apnea, Renal cyst, Multiple renal cysts |
OMIM:614883 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Lumbar hyperlordosis, Diabetes insipidus, Campt... |
ORPHA:391474 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... |
ORPHA:794 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aci... |
ORPHA:254913 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Hearing abnormality, Crypto... |
ORPHA:1580 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Failure to thrive, Hydro... |
OMIM:613735 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Bohring-Opitz Syndrome |
|
Apnea, Micrognathia, Synophrys, Congenital contracture, Vomiting, Prominent palatine ridges, Low-... |
ORPHA:97297 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Posteriorly rotated ears, Unilateral renal agenesis, Renal hypoplasia, Low-set ears, Dysphagia, R... |
OMIM:618494 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Enuresis, Co... |
OMIM:613670 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cr... |
OMIM:613823 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo... |
ORPHA:529962 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the cervical spine, Torticollis, Abnormality of the temporomandibular ... |
ORPHA:73 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abnormal pyramidal s... |
ORPHA:98933 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
Cleft Palate, Deafness, And Oligodontia |
|
Bilateral conductive hearing impairment |
OMIM:216300 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Highly arched eyebrow, Hypospadias,... |
OMIM:614541 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abnormal pyramidal s... |
ORPHA:227510 |
Christianson Syndrome |
|
Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Macrotia, Abn... |
ORPHA:85278 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia |
ORPHA:210571 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Micrognathia, Depressed nasal ridge, Holoprosencephaly, Stomach cancer, Hypothyroidism, Lo... |
ORPHA:1052 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Abnormal renal cor... |
OMIM:617397 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome... |
OMIM:105200 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Ogden Syndrome |
|
Apnea, Maternal diabetes, Abnormal eyelid morphology, Micrognathia, Deep philtrum, Ventricular ta... |
OMIM:300855 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Dystonia 16 |
|
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... |
OMIM:612067 |
Lipoyltransferase 1 Deficiency |
|
Lacticaciduria, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyperglutaminuria |
OMIM:616299 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Incoordination, Underdeveloped nasal alae, Diastema, Micrognathia, Dental maloc... |
ORPHA:436245 |
Achalasia-Microcephaly Syndrome |
|
Mandibular prognathia, Epicanthus, Prominent nose, Micrognathia, Achalasia, Macrotia |
ORPHA:929 |
Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Broad nasal tip, Short neck, Recurrent up... |
ORPHA:284180 |
Frontoocular Syndrome |
|
Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Narrow philtrum, Upsl... |
OMIM:605321 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormal pinna morphology, Camptodactyly of finger... |
ORPHA:251056 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Tripha... |
ORPHA:36 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protru... |
ORPHA:192 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, ... |
OMIM:183090 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Failure to thrive in infancy, Small for gestational age... |
OMIM:614104 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Anosmia, Single naris, Cleft pa... |
ORPHA:2250 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Apnea |
OMIM:615228 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Missing ribs, Rib f... |
OMIM:304050 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Micrognathia, Hypothyroidism, Cryptorchidism, Wide nasal bridge, Renal hypop... |
ORPHA:85321 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal... |
ORPHA:231632 |
Congenital Diaphragmatic Hernia |
|
Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Intestinal malrotation, Congenital diaphr... |
ORPHA:2140 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Accelerated skele... |
ORPHA:439822 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis i... |
OMIM:259440 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Nephr... |
OMIM:269920 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Hypoplasia of the musculature, Abnormality of the dentition, Osteoporos... |
ORPHA:231214 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Ectopic kidney, Cleft upper lip, Micrognathia, Cleft palate, Small thenar eminen... |
OMIM:239800 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia |
OMIM:173590 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorc... |
OMIM:613544 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Short mandibu... |
OMIM:141300 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Hydrocephalus, Respiratory insufficie... |
ORPHA:1895 |
Developmental And Epileptic Encephalopathy 64 |
|
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, ... |
OMIM:618004 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Hemiatrophy |
ORPHA:306669 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Micrognathia, Knee flexion contracture, Hyperhidrosis, Smooth tongue, Short tibia, Pursed ... |
OMIM:601559 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora... |
ORPHA:1436 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Optic atrophy, H... |
ORPHA:289560 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Abnormal pinna morphology, M... |
OMIM:618291 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia, Hypomimic face |
ORPHA:71517 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contr... |
OMIM:300232 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, Truncal a... |
OMIM:608636 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Renal hypoplasia, Incomplete partition o... |
OMIM:617660 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Sh... |
ORPHA:1752 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, ... |
OMIM:620167 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia, Hypomimic face |
OMIM:128235 |
Abruzzo-Erickson Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia |
ORPHA:921 |
Keipert Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Exaggerated cupid's b... |
ORPHA:2662 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Chronic otitis media |
OMIM:618063 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:782 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Wormian bones, Accessory oral frenulum, Micrognathia, H... |
OMIM:252100 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Chops Syndrome |
|
Anteverted nares, Tracheomalacia, High, narrow palate, Cryptorchidism, Splenomegaly, Vesicoureter... |
OMIM:616368 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Epicanthus, Hypospadias, Microcytic anemia, Micrognathia, Cryp... |
ORPHA:98791 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Prominent nasal bridge, Decreased res... |
OMIM:216550 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Smooth philtrum, Posteriorly rotated ears, Anteverted nares, Micrognathia, Synophrys, Wide nasal ... |
OMIM:602562 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, ... |
OMIM:300978 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Chorea, Spastic te... |
OMIM:620071 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... |
OMIM:178110 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Hypertonia, Apnea, Myoclonus |
OMIM:610992 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ... |
OMIM:300676 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Splenomegaly... |
OMIM:235200 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... |
OMIM:232220 |
Joubert Syndrome 2 |
|
Encephalocele, Central apnea, Renal insufficiency, Depressed nasal bridge, Ataxia, Episodic tachy... |
OMIM:608091 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebrow, Und... |
ORPHA:2083 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears |
OMIM:618672 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Urinary incontinence, Bowel incontin... |
OMIM:616482 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... |
OMIM:609029 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment |
ORPHA:1997 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Tongue atrophy, Anteverted nares, Congenital hip dislocation, Limited elbo... |
OMIM:615065 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Oligodontia, Platy... |
OMIM:601216 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short neck, Hyposegmentation of neutrophil nuclei, Delayed skeletal maturation, Thin vermilion bo... |
OMIM:614800 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, Tremor, High, narrow palate, Synophrys, High palate, Short philtru... |
OMIM:619312 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios... |
ORPHA:380 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Clinodactyly... |
OMIM:601163 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness |
OMIM:616155 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Xq28 (MECP2) duplication |
|
Macrotia, Functional abnormality of the bladder, Gait ataxia, Dysphagia, Failure to thrive, Abnor... |
DECIPHER:45 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia, Decreased body weight |
OMIM:614063 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor... |
OMIM:239500 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Epicanthus, Death in infancy, Sparse eyelashes, Depressed nasal bridge, Proteinuria,... |
OMIM:616901 |
Tetraploidy |
|
Convex nasal ridge, Renal hypoplasia/aplasia, Micrognathia, Cleft palate, Aplasia/Hypoplasia of t... |
ORPHA:3305 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Depressed nasal ridge, Patellar h... |
OMIM:114290 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Overlapping fingers, Stiff neck, Narrow palate, Femoral bowing, ... |
OMIM:617022 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pulsatile tinnitus, Paroxysmal vertigo, Cranial nerve compression... |
ORPHA:94080 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diarrhea, Wide nasal bridge, Spas... |
OMIM:300215 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... |
ORPHA:95433 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Conjunctiviti... |
ORPHA:99827 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Depressed nasal bridge, Hypospadias, Micrognathia, Synophrys, Overfolded helix, High ... |
ORPHA:1913 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Dental crowding, Spastic paraplegia, Dysmetria, Gait ataxia, Gastroesophageal refl... |
OMIM:615031 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Cryptorchidism, Cupped ear, Fl... |
OMIM:617159 |
Huntington Disease |
|
Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Chorea, Babinski sign, Clumsi... |
ORPHA:399 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Wide nose, Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Cari... |
OMIM:272430 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis, Pancre... |
ORPHA:83617 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... |
ORPHA:1215 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614009 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Vomitin... |
OMIM:252010 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Micrognathia, Vesicoureteral reflux, Hypospadias, Exaggerated cupid's bow, Cryptorchidism, Short ... |
OMIM:618659 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system ph... |
ORPHA:329284 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal pinna morphology, Dental crowding, Prominent nose, Micrognathia... |
ORPHA:228410 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Rib ... |
ORPHA:1606 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Vertebral segmentation defect, Vertebral fusion, Scapular winging, Anteve... |
OMIM:272460 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Urinary incontinence, Decreased nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:603516 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment, Abnormal salivary gland morphology |
ORPHA:3225 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microphal... |
ORPHA:94065 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia |
ORPHA:141152 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia, Hypomimic face |
OMIM:618824 |
Al Amyloidosis |
|
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnorma... |
ORPHA:85443 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali... |
ORPHA:246 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Micrognathia, Flexion contracture, High palate, Gastro... |
OMIM:618186 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Vesicoureteral reflux, Genu varum, Death in infancy, Antevert... |
OMIM:274000 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency, Lower limb spasticity, Bradykinesia |
OMIM:618878 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bo... |
ORPHA:904 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Crouzon Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Sagittal craniosynosto... |
OMIM:123500 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Short... |
ORPHA:2751 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Kbg Syndrome |
|
Short palm, Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Rib fusion, Cu... |
OMIM:148050 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia |
ORPHA:93950 |
Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Hydroureter, Depressed nasal bridge, Anteverted nares, Abn... |
ORPHA:1458 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Trisomy 18P |
|
Telecanthus, Abnormal pinna morphology, Facial palsy, Highly arched eyebrow, Underdeveloped nasal... |
ORPHA:1715 |
Pontocerebellar Hypoplasia, Type 11 |
|
Decreased body weight, Ataxia, Limb ataxia, Self-injurious behavior, Attention deficit hyperactiv... |
OMIM:617695 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial ossification, A... |
OMIM:618265 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Epicanthus, Hearing impairment, Micrognathia, Urethral stenosis, Depressed nasal ridge... |
ORPHA:1727 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Synophrys, Cupped ear... |
OMIM:619873 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Oligodontia, High palate, Narrow chest, Broad ribs, Premature... |
OMIM:224300 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Ptosis, Torticollis, Exaggerated startle response, Apnea, Diarrhea, Babinski sign, Limb tremor, C... |
OMIM:608643 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Prominent... |
ORPHA:363528 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Hype... |
ORPHA:238455 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor... |
OMIM:305400 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation |
OMIM:614100 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Short neck, Vesicoureteral reflux, Horsesh... |
OMIM:609053 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... |
OMIM:612098 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormality of the philtrum, Arachnodact... |
ORPHA:280 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Tooth malposition, Distal ulnar ... |
OMIM:277150 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Small hand, Bradykinesia, Ankle clonus, Short foot, Hypertonia, ... |
OMIM:617435 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Obesity, Renal hypoplasia |
ORPHA:464288 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Micrognathia, Flexion contracture, Hypertonia, High palate, Gastroesophageal reflux, Pursed lips,... |
ORPHA:562528 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Nablus Mask-Like Facial Syndrome |
|
Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Anteverted nares, ... |
OMIM:608156 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hyd... |
OMIM:601499 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Abn... |
OMIM:179613 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Elevated circu... |
OMIM:101800 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Prominent nasal bridge, Micrognathia, Cryptorchidism, Synophrys, Horseshoe kidney, Orofacial clef... |
ORPHA:502434 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia |
ORPHA:306692 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the splee... |
ORPHA:1834 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon... |
ORPHA:79345 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Deep ... |
ORPHA:77300 |
Bleeding Disorder In Hemophilia A Carriers |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... |
ORPHA:177926 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Dental crowding, Thorac... |
ORPHA:313892 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation,... |
ORPHA:2958 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Broad nasal t... |
OMIM:620157 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Hyperpl... |
OMIM:617616 |
Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Abnormal nasal morphology, Microtia, first degree, Anteriorly placed anus... |
OMIM:200110 |
Attenuated Chédiak-Higashi Syndrome |
|
Incoordination, Epistaxis, Hypertonia, Abnormality of extrapyramidal motor function, Gingival ble... |
ORPHA:352723 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Partially dupli... |
ORPHA:274 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Xerostomi... |
ORPHA:1896 |
Hypophosphatasia, Infantile |
|
Death in infancy, Elevated urine pyrophosphate, Apnea, Micromelia, Abnormality of the dentition, ... |
OMIM:241500 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Joubert Syndrome 7 |
|
Encephalocele, Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disea... |
OMIM:611560 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Large earlobe, Cupped ear, Unilateral renal hypoplasia |
OMIM:619955 |
Cebalid Syndrome |
|
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Posteriorly rotated ea... |
OMIM:618774 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor... |
ORPHA:2075 |
Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... |
OMIM:617666 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Congenital diaphra... |
ORPHA:1915 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... |
OMIM:618317 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tracheomalacia, Micrognath... |
ORPHA:513456 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me... |
OMIM:276700 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o... |
ORPHA:2475 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Micrognathia, Flexion contracture, Patellar hypoplasia, Protruding ear, Hypogonadism, Macrotia, C... |
OMIM:251240 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Progressive flexion contractures, Ataxia, Parkinsonism, Postural tremor, Rigidity, B... |
ORPHA:98808 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... |
ORPHA:1647 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Abnormal pinna morphology, Renal agenesis, Unilateral renal agenesis, Ectopi... |
OMIM:617641 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Cox... |
ORPHA:168549 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis |
OMIM:615643 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... |
ORPHA:615 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow... |
ORPHA:93946 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... |
OMIM:227500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Tremor, Large fleshy ears, C... |
OMIM:614080 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi... |
OMIM:615528 |
Epistaxis, Hereditary |
|
Epistaxis |
OMIM:132500 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption |
OMIM:152800 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Mandibular prognathia, Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia... |
ORPHA:3082 |
Zechi-Ceide Syndrome |
|
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... |
ORPHA:217017 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment |
ORPHA:1861 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism, Apnea, Episodic tachypnea,... |
ORPHA:79264 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Epicanthus, Telecanthus, Anteverted nares, Hypospadias, Aganglionic me... |
ORPHA:3339 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Biotinidase Deficiency |
|
Ataxia, Apnea, Splenomegaly, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Diarrhea... |
OMIM:253260 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot... |
OMIM:258850 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Recurrent upper respiratory tract inf... |
ORPHA:225147 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... |
ORPHA:436 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosen... |
OMIM:202650 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Synophrys, High palate, Brow ptosis, Exaggerated cupid's bow, Highly arched eyebrow... |
OMIM:605130 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hypospadias, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compu... |
ORPHA:544254 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... |
OMIM:612840 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... |
ORPHA:17 |
Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Joint laxity, Anteverted... |
OMIM:620370 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Micrognathia... |
OMIM:241800 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea, Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Choreoathetosis, ... |
OMIM:612233 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,... |
OMIM:612921 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Epicanthus, Prominent nasal bridge, Malabso... |
ORPHA:1225 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr... |
ORPHA:251282 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Aplasia/Hyp... |
ORPHA:1702 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Joubert Syndrome 23 |
|
Sensorineural hearing impairment, Tachypnea, Apnea |
OMIM:616490 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, High, narrow palate, Conduct... |
ORPHA:2980 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm... |
OMIM:618504 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Hypertrophic cardiomyopathy, Optic atrophy, Apnea |
OMIM:618236 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Antegonial no... |
OMIM:170390 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Vesicourete... |
OMIM:614261 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic girdle bone ... |
ORPHA:2928 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Esophageal varix, Ecchymosis, Pet... |
OMIM:619463 |
Zaki Syndrome |
|
Wide nose, Sacral dimple, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Cupped... |
OMIM:619648 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Diabetes mellitus, Abnormal pinna morphology, Optic nerve hypoplasia, Apnea, Fl... |
OMIM:609069 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... |
OMIM:608257 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca... |
OMIM:608800 |
Charlie M Syndrome |
|
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh... |
ORPHA:1406 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Synophrys, Short philtrum, Gastroesophageal reflux, Long philtrum, Wide nasal bridg... |
OMIM:620250 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the upper urinary tract, Micromelia, Abnormality of the urethra, Micrognathia, Cle... |
ORPHA:2145 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Bilateral ptosis, Babinski sign, Abnormal pyrami... |
ORPHA:97349 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti... |
OMIM:300602 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati... |
ORPHA:96170 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypoplasia of the max... |
OMIM:106260 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of... |
ORPHA:79259 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Diastasis recti, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Temple Syndrome |
|
Decreased testicular size, Wide nose, Posteriorly rotated ears, Depressed nasal bridge, Anteverte... |
OMIM:616222 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... |
OMIM:301000 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Schilbach-Rott Syndrome |
|
Epicanthus, Posteriorly rotated ears, Hypospadias, Prominent nose, Long nose, Micrognathia, Submu... |
OMIM:164220 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment |
ORPHA:3238 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... |
ORPHA:465 |
White-Kernohan Syndrome |
|
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Gastroesopha... |
OMIM:619426 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Bowing of the legs, Abnormal hand bone ossif... |
OMIM:200600 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... |
OMIM:300266 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cupped ear, Limb ataxia, Pe... |
OMIM:617101 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short... |
ORPHA:261304 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Low... |
OMIM:617127 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Bell-shaped... |
ORPHA:2021 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency, Knee flexion contracture, Dysphagia, Distal arthrogryposis, Cam... |
OMIM:618198 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... |
OMIM:618886 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Bul... |
OMIM:619188 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial ne... |
ORPHA:797 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Abnormality of dental color, Dental crowding, Micrognathia, Hypo... |
ORPHA:37553 |
Zygomycosis |
|
Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Colitis, Vomiting, Coug... |
ORPHA:73263 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:600116 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Sinusitis, Pericarditis, Epista... |
ORPHA:727 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosp... |
ORPHA:168569 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Tenosynovial Giant Cell Tumor |
|
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... |
ORPHA:66627 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Epistaxis, Impaired neutrop... |
OMIM:260570 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia |
ORPHA:228169 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Biotinidase Deficiency |
|
Respiratory distress, Ataxia, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineura... |
ORPHA:79241 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Depressed nasal bridge, Highly arched eyebrow, Unilateral renal agen... |
OMIM:618142 |
X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Hyp... |
ORPHA:47 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing ribs, Abno... |
ORPHA:2759 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Abnormality of the thyroid gland, Xerostomia, Enlarged lacrima... |
ORPHA:449432 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of... |
ORPHA:252164 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures |
ORPHA:1129 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Microdontia, Bifid uvula, Depressed nasal bridge, Hypos... |
OMIM:129400 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... |
ORPHA:2167 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, Oliguria, Brad... |
ORPHA:90051 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:248111 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Fused th... |
ORPHA:97360 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Elbow flexion contracture, Flared metaphysi... |
OMIM:184252 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... |
OMIM:257850 |
Neuroocular Syndrome |
|
Unilateral deafness, Cupped ear, Low-set ears, Anterior creases of earlobe |
OMIM:619539 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia |
OMIM:609161 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypospadias, Microgna... |
OMIM:603736 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, E... |
OMIM:610536 |
Craniorachischisis |
|
Anal atresia, Bifid sternum, Congenital diaphragmatic hernia |
ORPHA:63260 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Horizon... |
ORPHA:239 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Dental crowding, Dysmetria, Gait ataxia, Hypomimic face |
ORPHA:320385 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge,... |
ORPHA:1716 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hea... |
OMIM:182212 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... |
OMIM:277450 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia |
OMIM:617820 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Trismus, De... |
OMIM:227330 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Protruding ear, Choanal stenosis, High palate, M... |
OMIM:259775 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio... |
OMIM:612530 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, Narrow chest... |
ORPHA:93298 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
49,Xxxyy Syndrome |
|
Low-set, posteriorly rotated ears, Decreased serum testosterone concentration, Epicanthus, Mandib... |
ORPHA:261534 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech, Thick vermilion border, Nephrolithiasis |
OMIM:619827 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Prominent nose, Micrognathia, Cryptorchidism, Short thumb, Abs... |
OMIM:617516 |
Zimmermann-Laband Syndrome |
|
Wide nose, Telecanthus, Micrognathia, Splenomegaly, Bulbous nose, Sensorineural hearing impairmen... |
ORPHA:3473 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triangular sh... |
ORPHA:73230 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Restrictive ventilatory de... |
OMIM:203300 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysphagia, Lim... |
OMIM:261640 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormal renal morphology, Abnormality of the outer ear, ... |
OMIM:182290 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Low-set ears, Vesicoureteral reflux, Failure to thrive |
ORPHA:2470 |
Wolfram Syndrome |
|
Male hypogonadism, Nephropathy, Ataxia, Respiratory insufficiency, Cardiomyopathy, Constipation, ... |
ORPHA:3463 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of paro... |
ORPHA:79078 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Microcytic anemia, Intes... |
ORPHA:774 |
Propionic Acidemia |
|
Pancytopenia, Apnea, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemo... |
OMIM:606054 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla... |
ORPHA:228396 |
Cach Syndrome |
|
Optic atrophy, Renal hypoplasia, Limb ataxia, Dysmetria, Dysphagia, Truncal ataxia |
ORPHA:135 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Splenomegaly, Wheezing, Diarrhea, Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,... |
ORPHA:3378 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Short... |
ORPHA:2484 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Choanal atresia, Congenital di... |
OMIM:613309 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Stiff... |
ORPHA:268882 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Congenital diaphragmatic hernia, Intestinal mal... |
ORPHA:2143 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, High palate, Short philtrum, Finger ... |
OMIM:212720 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adren... |
OMIM:220210 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Protruding tongue, Ma... |
OMIM:242860 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Meckel Syndrome 12 |
|
Anteverted nares, Ureteral hypoplasia, Micrognathia, Antecubital pterygium, Wide nasal bridge, Re... |
OMIM:616258 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Kyphoscolio... |
ORPHA:412035 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Telecanthus, Hypospadias, Gastritis, Megaloblastic anemia, Abnormal erythrocyte morphology, Folat... |
ORPHA:2575 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Prominent nose, Micrognathia, ... |
OMIM:154230 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Crowded maxillary incisors, Abnormal fe... |
ORPHA:2063 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Pectus excavatum, Postaxial polydac... |
OMIM:258860 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... |
OMIM:184250 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... |
ORPHA:2316 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Vesicoureteral reflux, Vertebral fusion, Promi... |
OMIM:610443 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:604804 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con... |
ORPHA:373 |
Trisomy 12P |
|
Epicanthus, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corne... |
ORPHA:1699 |
Eales Disease |
|
Optic disc pallor, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, M... |
ORPHA:40923 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Renal hypoplasia |
ORPHA:75389 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Depressed nasal bridge, Abnormality of the kidney, Micrognathia, Sparse eyebrow, Hydr... |
ORPHA:459061 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Delayed closure of the anterior fontane... |
OMIM:607872 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p... |
OMIM:619142 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Neonatal respiratory distress, Tachycardia, Apnea, Flexion contract... |
OMIM:614653 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Prominent nasal br... |
OMIM:619951 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Renal hypoplasia/aplasia, Micrognathia, Wide nasal bridge, Abnormal antihe... |
ORPHA:1438 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hearing impairment, Micromelia, Aplasia/Hypoplasia of t... |
ORPHA:2496 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Exaggerated cupid's bow, Diastasis recti, Overlapping toe, Pectus excavat... |
ORPHA:254528 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Abnormal pinna morphology, Hypospadias, Per... |
OMIM:610253 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Posteriorly rotated ears, Unilateral cryptorchidism, Underdeveloped nasa... |
ORPHA:447980 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Aganglionic megacolon, Posteriorly rotated ears, Apnea, Central hypoventilation,... |
OMIM:209880 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Renal cyst, Cleft palate, ... |
OMIM:614815 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama... |
OMIM:271650 |
Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality o... |
ORPHA:2305 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo... |
ORPHA:251004 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Epicanthus, Depressed nasal bridge, Posteriorly rotated ... |
OMIM:610733 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Hypogonadism, Bradycardia |
OMIM:609286 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... |
OMIM:600649 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Heari... |
ORPHA:2077 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cl... |
OMIM:620269 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Missing ribs, Cryptorc... |
OMIM:206900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs, Anal atresia |
OMIM:271520 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An... |
ORPHA:404440 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Anteverted nares, Micrognathia, External ear malformation, Ectopic kidne... |
ORPHA:233 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Metaphyseal widening, Cleft palate,... |
ORPHA:440354 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Thick lower lip vermilion, Genu valgum, Macroglossia, Broa... |
ORPHA:583 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Anteverted nares, Facial palsy, Aplasia/Hypoplasia of the tongue, Microg... |
ORPHA:1358 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Dysphagia, Aspirati... |
OMIM:618253 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Telecanthus, Abnormal pinna morphology, De... |
OMIM:612337 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen... |
OMIM:608728 |
Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Protruding... |
ORPHA:324410 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Hypertension, Mi... |
OMIM:230800 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Genu valgum, Hip... |
OMIM:619698 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Acrofacial Dysostosis, Palagonia Type |
|
Posteriorly rotated ears, Sparse eyelashes, Abnormal eyelid morphology, Micrognathia, High, narro... |
ORPHA:1787 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, Syndactyly, ... |
ORPHA:2839 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Short philtrum, Anteverted nares, Hypospadias, Sparse eyebrow, Cryptorchidism, Wide... |
OMIM:613026 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordi... |
ORPHA:268943 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin... |
OMIM:241310 |
Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Apnea, Clonus, Gastroesophageal reflux |
ORPHA:1949 |
Monosomy 18P |
|
Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downtur... |
ORPHA:1598 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia, Heari... |
OMIM:614922 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Protruding tongue, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oro... |
ORPHA:53351 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... |
OMIM:616589 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Glue ear, Absence of renal corticomedullary differentiation, Renal hypoplasia, Low-set ears, Recu... |
OMIM:619758 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture, Narrow mouth |
OMIM:614833 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... |
OMIM:616331 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Ataxia, Apnea, Cardiac conduction ab... |
ORPHA:255210 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Oral-pharyngeal dysphagia, Babinski sign, Viral infection-induced rhabdomyolysis, Choreoat... |
ORPHA:2524 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Renal hypoplasia/aplasia, Long nose, Cryptorc... |
ORPHA:52 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Tremor, Limb myoclonus, Small h... |
ORPHA:3095 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Camptodactyly... |
ORPHA:261344 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna... |
OMIM:269250 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia... |
ORPHA:570 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... |
OMIM:101600 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Depressed nasal bridge, Posteriorly rotated ears, Congenital diaphragm... |
OMIM:222448 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Cardiomyopathy, Hypogonadism, Hepatomegaly |
OMIM:608540 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, C... |
OMIM:167730 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617830 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, High, narrow palat... |
ORPHA:436003 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap... |
OMIM:619503 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Camptodactyly of ... |
ORPHA:1106 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Kyphosis, ... |
OMIM:615108 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Optic disc pallor, Death in infancy, Tented up... |
OMIM:618580 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia |
ORPHA:254534 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Micrognathia, Synophrys, Downturned corners of mouth, High palate, Gastroesophagea... |
OMIM:610759 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Chromosome 18P Deletion Syndrome |
|
Epicanthus, Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Depressed n... |
OMIM:146390 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Highly arched eyebrow, Short columella, Low-set ears, ... |
OMIM:300867 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Cardiac arrest |
ORPHA:77260 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Posteriorly rotated ears, Depressed nasal bridge,... |
ORPHA:1427 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Abnormal enchondral ossification, Short thorax, Shor... |
ORPHA:93299 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Epicanthus, Posteriorly rotated ears, Macrocytic ... |
OMIM:606164 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa v... |
OMIM:608940 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Flexion contracture, Submucous cleft hard palate,... |
OMIM:617140 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Anhidrosis, Ataxia, Urinary incontinence, Parki... |
OMIM:146500 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Epicanthus, Tented upper lip vermilion, Exaggerated startle response, Apnea, Tremor, Truncal titu... |
OMIM:618056 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea, Splenomegaly, Retrognathia, Low-set ears, Neutropenia, Macrotia, Smooth philtrum |
OMIM:617050 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing impairment... |
OMIM:612938 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Gabriele-De Vries Syndrome |
|
Micrognathia, Tremor, High palate, Simple ear, Sparse eyebrow, Cryptorchidism, Low-set ears, Uret... |
OMIM:617557 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, Micrognathia, High, narrow palate... |
ORPHA:435638 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Paralysis, Respiratory insufficiency due to ... |
ORPHA:18 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Midface retrusion, Convex nasal ridge, Abnormal... |
ORPHA:1540 |
Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure... |
ORPHA:30 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Anal stenosis, Hypospadias, Tracheomalacia, Micrognathia, Hypopl... |
ORPHA:314679 |
Squalene Synthase Deficiency |
|
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Hypospadias, Optic nerve hypoplasia... |
OMIM:618156 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithiasis, Hypertension, F... |
OMIM:232200 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Telecanthus, Neonatal respiratory distress, Abnormal pinna morphology, Depr... |
OMIM:217980 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... |
OMIM:214500 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Finger syndactyly, Exaggerated cupid's ... |
ORPHA:2215 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Abnormality of the dentition, Gait... |
OMIM:312750 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Hyp... |
OMIM:617241 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Hypo... |
OMIM:164745 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment |
OMIM:601076 |
Joubert Syndrome 9 |
|
Encephalocele, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Oculomotor apraxia |
OMIM:612285 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu... |
ORPHA:2038 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Abnormal midface morphology, Short neck, Hypoplasia of t... |
ORPHA:1299 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia, Malabsorption |
ORPHA:99811 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, ... |
ORPHA:2437 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... |
OMIM:613443 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Toe syndactyly, Short ... |
OMIM:134780 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Periana... |
OMIM:612541 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Congestive heart fail... |
ORPHA:108 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
8Q21.11 Microdeletion Syndrome |
|
Ptosis, Wide nose, Epicanthus, Hypoplasia of penis, Camptodactyly of finger, Exaggerated cupid's ... |
ORPHA:284160 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Decreased fibular... |
OMIM:616897 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Orofacial cleft, Downturned corners of mouth, Short philtrum, Vertebral fu... |
OMIM:194190 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma... |
ORPHA:276280 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormality of the ea... |
OMIM:601680 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Neurofibroma |
|
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib... |
ORPHA:252183 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Ath... |
OMIM:311900 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Apnea, Micrognathia, Glutaric aciduria, D-2-hydroxyglutaric aciduria, Cardi... |
OMIM:600721 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Micromelia, High, narrow palate, Synophrys, Micr... |
OMIM:122470 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Ataxia, Micrognathia, Almond-shaped palpebral... |
OMIM:617930 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap... |
ORPHA:2970 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Anteverted nares, Prominent ... |
ORPHA:2604 |
Ohdo Syndrome, X-Linked |
|
Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Micropenis, Depresse... |
OMIM:300895 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Pa... |
ORPHA:217085 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micromelia, Micrognathia, Cry... |
ORPHA:93329 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, ... |
ORPHA:2131 |
Zellweger Syndrome |
|
Death in infancy, Epicanthus, Multicystic kidney dysplasia, Depressed nasal bridge, Hypospadias, ... |
ORPHA:912 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia, Episodic vomiting |
OMIM:301095 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig... |
OMIM:224690 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Recurrent otitis media, Low-set ears |
OMIM:608545 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Micrognathia, Eyelid coloboma, Conductive hearing impairment, Micropenis, Hypoplas... |
OMIM:263750 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Chronic consti... |
ORPHA:411602 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr... |
OMIM:600920 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... |
ORPHA:167 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ataxia, Unilateral renal agenesis, Ectopic kidney, Sensorineural hearing impairment, Renal hypopl... |
OMIM:616541 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Kyphosis, ... |
OMIM:615109 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Short philtrum, Hypoplasia of the thymus, Gastroesophag... |
ORPHA:567 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:582 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morph... |
ORPHA:79430 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... |
OMIM:109120 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Coxa valga, Pierre-Robin sequence, Rib fusion, Posterior ri... |
ORPHA:263508 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Urinary incontinence, Parkinsonism, Bowel incontinence, Tremor, Rigidity, Head tit... |
OMIM:618877 |
Baker-Gordon Syndrome |
|
Ataxia, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms |
OMIM:618218 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... |
OMIM:259600 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, D... |
OMIM:600795 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, High, narrow palate, Deep philtrum, High palate, Micropenis, Depressed nasal bridge... |
OMIM:158170 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Adrenal hypoplasia, Morgagni diaphragmatic hernia, Micrognathia, Rectal prolapse, Hyp... |
OMIM:613177 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Pa... |
ORPHA:217093 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, Laryngotracheomalacia, Renal cyst, Short philtrum,... |
OMIM:618454 |
Hypermanganesemia With Dystonia 2 |
|
Limb joint contracture, Parkinsonism, Tremor, Achilles tendon contracture, Babinski sign, Scissor... |
OMIM:617013 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Delayed skeletal maturat... |
OMIM:608154 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microti... |
OMIM:616462 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Pelvic girdle muscle atrophy, Cleft ala nasi... |
ORPHA:3044 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... |
OMIM:615398 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Eruption failure, High ... |
OMIM:166250 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... |
OMIM:615485 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Marden-Walker Syndrome |
|
Epicanthus, Decreased muscle mass, Anteverted nares, Hypospadias, Micrognathia, High, narrow pala... |
OMIM:248700 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Restrictive ventilatory defect, Men... |
OMIM:614073 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Downturn... |
ORPHA:247262 |
Myhre Syndrome |
|
Short palm, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Submucous cleft hard palat... |
ORPHA:2588 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia |
OMIM:617384 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... |
OMIM:223800 |
Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Abnormality of neutrophils, Protruding tongu... |
ORPHA:2268 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Depressed nasal bri... |
ORPHA:994 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ptosis, Epicanthus, Renal insufficiency, Depressed nasal bridge, Hypospadias, Ataxia, Cryptorchid... |
OMIM:300661 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Accelerated skeletal matu... |
ORPHA:561 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Micrognathia, Flexion contracture, Hand tremor, Hypertonia, Death in infancy, ... |
OMIM:618947 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Celiac disease, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Babinski sign, Ankle clonus, Apneic episodes in infancy, Constipation, Hypothy... |
OMIM:301058 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Protruding ear, Downt... |
OMIM:156200 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec... |
OMIM:616037 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Micrognathia, Gastroesophageal reflux, Death in infancy, Neonatal asphyx... |
OMIM:608779 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Trisomy 10P |
|
Decreased muscle mass, Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Gastro... |
ORPHA:171929 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip, Supernumer... |
OMIM:619122 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pancytopenia, Abnormal pinna morphology, Hypospadias, Dental crowding, Prominen... |
OMIM:210600 |
Larsen Syndrome |
|
Cervical kyphosis, Knee dislocation, Conductive hearing impairment, Spina bifida occulta, Hypopla... |
OMIM:150250 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Microscopic hematuria, Myocarditis, Fulminant hepatitis, Leukocytosis... |
ORPHA:319213 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Micrognathia, Cryptorchidism, Bul... |
ORPHA:1237 |
Rubinstein-Taybi Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Highly arched eyebrow, Abnormality of the dentition, Carious tee... |
ORPHA:783 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Broad long bones, Dental crowding, Wormian bones, Coxa valga, Carious te... |
OMIM:269300 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Hypocalcemia, Hepatomegaly |
OMIM:618440 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... |
OMIM:117650 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Wide nose, Hypoplasia of penis, Convex nasal ridge, Micrognathia, Hydr... |
OMIM:617667 |
Foxg1 Syndrome |
|
Dystonia, Bruxism, Choreoathetosis, Decreased body weight, Abnormal repetitive mannerisms, Paroxy... |
ORPHA:561854 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide nasal bridge, Pro... |
ORPHA:3304 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, F... |
OMIM:610883 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Progressiv... |
ORPHA:522077 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Hypoventilation, Optic nerve hypoplasia, Highly arched eyebrow, Broad nasa... |
OMIM:620155 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... |
ORPHA:2878 |
Benign Familial Infantile Epilepsy |
|
Limb myoclonus, Hypertonia, Apnea |
ORPHA:306 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Tetanus |
|
Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens... |
ORPHA:3299 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Renal hypoplasia, Microtia, Pelvic kidney, Microphallus, Conductive hearin... |
OMIM:603467 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Apnea, Hearing impairment, Protruding tongue, Gait ataxia, Choreoathetosis, Opisthotonus,... |
OMIM:619580 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Conical incisor, Conjunctivitis, Nephrosclerosis, Microdonti... |
OMIM:149730 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Paroxysmal ver... |
ORPHA:276621 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Stridor, Dysphagia, Arthrogryposis... |
OMIM:617143 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o... |
OMIM:614753 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral ref... |
OMIM:616894 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... |
OMIM:617092 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Protruding ear, Reduced bone mineral density, Iron deficiency anemia, High palate, Ab... |
ORPHA:93315 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... |
OMIM:617895 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Asplenia, High palate, Hypodontia, Low-set ears, Narrow mouth, Polysplenia, Microgl... |
OMIM:612776 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive... |
OMIM:618917 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia,... |
OMIM:613327 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Obesity... |
OMIM:600430 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Blepharospasm, Choreoathetosis, Br... |
OMIM:606159 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti... |
ORPHA:79312 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Delayed skeletal matura... |
OMIM:613804 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Intestinal malrotation, Congenital diaphragmatic hernia, Hyposp... |
OMIM:617602 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... |
OMIM:153670 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Splenomegaly, Ataxia, Apnea |
OMIM:617767 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:238750 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy, Generalized amyotrophy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ataxia, Decreased response to growth hormone... |
OMIM:610978 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,... |
OMIM:614076 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Prominent nasal bridge, Anisocytosis, Micrognathia, Flexion contracture, Lacticaciduria, Renal hy... |
OMIM:604273 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Ataxia, Hydrocephalus, Hypertonia, Abnormal urine alpha-ketoglutarate co... |
ORPHA:31 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Hypospadias, Prominent nasal bridge, Micrognathia, Carious te... |
ORPHA:96097 |
Nasal Bones, Absence Of |
|
Short columella, Narrow naris |
OMIM:161480 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Gait ataxia, Prominent antihelix, Dystonia, Abnormal repetitive mannerisms |
OMIM:617807 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Pulmonary venous hypertension, Enl... |
ORPHA:79128 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... |
OMIM:235255 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Myopathy, Ca... |
ORPHA:261476 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Central hypoventilation, Apnea, Optic atrophy, Dysmetria, Respiratory failure, Dysphagia |
OMIM:618233 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, C... |
OMIM:139210 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Ecchymosis, Papilledema, Paralysis, Hepatosplenomegaly, De... |
ORPHA:2072 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Micrognathia, Synophrys, Anotia, High palate, Hypertonia, Depres... |
ORPHA:261112 |
Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Accessory spleen, Depres... |
ORPHA:3379 |
Phaver Syndrome |
|
Posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing im... |
ORPHA:2876 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, C... |
OMIM:614230 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Apnea, Premature loss of primary teeth, Tremor, Splenomegaly, Hydrocep... |
ORPHA:667 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Tremor, Synophrys, Hypertrophy of the urinary bladder, Large fleshy e... |
ORPHA:280633 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Short neck, Hypoplasia of the maxilla, Bulbous nos... |
OMIM:609460 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, Wide nasal bridge,... |
OMIM:618356 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Bifid uvula, Hy... |
OMIM:218600 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Epicanthus, Intermittent hyperventilation, Prominent nasal bridge, Optic nerve... |
OMIM:300749 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Micrognathia, Babinski sign, Optic atrophy, Gait ataxia, Elevate... |
OMIM:620089 |
Martin-Probst Syndrome |
|
Epicanthus, Telecanthus, Renal insufficiency, Proteinuria, Pancytopenia, Micrognathia, Cryptorchi... |
OMIM:300519 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Synophrys, Hypertonia, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:96092 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Delayed skeleta... |
OMIM:613805 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, High palate, Congenital diaphragmatic hernia |
OMIM:619699 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Absent inner and outer dynein a... |
OMIM:606763 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir... |
ORPHA:79301 |
Down Syndrome |
|
Short neck, Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Mi... |
ORPHA:870 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal mal... |
OMIM:243605 |
Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricul... |
ORPHA:335 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Oligodontia, C... |
ORPHA:2095 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, High palate, Sprengel ano... |
ORPHA:2180 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Small earlobe, Tented upper lip vermilion, Prominent nasal bridge, Exagg... |
ORPHA:364577 |
Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of the large joint... |
ORPHA:2457 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Tremor, Rigidity, Diarrhea, Bradykinesia, Constipation, Abnormal autonomic nervous... |
ORPHA:2828 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Seckel Syndrome 2 |
|
Hypospadias, Prominent nose, Micrognathia, Ectopic kidney, Microdontia, Microglossia |
OMIM:606744 |
Perry Syndrome |
|
Hypoventilation, Parkinsonism, Central hypoventilation, Tremor, Rigidity, Respiratory insufficien... |
OMIM:168605 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Optic atrophy, Facial palsy |
OMIM:218400 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Intestinal obstructio... |
ORPHA:2323 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An... |
ORPHA:2554 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Renal cyst, Micropenis, Multicystic kidney dysplasia, Depressed nasal bridge, Antev... |
OMIM:257300 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... |
OMIM:139090 |
Xylt1-Cdg |
|
Joint laxity, Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Th... |
ORPHA:370930 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr... |
OMIM:610017 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Microvesicular hepat... |
OMIM:212140 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,... |
OMIM:613803 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Kyphosis, ... |
OMIM:158350 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia |
OMIM:600151 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, High palate, Short philtrum, ... |
OMIM:617746 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Nasal polyposis, Wheezing, Abnormal axonemal organization of respi... |
OMIM:613808 |
Menke-Hennekam Syndrome 2 |
|
Narrow nasal bridge, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Duodenal ulcer... |
OMIM:618333 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Aggressive behavior,... |
ORPHA:3306 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors |
ORPHA:397973 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, Overfolded helix, Low-set ears |
OMIM:617412 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Clonus, Tremor, Sensorineural hearing impairment, Dysphagia, Hypopnea, 3... |
OMIM:617248 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Decreased... |
OMIM:241410 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic ... |
ORPHA:1001 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Tetrasomy 5P |
|
Respiratory distress, Epicanthus, Posteriorly rotated ears, Anteverted nares, Short hallux, Micro... |
ORPHA:3309 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Bruising susceptibility |
OMIM:619172 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Parkinsonism with favorab... |
ORPHA:240071 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Elb... |
ORPHA:3258 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, External ear ... |
ORPHA:251071 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... |
OMIM:616229 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Arrhythmia, Hepatic st... |
OMIM:255120 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
Lethal Congenital Contracture Syndrome 9 |
|
Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, Wrist flexion co... |
OMIM:616503 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Posteriorly rotated ears, Congenital diaphragmatic hernia, Long philtrum |
OMIM:300887 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Ovarian cyst, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Vomiting, Cough |
ORPHA:137935 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral ... |
OMIM:231070 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disease, Renal hypo... |
ORPHA:97362 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Vesicourete... |
OMIM:616580 |
Immunodeficiency 9 |
|
Death in infancy, Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, ... |
OMIM:612782 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Tremor, Renal hypoplasia, Horseshoe kidney, Failure to thrive |
ORPHA:94063 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy |
OMIM:123000 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Obesity, Compulsive behavio... |
OMIM:618430 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, E... |
ORPHA:3107 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Osteomyelitis, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join... |
OMIM:612852 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:3097 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Wide... |
OMIM:224410 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, High palat... |
ORPHA:2059 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, ... |
ORPHA:769 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... |
OMIM:151210 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:171695 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology |
OMIM:266500 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... |
ORPHA:2838 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Atelis Syndrome 2 |
|
Prominent nose, Micrognathia, Elevated circulating thyroid-stimulating hormone concentration, Dys... |
OMIM:620185 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia |
OMIM:601709 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the nose, Nasal polyposis, Pancreatic adenocarcinoma, In... |
ORPHA:2869 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegaly, Exercise-induced myoglob... |
OMIM:201475 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Accelerated skeletal matur... |
OMIM:245600 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimally ossified ve... |
ORPHA:66637 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Epistaxis, Abnormality of the musculature of the limbs, Hi... |
ORPHA:137667 |
Kinsship Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Downturned corners of mouth, Short philtrum, Wide... |
OMIM:619297 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... |
ORPHA:90658 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co... |
ORPHA:85184 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Desmosterolosis |
|
Micromelia, Micrognathia, Hypertonia, Bifid uvula, Low-set, posteriorly rotated ears, Depressed n... |
ORPHA:35107 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyse... |
OMIM:250420 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, L... |
ORPHA:672 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... |
ORPHA:2399 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... |
ORPHA:1318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Hypospadias, Repetitive compulsive behavior, Chorea, Bruxism, Dysphag... |
OMIM:300260 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Hypospadias, Bradycardia |
OMIM:619272 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorch... |
ORPHA:2510 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio... |
OMIM:614075 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Scapular winging, Lacrimal duct stenosis, Carious te... |
OMIM:615560 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation... |
OMIM:618395 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Conductive hearing impairment, Papilledema, Chronic diarrhea, Tempor... |
ORPHA:580 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Short neck, Thoracolumbar kyphoscoliosis, Diastema, Gingival o... |
OMIM:212066 |
Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ... |
OMIM:615518 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ... |
ORPHA:2414 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomegaly, Oral ulcer... |
ORPHA:50918 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Hypospadias, Uplifted earlobe, Kyphosis, Cleft pala... |
OMIM:616449 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, A... |
ORPHA:3035 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... |
ORPHA:1655 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Abnormality of... |
ORPHA:449563 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Hyposmia, Parkinsonism with favorable respo... |
OMIM:607060 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention ... |
OMIM:617914 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corn... |
OMIM:616364 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Gastroesophageal reflux, Myo... |
OMIM:300673 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Micrognathia, Tremor, Cryptorchidism, Flexion contracture, Respiratory insufficiency, Hype... |
OMIM:608093 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypertonia, Hypoplasia of the thy... |
OMIM:264090 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Micrognathia, ... |
ORPHA:1926 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Aspleni... |
ORPHA:244 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Multicy... |
OMIM:614527 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar hypoplasia... |
OMIM:161200 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Overweight, Repetitive compulsive behavior, Abnormality of the ear, At... |
ORPHA:391372 |
Rhyns Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:602152 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:453504 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Urinary incontinence, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesi... |
ORPHA:98760 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:352665 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Obesity, Enures... |
OMIM:619680 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hyperekplexia 3 |
|
Exaggerated startle response, Apnea, Hiatus hernia, Hypertonia, Syncope, Myoclonus, Gastroesophag... |
OMIM:614618 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Fatal Familial Insomnia |
|
Apnea, Ataxia, Dysphagia, Hyperhidrosis, Urinary retention, Abnormal autonomic nervous system phy... |
OMIM:600072 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s... |
OMIM:253250 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Sparse eyebrow, Carious teeth, Splenomegaly, R... |
OMIM:604173 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Abnormality of the dentition, Sparse... |
ORPHA:77258 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Knee flexion contracture, Hypertonia, Microdontia, Prominent cru... |
OMIM:619194 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Conjunctiva... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Conjunctiva... |
ORPHA:529808 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Bulbous nose, Short thumb, Hypoplasia o... |
OMIM:613951 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoaciduria, High palate, Death in child... |
OMIM:214100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr... |
OMIM:264700 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Posteriorly rotated ears, Cleft soft palate, Broad nasal tip, Abnormality of th... |
OMIM:618529 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... |
OMIM:164210 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... |
OMIM:215140 |
Congenital Myopathy 17 |
|
Failure to thrive in infancy, Renal hypoplasia, Low-set ears, Ureteropelvic junction obstruction,... |
OMIM:618975 |
Mosaic Trisomy 1 |
|
Microretrognathia, Thoracic scoliosis, Depressed nasal bridge, Camptodactyly of finger, Congenita... |
ORPHA:1692 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology |
ORPHA:280195 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossification, High... |
OMIM:271640 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Posteriorly rotated ears, Facial hypotonia, Dental crowding, Broad nasal tip, Protruding tongue, ... |
OMIM:618106 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Warburg-Cinotti Syndrome |
|
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... |
OMIM:618175 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Bowel incontinence, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollaki... |
ORPHA:93256 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Leprosy |
|
Absent eyebrow, Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Loss of eyelashes,... |
ORPHA:548 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Uplifted earlobe, Micrognathia, Synophrys, Ureterocele, Short palm, Microdontia, Depressed nasal ... |
OMIM:616734 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea, Ptosis |
OMIM:617622 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Hermansky-Pudlak Syndrome 8 |
|
Optic disc pallor, Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival blee... |
OMIM:614077 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Prominent nasal bridge, Hypoplasia of the pre... |
ORPHA:2673 |
Feingold Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, External ear malformation, Esophageal atr... |
ORPHA:1305 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop... |
OMIM:620210 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydrocephalus, Tracheoesophageal f... |
ORPHA:268249 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Branchiooculofacial Syndrome |
|
Micrognathia, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Ectopic thymus ... |
OMIM:113620 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Encephalocele, Epicanthus, Mandibular prognathia, Aplasia/Hypo... |
ORPHA:1908 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipi... |
OMIM:222300 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Abse... |
OMIM:244400 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Small for gestational age, Abnormal pinna morphology, Hypospadia... |
OMIM:123450 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Micrognathia, Rena... |
OMIM:250410 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Vacterl/Vater Association |
|
Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Non-midline cleft ... |
ORPHA:887 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,... |
OMIM:620099 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Absent nipple, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, High palate,... |
OMIM:104350 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Abnormal repetitive mannerisms |
OMIM:617393 |
C Syndrome |
|
Epicanthus, Short metacarpal, Posteriorly rotated ears, Anteverted nares, Accessory oral frenulum... |
OMIM:211750 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619690 |
Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Mastocytosis, Long nos... |
ORPHA:2135 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hyperlordosis, Central diap... |
OMIM:617450 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe |
ORPHA:411986 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising suscept... |
OMIM:614074 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Underdeveloped... |
ORPHA:2031 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Vesicoureteral... |
OMIM:244600 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Mic... |
OMIM:602398 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... |
OMIM:252500 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... |
OMIM:615444 |
Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Orofacial cleft, Protruding ... |
ORPHA:2322 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activity |
OMIM:617802 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Anhidrosis, Dental crowding, Ataxia, Delayed eruption of primary teeth, Ap... |
OMIM:617799 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Epicanthus, Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypog... |
ORPHA:251066 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Wide nose, Anteverted nares, Abnormal pinna morphology, Camptodactyly ... |
ORPHA:96061 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch... |
OMIM:187600 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Joint hypermobility, Pro... |
OMIM:617804 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr... |
OMIM:267000 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent nose, Long nose, Micrognathia, Highly arched eyebrow, Abnormality of the upper urinary ... |
ORPHA:2995 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cleft palate, Upslant... |
OMIM:156610 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo... |
OMIM:613848 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Micropenis, Macrotia, Abn... |
OMIM:619435 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Dysphagia, ... |
OMIM:618460 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Cryptorchidism, A... |
ORPHA:116 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Abnormal repetitive mannerisms, Dystonia |
ORPHA:280763 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Ureteral atresia, V... |
OMIM:618845 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Self-injurious behavior, Compulsive behavior... |
OMIM:613174 |
Teebi-Shaltout Syndrome |
|
High, narrow palate, Oligodontia, Small earlobe, Prominent palatine ridges, Ureteral stenosis, Hi... |
OMIM:272950 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Vesico... |
ORPHA:2745 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Anotia, Microtia, Attention deficit hyperactivity di... |
OMIM:614083 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Anteve... |
OMIM:247200 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro... |
OMIM:613457 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Rigidity, Thrombocytopenia, Splenomegaly, Trismus, Dysphagia, Stridor, H... |
OMIM:230900 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short palm, Abnormal... |
ORPHA:175 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral... |
OMIM:602111 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic lef... |
OMIM:601186 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Micrognathia, Cryptorchidism, H... |
ORPHA:1865 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... |
OMIM:146255 |
Sclerosteosis 1 |
|
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Dental malocclusion, 2-3 finger sy... |
OMIM:269500 |
Lathosterolosis |
|
Epicanthus, Hypoplasia of penis, Anteverted nares, Hearing impairment, Micrognathia, Bulbous nose... |
ORPHA:46059 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Protruding ear, Oligodontia, High pal... |
OMIM:309590 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradykinesia, Constipation, Abno... |
OMIM:168600 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Spast... |
OMIM:300894 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ... |
OMIM:618021 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, Short 5th fing... |
OMIM:227270 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Adrenal calcification, Nephrocalcinosis, Vomiting, Conductive hearing impai... |
ORPHA:51608 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... |
OMIM:618652 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... |
ORPHA:26793 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Spastic tetraparesis, Flexion contracture, Optic atrophy, Abnormal pyramidal sign, Apneic... |
ORPHA:35069 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Thrombocytopenia, Leukocytosi... |
ORPHA:94093 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Posteriorly rotated ears, Renal hypoplasia, Low-set ears, Micropenis |
OMIM:264480 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners of mouth, Sho... |
ORPHA:264200 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Choanal atresia, Intestinal malrotation, Optic disc coloboma, Secretory dia... |
OMIM:270420 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Sternocleidomastoid amyotrophy, Abnormal rib morphology, Small hand, Short foot, Thic... |
ORPHA:488434 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal deformities... |
OMIM:253000 |
Recombinant 8 Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cleft upper lip, Abnormality o... |
ORPHA:96167 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Micrognathia, Aqueductal stenosis, Absent thumb, Absent radius, Missing ri... |
OMIM:251230 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvar... |
OMIM:620076 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Chronic constipation, Respiratory failure, Episodic hypertension,... |
OMIM:619483 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Urinary incontinence, Steroid-dependent nephrotic syndrome, Aggressive beh... |
OMIM:300912 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteopor... |
ORPHA:94068 |
Acrofacial Dysostosis 1, Nager Type |
|
Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenosis, Conductive hearing impairment... |
OMIM:154400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Ataxia, Apnea, Cardiac arrest, Spastic hemiparesis, Thrombocytosis... |
ORPHA:20 |
D-Glyceric Aciduria |
|
Aminoaciduria, Bradycardia, Micropenis |
OMIM:220120 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev... |
ORPHA:250999 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow, Hyp... |
ORPHA:464738 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E... |
ORPHA:549 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Thin ribs, High palate, ... |
OMIM:616294 |
C Syndrome |
|
Joint dislocation, Congenital diaphragmatic hernia, Micrognathia, Short neck, High palate, Abnorm... |
ORPHA:1308 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Hypop... |
OMIM:610828 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Jacobsen Syndrome |
|
Micrognathia, Flexion contracture, Eyelid coloboma, Holoprosencephaly, Depressed nasal bridge, An... |
OMIM:147791 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Chronic otitis media, Emphysema, Chronic sinusitis |
OMIM:604571 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Bi... |
OMIM:180849 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Posteriorly rotated ears, Facial palsy, Micrognathia, High... |
ORPHA:2780 |
Hamamy Syndrome |
|
Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Hypoparathyroidism, Antevert... |
OMIM:611174 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal reproduct... |
ORPHA:1666 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... |
ORPHA:228308 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing... |
OMIM:598500 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Arrhyt... |
ORPHA:42 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:617877 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Telecanthus, Anteverted nares, Diastasis recti, Uplifted earlobe, Broad... |
OMIM:618548 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum, Abnormal sternum morph... |
ORPHA:2847 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Limitation of joint mobi... |
ORPHA:93473 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... |
OMIM:618332 |
Vici Syndrome |
|
Death in infancy, Sensorineural hearing impairment, Optic atrophy, Ureteral atresia, Depressed na... |
ORPHA:1493 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Septo-optic dysplasia, Micro... |
ORPHA:3301 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Hypospadias, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse eyebrow, Sensori... |
OMIM:609944 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Trichorhinophalangeal Syndrome Type 2 |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear |
ORPHA:502 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... |
OMIM:619725 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear |
OMIM:602471 |
Autosomal Dominant Hypocalcemia |
|
Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Congenital diaphragmatic hernia, Aplastic clavicle,... |
OMIM:616546 |
Congenital Myopathy 11 |
|
Weakness of facial musculature, Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ... |
ORPHA:2044 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate,... |
ORPHA:453499 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o... |
OMIM:608670 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Pearson Syndrome |
|
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Hypomagnesemia, Thrombocytopeni... |
ORPHA:699 |
Coach Syndrome 2 |
|
Hydrocephalus, Hypertension, Apneic episodes in infancy, Oculomotor apraxia, Hyperechogenic kidneys |
OMIM:619111 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re... |
OMIM:614935 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... |
OMIM:311200 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
Marburg Hemorrhagic Fever |
|
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Renal insufficiency, Orchitis, Pa... |
ORPHA:99826 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Short ph... |
ORPHA:261337 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Lower limb muscle weakness, Apnea, Hydrocephalus, Optic atrophy, H... |
ORPHA:395 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Paroxysmal ver... |
ORPHA:29072 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corner... |
ORPHA:531151 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculo... |
ORPHA:240094 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment |
OMIM:126550 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... |
OMIM:614921 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Epicanthus, Posteriorly rotated ears, ... |
ORPHA:369950 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Apnea, Opisthotonus, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydro... |
OMIM:210200 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Ptosis, Anteverted nares, Hypospadias, Highly arched eyebrow, Cleft soft palate, Micrognathia, Cr... |
ORPHA:2282 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Cough, Microdontia, Hypothyroidism, Accessory spleen, Dep... |
OMIM:620005 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... |
OMIM:606003 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula... |
OMIM:265380 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern... |
OMIM:304110 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Submu... |
ORPHA:2189 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Lower limb spasticity, Depressed ... |
OMIM:620029 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia |
OMIM:619911 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Micrognathia, Long nose, Malar prominence, Deep philtrum,... |
OMIM:251260 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms |
OMIM:619317 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Microtia, Radioulnar synostos... |
OMIM:171480 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Sensorineural hearing impairment, Low-set ears, Recurrent otitis medi... |
OMIM:617751 |
Xia-Gibbs Syndrome |
|
Depressed nasal bridge, Uplifted earlobe, Micrognathia, Protruding ear, Upslanted palpebral fissu... |
OMIM:615829 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Eyelid myoclonus |
OMIM:619606 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia |
OMIM:145001 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Depressed nasal bridge, Intestinal malrotation, Abnormality of c... |
ORPHA:3426 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Prominent nose, Micrognathia, Anteriorly placed anu... |
OMIM:305450 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Rocker bottom... |
OMIM:208150 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Renal cyst, Microret... |
OMIM:229850 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormal tibia morphology, Split hand, Cl... |
ORPHA:1335 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Posteriorly rotated ears, Hypospadias, Craniosynostosis, Cleft upper... |
OMIM:615465 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytosis... |
OMIM:234200 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Bradykinesia, Abnormal autonomic nervous system physiology... |
ORPHA:778 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal deformities... |
OMIM:253010 |
Schisis Association |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, A... |
ORPHA:63862 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Distal Deletion 6P |
|
Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Abnor... |
ORPHA:96125 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Joint hypermobility, Thin ribs |
ORPHA:456328 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate, Conductive hearing impa... |
OMIM:102500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Ost... |
ORPHA:289157 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Sensorineural he... |
ORPHA:3241 |
Proximal 16P11.2 Microduplication Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:370079 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat... |
OMIM:269860 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Joint stiffness, Non-midlin... |
ORPHA:1300 |
Distal Deletion 12Q |
|
Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Vesicoureteral reflux, Micropenis,... |
ORPHA:96149 |
Isolated Anencephaly |
|
Cleft lip, Congenital diaphragmatic hernia |
ORPHA:563609 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:618885 |
Caudal Regression Syndrome |
|
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Maternal diabetes, Ectopic kidn... |
ORPHA:3027 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Choanal atresia, Micrognathia, Hypercalci... |
OMIM:156400 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms, S... |
OMIM:300486 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Supraventricular arrhythmia... |
ORPHA:99829 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... |
ORPHA:508 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular ... |
OMIM:617713 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft... |
OMIM:277170 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short... |
ORPHA:96334 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Head-banging, Horseshoe kidney, Attention defici... |
OMIM:619103 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of... |
ORPHA:2166 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Prominent nose, Long nose, Micrognathia, Hypertonia, Short palm, Bifid uvula, Abnorma... |
ORPHA:2636 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture... |
OMIM:259050 |
Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Protruding ear, Knee flexion contracture, Abnormal T cell morp... |
ORPHA:3132 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Posteriorly rotated ears, Underdeveloped antitragus, Unilateral renal agenes... |
OMIM:181270 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Pai Syndrome |
|
Encephalocele, Telecanthus, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft pala... |
ORPHA:1993 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh... |
OMIM:309500 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Aganglionic megacolon, Hearing impairment |
ORPHA:3440 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Ramos-Arroyo Syndrome |
|
Abnormal midface morphology, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Car... |
ORPHA:1051 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Anterior rib cupping, Metaphyseal sclerosis, Enlargement of the costochondra... |
OMIM:260400 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoplastic scapulae, Depressed nasal bri... |
ORPHA:1512 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... |
ORPHA:36234 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism |
ORPHA:412066 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Tracheomalacia, Micrognathia, Sp... |
ORPHA:1393 |
Primary Progressive Freezing Gait |
|
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Hypertensio... |
ORPHA:75567 |
Trisomy 18 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Camptodactyly of finger, C... |
ORPHA:3380 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Abnormality of the kid... |
DECIPHER:81 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Parkinsonism, Bowel incontinence, Rigidity, Upper motor neu... |
ORPHA:306674 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Telecanthus, Hypercapnia, Blepharophimosis, Fatty replacement of skeleta... |
OMIM:255995 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota... |
ORPHA:991 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Accessory ... |
OMIM:249000 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Dystonia, Abnormal repetitive manne... |
OMIM:613454 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... |
OMIM:188400 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:180860 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flexion contracture, ... |
OMIM:208050 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Anteverted... |
OMIM:616975 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... |
OMIM:609945 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cel... |
ORPHA:79644 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Abnormality of the humeroulnar joint |
ORPHA:2234 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Epicanthus, Depressed nasal bridge, Involuntary movements, Micrognathia,... |
ORPHA:284339 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Decreased body weight, Abnor... |
OMIM:618347 |
Scarf Syndrome |
|
Diastasis recti, Craniosynostosis, Pectus carinatum, Joint hyperflexibility, Short sternum, Long ... |
ORPHA:3134 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Ankle clonus, Tongue ... |
OMIM:211530 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Choanal atresia, Hypospad... |
OMIM:300712 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Cleft palate, Bradykinesia, Ptosis |
OMIM:614924 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Anteverted nares, Hearing impairment,... |
ORPHA:1620 |
Feingold Syndrome 1 |
|
Micrognathia, Asplenia, Vocal cord paralysis, High palate, Accessory spleen, Anteverted nares, Es... |
OMIM:164280 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme... |
ORPHA:555874 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Micrognathia, Cleft hard palate, Synophrys, Nephrocalcinosis, Conductive hearing... |
OMIM:300990 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
19P13.12 Microdeletion Syndrome |
|
Conductive hearing impairment, External ear malformation, Sensorineural hearing impairment, Low-s... |
ORPHA:254346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Dyspnea, Mediastinal lymphadenopathy... |
OMIM:181000 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperit... |
OMIM:602782 |
Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto... |
ORPHA:563612 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Telecanthus, Recurrent urinary tract infections,... |
ORPHA:2036 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... |
OMIM:300352 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Ectopic kidney, Flexion contra... |
OMIM:263650 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnor... |
ORPHA:500159 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Genu re... |
ORPHA:2969 |
White-Sutton Syndrome |
|
Joint laxity, Thin upper lip vermilion, Depressed nasal bridge, Facial hypotonia, Congenital diap... |
ORPHA:468678 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Pat... |
ORPHA:221120 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ataxia, Thickened helices, Impulsivity, Bruxism, Unilateral renal hypoplasia, Agitation, Low-set ... |
OMIM:619950 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Mucopolysaccharidosis, Type Vii |
|
Diastasis recti, Spatulate ribs, Joint stiffness, Pectus excavatum, Large iliac wing, Metatarsus ... |
OMIM:253220 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Micrognathia, Synophrys, Renal cyst, Anteriorly placed anus, Gastroesophageal reflux, Depressed n... |
ORPHA:495875 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Adrenal hypoplasia, Micrognathia, Flexion contracture, Neonatal death, Depr... |
OMIM:275210 |
Distal Deletion 19P |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears |
ORPHA:96129 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocation, Semilobar ho... |
OMIM:618651 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Anosmia, Small p... |
OMIM:612702 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Thick eyebrow, Hooded eyelid, Diastasis recti, Prominent nose, Prec... |
OMIM:618971 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... |
OMIM:263520 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Elbow dislocation, Abnormal ... |
ORPHA:2769 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Delayed... |
OMIM:608328 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the car... |
OMIM:271665 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... |
OMIM:618495 |
Maternal Phenylketonuria |
|
Epicanthus, Anteverted nares, Micrognathia, Bilateral ptosis, Esophageal atresia, Abnormal renal ... |
ORPHA:2209 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Avascular necrosis, Osteopo... |
ORPHA:1775 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Oral ulcer, Respiratory insufficiency, Localized pulmonar... |
OMIM:608710 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Dental crowding, Limited elbow movement, Joint stiffness, Delayed closure o... |
OMIM:614008 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Wide nose, Telecanthus, Depressed nasal bridge, Hydroureter, Hypoplasia... |
OMIM:300707 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Lateral clavicle hook, Cleft lip, Hori... |
OMIM:617925 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Meier-Gorlin Syndrome 2 |
|
Smooth philtrum, Abnormal pinna morphology, Underdeveloped nasal alae, Micrognathia, Patellar apl... |
OMIM:613800 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive... |
ORPHA:401777 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Hypocalcemia, Cholestasis |
ORPHA:746 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Macrotia, Multiple small medullary renal cysts, Renal hypoplasia, S... |
OMIM:118450 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hepatic calcification, Hypomagnesemia |
ORPHA:73224 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Hypospadias, Proteinuria, Glomerulonephritis, Nephrotic syndrome, Head tremor, Glomerular... |
OMIM:619428 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Radio-Renal Syndrome |
|
Respiratory distress, Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Rena... |
ORPHA:3015 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Spastic tetraplegia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Myoclonus, Jo... |
OMIM:614462 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, High palate, Gastroesophageal reflux, Hypothyroidism, Si... |
OMIM:619325 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Anteriorly placed anus, High palate, Short palm, Microdontia... |
OMIM:268400 |
Mend Syndrome |
|
Microretrognathia, Crossed fused renal ectopia, Posteriorly rotated ears, Prominent nasal bridge,... |
OMIM:300960 |
Kabuki Syndrome 1 |
|
Premature thelarche, Micrognathia, Protruding ear, High palate, Micropenis, Recurrent aspiration ... |
OMIM:147920 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys... |
ORPHA:2237 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, High palate, Conductive hearing impairment, Thick upper lip v... |
OMIM:607330 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Pectus excavatum... |
ORPHA:77301 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Multicystic kidney dysplasia, Abnormal dental morphology, Diastasis recti, C... |
ORPHA:2092 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Low-... |
OMIM:300472 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Hydroureter, Hypospadias, Camptodac... |
ORPHA:568 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:612069 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Hypot... |
ORPHA:438213 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... |
ORPHA:98849 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri... |
ORPHA:99843 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Decreased serum insulin-like growth facto... |
ORPHA:1596 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Joubert Syndrome 5 |
|
Central apnea, Occipital encephalocele, Ataxia, Episodic tachypnea, Impaired renal concentrating ... |
OMIM:610188 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Decreased amplitude of sensory... |
ORPHA:2388 |
Ring Chromosome 22 Syndrome |
|
Protruding tongue, Bulbous nose, Full cheeks, Thick vermilion border, Wide nasal base, Macrotia, ... |
ORPHA:1446 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Short philtrum, Micropenis, Depressed... |
ORPHA:96176 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Oligodontia, Prominent metopic ridge, Depressed nasal bridge, Cr... |
ORPHA:1272 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of ... |
ORPHA:97289 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Manganese Poisoning |
|
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... |
ORPHA:306682 |
Kagami-Ogata Syndrome |
|
Pursed lips, Diastasis recti, Thoracic hypoplasia, Coxa valga, Limitation of joint mobility, Bell... |
ORPHA:254519 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cl... |
OMIM:101400 |
Native American Myopathy |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Submucous cleft soft palate, Micrognathia, Bilater... |
ORPHA:168572 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Facial palsy, Furrowed tongue |
ORPHA:2483 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Action tremor, Rigidity, Splenomegaly, Esophageal varix, Truncal ataxia, Bra... |
ORPHA:309854 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Widely spaced teeth, High palat... |
OMIM:266920 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Kniest Dysplasia |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:156550 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Posteriorly rota... |
OMIM:270400 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognath... |
ORPHA:50945 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc... |
OMIM:118650 |
Stickler Syndrome, Type I |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:108300 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Tremor, Leukopenia, Vomiting, Tongue fasciculations, Nausea, Facial pals... |
ORPHA:297 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... |
ORPHA:466768 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Voc... |
ORPHA:64744 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Optic atrophy, Apnea, Renal steatosis |
OMIM:261680 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, High, narrow p... |
OMIM:612289 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Mixed hearing impairment |
OMIM:620012 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Weight loss, Unilateral renal ... |
ORPHA:49041 |
Faundes-Banka Syndrome |
|
Premature thelarche, Micrognathia, Gastroesophageal reflux, Long ear, Conductive hearing impairme... |
OMIM:619376 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Pectus excavatum, Joint laxity, Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:219100 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo... |
OMIM:305100 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, H... |
OMIM:610217 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morphology, Spleno... |
OMIM:216360 |
Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears |
ORPHA:1297 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Optic disc pallor, Somatic sensory dysfunction, ... |
ORPHA:191 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Iniencephaly |
|
Encephalocele, Congenital diaphragmatic hernia, Hyperlordosis, Spina bifida, Myelomeningocele, Ab... |
ORPHA:63259 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... |
OMIM:301044 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Micro... |
OMIM:613610 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis |
OMIM:613870 |
Hypoadrenocorticism, Familial |
|
Apnea, Vomiting, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Bradycardia |
ORPHA:565624 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra... |
OMIM:252940 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe synda... |
ORPHA:488642 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Oliguria, ... |
ORPHA:159 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Gingival overgrowth, Pectus carinatum, Macroglossia, Flared iliac wing, Short lon... |
ORPHA:79255 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Apnea, Abnormality of the dentition, Decreased nerve conduction velocity, Malabsorpti... |
ORPHA:285 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Atresia of the external auditory canal, Conducti... |
OMIM:601808 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Leukocytosis,... |
ORPHA:829 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Intestinal obstruct... |
OMIM:243150 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Cryptorchidism, Do... |
ORPHA:96147 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Dyspnea, Sp... |
ORPHA:90340 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Macrotia, Low-set ears |
ORPHA:276432 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ... |
ORPHA:565612 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Ade... |
ORPHA:124 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Tremor, Microgn... |
ORPHA:506358 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Hypospadias, Enuresis, Attention de... |
OMIM:619293 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Penoscrotal Transposition |
|
Epicanthus, Hypospadias, Renal agenesis, Micrognathia, Abnormality of the urethra, Penoscrotal tr... |
ORPHA:2842 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, Anteverted nares, Tracheomalacia, Protruding tongue, Gingival overgrowth,... |
OMIM:618797 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Arachnodactyly, Joint hypermobility, Sagittal craniosynostosis, Abse... |
ORPHA:500150 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal form of ... |
ORPHA:818 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Joint stiffness, Carious teeth, Metaphyseal wide... |
OMIM:253200 |
Hyperekplexia 1 |
|
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls |
OMIM:149400 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, High palate, Short philtrum, Death in childhood, Decreased fibul... |
OMIM:619127 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavi... |
ORPHA:228402 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Attention deficit hypera... |
ORPHA:488618 |
Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atresia, Vertebra... |
ORPHA:2052 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Myoclonus, Dysphagia |
OMIM:168601 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Wide cranial sutures, ... |
OMIM:610682 |
Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Midface retrusion, Protruding tongue |
DECIPHER:52 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bifid nasal tip, Bilateral cleft lip and palate, High pala... |
OMIM:618874 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Prominent nose, Long nose, Micrognathia, Hypothyroidism, Bifid uvula, Thyroid... |
ORPHA:3047 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide mouth, Thic... |
ORPHA:1517 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Op... |
ORPHA:1974 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Nephroblastoma, Hypospadias, Splen... |
OMIM:312870 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fi... |
OMIM:619036 |
Degcags Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Posteriorly rotated ears, Small for gestat... |
OMIM:619488 |
Penile Agenesis |
|
Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Fetal pyelectasis, Bilateral renal... |
ORPHA:49 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Epicanthus, Depressed nasal bridge, Micrognathia, Cryptorchidism, Small ha... |
ORPHA:85276 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Micrognathia, Long nose, Synophrys, Cleft palate, Protruding ear, Narrow palpebral fissure, High ... |
OMIM:301091 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Mandibular prognathia, Ureteral duplication, High, narrow palate, Hand tremor, Duplication of ren... |
ORPHA:457212 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Adr... |
OMIM:614863 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Wide anterior fontanel, Crypt... |
OMIM:300963 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears |
OMIM:608624 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Branchial fistula, Prominent nasal bridge, Choanal atresia, Camptodacty... |
ORPHA:261330 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje... |
ORPHA:268 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact... |
ORPHA:2908 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Flared met... |
ORPHA:2347 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Serkal Syndrome |
|
Malrotation of small bowel, Orofacial cleft, Congenital diaphragmatic hernia |
ORPHA:139466 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Progressive Supranuclear Palsy |
|
Rigidity, Tremor, Blepharospasm, Bradykinesia, Dysphagia |
ORPHA:683 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
Kapur-Toriello Syndrome |
|
Conductive hearing impairment, Low-set ears |
OMIM:244300 |
Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618205 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micro... |
OMIM:261540 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Ataxia, Repetitive compulsive behavior, Optic atrophy, Perineal hypospadias,... |
ORPHA:66634 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Bazex-Dupre-Christol Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ... |
OMIM:301845 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Urinary incontinence, Chorea, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Holoprosencephaly, Scoliosis, Thoracic hemivertebrae, Diabetes insipidus |
ORPHA:1445 |
Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment |
OMIM:602080 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Glossitis, Cheilitis |
ORPHA:90045 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Stridor, Apneic episodes in infancy |
OMIM:608390 |
Myotonia Fluctuans |
|
Stridor, Spasticity of facial muscles, Apnea |
ORPHA:99734 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ... |
ORPHA:36412 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Small hand, Short foot, Abnormal autonomic nervous system physiology, Hyperventilation |
OMIM:617903 |
Chikungunya |
|
Abnormal bleeding, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Diarrhea, Lymphadenop... |
ORPHA:324625 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment |
ORPHA:309288 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Self-mutilation, Obes... |
ORPHA:261494 |
Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... |
ORPHA:3318 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Micromelia, Abnormality of the dentition, T... |
ORPHA:3206 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Cryptorchidism, Heart murmur, Mitral valve prolapse, Abnormal... |
OMIM:615873 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Congenital diaph... |
OMIM:614437 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating lepti... |
ORPHA:2298 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Ataxia, Tremor, Overweight, Obesity... |
OMIM:619229 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Accessory ... |
ORPHA:564 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Increased urinary glycerol, Intermittent hyperventilation, Epi... |
ORPHA:348 |
Seckel Syndrome 9 |
|
Protruding ear, Convex nasal ridge, Congenital diaphragmatic hernia, Micrognathia |
OMIM:616777 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Cleft palate, Congenital diaphragmatic hernia, Anal atresia |
ORPHA:95706 |
Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia |
ORPHA:83600 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma, Lymphopenia |
ORPHA:2136 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertr... |
ORPHA:2348 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... |
OMIM:250220 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... |
OMIM:617600 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple g... |
OMIM:175200 |
Sotos Syndrome |
|
Posteriorly rotated ears, Low-set ears, Otitis media, Conductive hearing impairment, Macrotia |
OMIM:117550 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Cleft upper lip, Pectus excavatum, L... |
OMIM:614294 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Recurrent fractures, Micrognathia, Underdeveloped nasal alae, High,... |
ORPHA:2108 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, A... |
ORPHA:95699 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:177901 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsa... |
OMIM:276820 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:98754 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Spinal ... |
OMIM:277600 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... |
OMIM:313900 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Macr... |
ORPHA:258 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Micrognath... |
OMIM:619879 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Distal amyotrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Difficulty in... |
ORPHA:99949 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia |
OMIM:620296 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Palpitations, Bradycardia |
ORPHA:91355 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia,... |
OMIM:613406 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Leukopenia, High palate, Abnormality of the hypothalamu... |
ORPHA:84 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Opisthotonus, Hypoplasia of first ribs, Choanal stenosis, Shallo... |
OMIM:269150 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High palate, Micr... |
OMIM:135900 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Facial hypotonia, Craniosynostosis, Joint stiffness, Pe... |
ORPHA:309282 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Protru... |
OMIM:606232 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:98793 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:177904 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Leukocytosis, Sple... |
OMIM:615895 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Scrub Typhus |
|
Renal insufficiency, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension |
ORPHA:83317 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Renal tubula... |
OMIM:619575 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Cranial nerve compression, Leukopenia, High palate, Conductive hearing impairment, ... |
ORPHA:2785 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Microp... |
OMIM:618820 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Convex nasal ridge, Rectal prolapse, Hypoplastic facial bones |
OMIM:619793 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Flaring of lower rib c... |
OMIM:250250 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Abnormal tibia morphology, Flexion contracture, Osteoart... |
ORPHA:666 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Optic atrophy, Dysphagia, Macrotia, A... |
ORPHA:496641 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia... |
OMIM:268305 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Macrotia, Prominent antihelix, Inappropriate laughter, Failure to thrive, Abnormal repetitive man... |
OMIM:615802 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Protruding tongue, Cupped ear, Wide nas... |
OMIM:617062 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, L... |
ORPHA:47612 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... |
OMIM:300842 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, Chron... |
OMIM:300400 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Micrognathia, Anteverted ears, Crypto... |
OMIM:613884 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Hypospadias, Congenital diaphragmatic hernia, Broad nasal tip, Cryptorc... |
OMIM:618846 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Everted lower lip vermilion, Dense calvaria, Joint stiffness |
OMIM:252930 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Abnormal eyelid morphology, Micrognathia, ... |
ORPHA:2556 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy |
OMIM:252900 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Bradycardia |
ORPHA:70 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction |
OMIM:208550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... |
ORPHA:85167 |
Larsen Syndrome |
|
Conductive hearing impairment |
ORPHA:503 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Tetrasomy 9P |
|
Myositis, Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Shor... |
ORPHA:3310 |
Immunodeficiency 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:615816 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Hiatus h... |
OMIM:304150 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391428 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, H... |
OMIM:618426 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Melioidosis |
|
Shock, Pneumonia, Abnormality of the spleen, Acute infectious pneumonia, Abnormal parotid gland m... |
ORPHA:31202 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... |
OMIM:615656 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,... |
ORPHA:35858 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Proximal muscle we... |
ORPHA:99956 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corner... |
ORPHA:199 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertension, Cirrhosis... |
ORPHA:79083 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment |
OMIM:311300 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Downslanted palpebral fissures, Bifid uvula |
OMIM:155145 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Widely spaced teeth, Conductive hearing impairmen... |
ORPHA:709 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased he... |
OMIM:619259 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, At... |
OMIM:300986 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
ORPHA:90354 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Cryptorc... |
ORPHA:2879 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, Vasculitis... |
ORPHA:342 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Elbow flexion contracture, Knee flexion contracture, Low-set ears, Limb un... |
ORPHA:468699 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis mo... |
ORPHA:3404 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
ORPHA:84064 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality |
ORPHA:206448 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T... |
ORPHA:781 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Prominent nose, Prec... |
ORPHA:96191 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Thick nasal alae, ... |
ORPHA:744 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Micrognathia, Dysmetria, Protruding ear, Downturned corners of mouth, Gait ataxia, Han... |
OMIM:614756 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Renal dysplasia, Multicystic kidney dysplasia, Renal insuffi... |
OMIM:107480 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia |
ORPHA:2591 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... |
OMIM:203500 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion |
ORPHA:140936 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Myocarditis, Mediastin... |
ORPHA:809 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Kcnq2-Related Epileptic Encephalopathy |
|
Poor gross motor coordination, Apnea |
ORPHA:439218 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon... |
OMIM:619179 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Telecanthus, Hearing impairment, Micrognathia, Micromelia, Short metatarsal, H... |
OMIM:600383 |
Fraser Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Renal hypoplasia/aplasia, Cupped ear, Renal hypoplasia, A... |
OMIM:219000 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Diastasis recti, Unilateral hypoplasia of pectoralis major mu... |
ORPHA:1521 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Williams-Beuren Syndrome |
|
Hypercalciuria, Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in inf... |
OMIM:194050 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Short neck, Micrognathia, Bilateral cleft lip and palate, Bifid tongue |
ORPHA:2001 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, L... |
OMIM:615530 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Ataxia, Protruding ear |
ORPHA:2479 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Dental crowding, Hyperlordosis, Crypto... |
OMIM:616078 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper... |
OMIM:613658 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia... |
OMIM:305600 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Sensorineural hearing impairment, Bilateral ... |
ORPHA:300570 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Micrognathia, Aplasia/Hypoplasia involving the... |
ORPHA:1662 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy... |
ORPHA:544482 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Scimitar Syndrome |
|
Hypoplasia of the diaphragm, Abnormality of the vertebral column, Abnormal hemidiaphragm morphology |
ORPHA:185 |
Vacterl Association With Hydrocephalus |
|
Renal hypoplasia |
OMIM:276950 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Bulbous nose, Sensorineural hearing impairment, Hydrocephalus, Wide nasal bridge,... |
ORPHA:250989 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Failure to thrive, Abnormal repetitive mannerisms, Agitation |
ORPHA:927 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... |
ORPHA:97214 |
Achondroplasia |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:100800 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:90673 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Syncope, Rena... |
ORPHA:71273 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Cerebrooculonasal Syndrome |
|
Conductive hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears |
OMIM:605627 |
Aspergillosis |
|
Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Abnormal esophagus morphology |
ORPHA:1163 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Flexion contracture, Congenit... |
ORPHA:158684 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Wormian bones, Selective tooth agenesis, Pectus excavatum, High, narrow palate, Supe... |
OMIM:234100 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips... |
ORPHA:213 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Limb d... |
ORPHA:457351 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... |
ORPHA:2137 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Accessory oral frenulum, Hamartoma of tongu... |
ORPHA:434179 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:2502 |
Shwachman-Diamond Syndrome 2 |
|
Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, High palate, St... |
OMIM:617941 |
Oculodentodigital Dysplasia |
|
External ear malformation, Optic atrophy, Abnormality of the ear, Conductive hearing impairment, ... |
ORPHA:2710 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Meier-Gorlin Syndrome 6 |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot... |
OMIM:616835 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Bradycardia, Prolonged neonatal jaundice |
ORPHA:90674 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... |
ORPHA:131 |
8Q24.3 Microdeletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Asymmetry of the ears, Optic ... |
ORPHA:508488 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention d... |
ORPHA:476126 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Narrow mouth, Thoracolumbar ... |
OMIM:230600 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Microg... |
OMIM:301043 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormality of the kidney, Abnormal stomach morphology, Neonatal asphyxia, ... |
ORPHA:141127 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... |
OMIM:249100 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Small for gestational age, Hypospadias, Unilateral renal agenesis, Renal cyst,... |
ORPHA:464311 |
Limb Body Wall Complex |
|
Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bone... |
ORPHA:2369 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Abnormal temper tantrums, Low-set ears, Abnormal repetitive mannerisms |
ORPHA:457279 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t... |
OMIM:615948 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hype... |
ORPHA:98784 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears |
OMIM:235510 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Mucopolysacchariduria, Splenomegaly |
ORPHA:93474 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator... |
OMIM:619482 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Posteriorly rotated ears, Hypospadias, Prominent nose, Micrognathia, Bulbous n... |
OMIM:619268 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Pgm3-Cdg |
|
Conductive hearing impairment, Mild neurosensory hearing impairment, Chronic otitis media, Sensor... |
ORPHA:443811 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality... |
ORPHA:289 |
Norrie Disease |
|
Narrow nasal bridge, Diabetes mellitus, Clonus, Cryptorchidism, Sensorineural hearing impairment,... |
ORPHA:649 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, High, narrow pal... |
ORPHA:3472 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:168558 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures |
ORPHA:405 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... |
ORPHA:358 |
Cystic Fibrosis |
|
Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Reduced forced expiratory volume in on... |
ORPHA:586 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:215150 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Neonatal respiratory distress, Optic nerve hypoplasia, Micrognathia, Cryptorchi... |
OMIM:620025 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Ankle clonus, Apneic episodes in infancy, Hypertro... |
OMIM:618222 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ... |
OMIM:617088 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Protruding ton... |
OMIM:619777 |
Bosma Arhinia Microphthalmia Syndrome |
|
Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,... |
OMIM:603457 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Small for gestational age, Hypospadias, Unilateral renal agenes... |
ORPHA:464306 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... |
OMIM:208900 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... |
OMIM:614557 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Membranoproliferative glomerulonephritis, Micrognathia, Underdeveloped nasal alae, Mod... |
OMIM:619525 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:289548 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul... |
OMIM:180500 |
Acro-Renal-Ocular Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic disc coloboma, Aganglionic... |
ORPHA:959 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch... |
OMIM:175050 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Downturned corners of mouth, Exaggerated median... |
ORPHA:2729 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red ce... |
OMIM:613179 |
Giant Axonal Neuropathy |
|
Abnormality of the Achilles tendon, Limb muscle weakness, Abnormal pituitary gland morphology, Fa... |
ORPHA:643 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Juncti... |
OMIM:309801 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic c... |
OMIM:218330 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari... |
ORPHA:466943 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... |
OMIM:620242 |
Codas Syndrome |
|
Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment |
OMIM:600373 |
Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Micropenis, Abnormal repetit... |
OMIM:610954 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of facial mu... |
OMIM:617239 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splen... |
OMIM:615688 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetria, Gait ataxia, T... |
OMIM:617330 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Chand Syndrome |
|
Hydroureter, Depressed nasal bridge, Ataxia, Short fifth metatarsal, Cleft palate, Ankyloblepharo... |
ORPHA:1401 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Micropenis, Low-set ears, Vesicoureteral reflux, Overfolded helix, Pelvic kidney, Abnorm... |
OMIM:618653 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilat... |
ORPHA:468631 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... |
OMIM:258040 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Microtia, Polycystic kidney dysplasia, Low-set ears, Micropenis, Fa... |
OMIM:210710 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Dilatation of renal calices, Low-set ears, Dysphagia, Failure... |
ORPHA:319182 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Abnormal dental enam... |
ORPHA:534 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... |
OMIM:105210 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Pancytopenia, Homocystinuria, Megaloblastic anemia, Cystathioninuria, T... |
OMIM:277380 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Wide mouth, Widely sp... |
ORPHA:98794 |
Brucellosis |
|
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epididymitis, Ly... |
ORPHA:1304 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Urinary incontinence, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnor... |
ORPHA:447997 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Juvenile Sialidosis Type 2 |
|
Protruding tongue, Gingival overgrowth, Abnormal form of the vertebral bodies, Hepatosplenomegaly... |
ORPHA:93399 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Posteriorly rotated ears, Uplifted earlobe, Renal hypoplasia, Protruding ear, ... |
OMIM:607932 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Nephroblastoma, Hyperesthesia, Renal transitional cell carcinoma |
ORPHA:2874 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Oral leukoplakia |
OMIM:148210 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Dysmetria, Facial diplegia, Attention deficit hyperactivity disorder, Trunca... |
OMIM:619121 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Macrotia, Optic atroph... |
OMIM:619512 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u... |
ORPHA:653 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
3Mc Syndrome 1 |
|
Conductive hearing impairment, Hearing impairment |
OMIM:257920 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem... |
ORPHA:90041 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Tics, Otitis media, Compulsive behaviors, Micropenis, Decreased body weight, Abno... |
OMIM:619475 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Thick lower lip vermilion, Broad ischia, Diaphyseal dysp... |
OMIM:619727 |
Feingold Syndrome Type 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
ORPHA:391641 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Cleft lip, Hip dislocation, Cleft palate, Genu valgum, Hip dysplasia, Everted low... |
OMIM:301066 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Hypoglossia-Hypodactylia |
|
Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... |
OMIM:230000 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... |
ORPHA:89842 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Monosomy 18Q |
|
Sensorineural hearing impairment, Macrotia, Bilateral conductive hearing impairment |
ORPHA:1600 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os... |
OMIM:612301 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Adrenal hypoplasia, Alobar holop... |
OMIM:157170 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia |
OMIM:609454 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... |
OMIM:607326 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Neph... |
OMIM:269700 |
Hunter-Macdonald Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:611962 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Hip subluxation, ... |
OMIM:182250 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Urinary incontinence |
ORPHA:168782 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ureteropelvic junction obstruction, Exaggerated startle response, Posteriorly... |
OMIM:619522 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Low-set ears, Adrenal glan... |
OMIM:611812 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Abnormal pinna morphology, Aganglionic megacolon, Hypospadias, Aggressive behavior, ... |
OMIM:309800 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ... |
OMIM:133540 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, No permanent dentition, Flexion contracture, Gastroesophageal reflu... |
ORPHA:821 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ... |
OMIM:216400 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Hydroureter, Abnormal nasolacrimal system morphology, Choanal atresia, Camptodact... |
ORPHA:2273 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cholest... |
OMIM:300972 |
Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced v... |
OMIM:219700 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa... |
OMIM:619472 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Retrocollis, Dysphagia |
OMIM:601104 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Abnormal pinna morphology |
OMIM:164200 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Ataxia, Nephronophthisis |
OMIM:610688 |
Mucolipidosis Type Ii |
|
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media |
ORPHA:576 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Nephrolithiasis, Polycystic o... |
OMIM:608594 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Cowden Syndrome |
|
Pectus excavatum, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal p... |
ORPHA:201 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Obsessive-compulsive trait, Abnormal repetitive manne... |
ORPHA:168491 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Renal dysplasia, Obesity, Renal cyst, Hypercalciuria, Nephrocalcinosis, Congenital megaureter, Ab... |
ORPHA:369837 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia, Abnormality of the ova... |
ORPHA:2975 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy... |
OMIM:222700 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Acrofrontofacionasal Dysostosis 1 |
|
Mixed hearing impairment, Optic atrophy |
OMIM:201180 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Keratoconj... |
ORPHA:85448 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypo... |
ORPHA:79396 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hearing impairment |
ORPHA:536545 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypogonadotropic hypogonadism, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive beh... |
OMIM:620330 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Hydrocephalus, Gingival overgrowth, Hepatosplenomegaly, Low-set ears, Umbilica... |
ORPHA:93400 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage |
ORPHA:3042 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... |
ORPHA:1572 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Thoracoabdominal Syndrome |
|
Cleft palate, Congenital diaphragmatic hernia, Cleft upper lip |
OMIM:313850 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Cervi... |
OMIM:600001 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... |
OMIM:611881 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
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Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Multiple Endocrine Neoplasia, Type I |
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Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Angelman Syndrome |
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Mandibular prognathia, Precocious puberty in females, Protruding tongue, Wide mouth, Widely space... |
ORPHA:72 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary |
ORPHA:247768 |
Microsporidiosis |
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Myositis, Sinusitis, Osteomyelitis, Abnormality of the spleen, Abnormality of the parathyroid gla... |
ORPHA:2552 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Sinus bradycardia |
OMIM:618397 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Shock, Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external... |
ORPHA:90794 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... |
ORPHA:171 |
Down Syndrome |
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Conductive hearing impairment, Microtia, Aganglionic megacolon |
OMIM:190685 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, V... |
OMIM:619381 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Ankyloglossia With Or Without Tooth Anomalies |
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Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
New-Onset Refractory Status Epilepticus |
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Abnormal head movements |
ORPHA:363558 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Micropenis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Muir-Torre Syndrome |
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Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer |
ORPHA:587 |
Addison Disease |
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Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Short palm, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification, Short thorax,... |
ORPHA:93271 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Abn... |
ORPHA:32960 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Dental c... |
OMIM:225400 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Vipoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97282 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Abdominal obesity, Micropenis |
OMIM:619321 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Bladder Exstrophy |
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Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Bowel incontinen... |
ORPHA:93930 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Severe conductive hearing impairment |
ORPHA:230851 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Conductive hearing impairment, Overfolded helix, Uplifted earlobe |
OMIM:280000 |
Arboleda-Tham Syndrome |
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Recurrent urinary tract infections, Posteriorly rotated ears, Anteverted ears, Abnormal repetitiv... |
OMIM:616268 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
Grfoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... |
ORPHA:97261 |
Diamond-Blackfan Anemia 1 |
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Failure to thrive, Renal hypoplasia |
OMIM:105650 |
Ppoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97278 |
Aicardi-Goutières Syndrome |
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Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chron... |
ORPHA:51 |
Abetalipoproteinemia |
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Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Congestive heart failure, Hepatic fi... |
ORPHA:14 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang... |
OMIM:613471 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Hypochromic micr... |
ORPHA:97283 |
Developmental And Epileptic Encephalopathy 95 |
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Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Urethral stricture, Osteopenia, Erosion of oral mucosa, Renal insufficiency, Foot joint contractu... |
ORPHA:79408 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Hartnup Disease |
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Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Accessory spleen, Unilateral renal agenesis, Hypoplasia of the uterus, Hypoplastic labia majora, ... |
OMIM:618419 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Microcytic anemia, Cardiomegaly, Congestive heart failure, Splenomegaly, Epididymit... |
OMIM:256040 |
Niemann-Pick Disease, Type C2 |
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Ataxia, Abnormal repetitive mannerisms, Dysphagia, Dystonia |
OMIM:607625 |
Odontoonychodermal Dysplasia |
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Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Developmental And Epileptic Encephalopathy 31B |
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Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
Turnpenny-Fry Syndrome |
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Conductive hearing impairment, Satyr ear, Microtia, Low-set ears |
OMIM:618371 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... |
ORPHA:158668 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ea... |
OMIM:216340 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Increased VLDL cholesterol concentration, Portal hypertension, Conjugated hyperbili... |
OMIM:243800 |
Acrodermatitis Enteropathica |
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Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Mucoepithelial Dysplasia, Hereditary |
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Eosinophilia, Erythematous oral mucosa, Furrowed tongue, Hematuria, Keratoconjunctivitis, Hearing... |
OMIM:158310 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:529965 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Micrope... |
OMIM:619005 |
Duplication Of The Pituitary Gland |
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Thoracic scoliosis, Abnormality of masseter muscle, Abnormal pituitary gland morphology, Abnormal... |
ORPHA:314621 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Sandifer Syndrome |
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Abnormal head movements, Torticollis |
ORPHA:71272 |
Glucagonoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... |
ORPHA:97280 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Thrombocytopenia... |
ORPHA:79282 |
Vater/Vacterl Association |
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Syndactyly, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radius, Abnormal ri... |
OMIM:192350 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatitis, Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Cervical ribs, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2255 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Cleft palate, Neutropeni... |
ORPHA:79284 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms |
OMIM:617682 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Parathyroid Carcinoma |
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Pancreatitis, Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
Prader-Willi Syndrome Due To Translocation |
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Abnormality of the kidney, Obesity, Head-banging, Abnormal temper tantrums, Compulsive behaviors,... |
ORPHA:177907 |
Floating-Harbor Syndrome |
|
Conductive hearing impairment, Recurrent otitis media, Posteriorly rotated ears, Low-set ears |
OMIM:136140 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, Opis... |
ORPHA:217253 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Insulinoma, Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology |
ORPHA:276152 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Peripapillary atrophy, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears |
ORPHA:536467 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-injurious behavio... |
OMIM:612474 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cystocele, Arte... |
OMIM:130050 |
Kawasaki Disease |
|
Proteinuria, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopathy, Cheilitis, Sterile py... |
ORPHA:2331 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Horseshoe kidney, Opisthotonus |
ORPHA:508533 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Zollinger-Ellison Syndrome |
|
Jaundice, Hypercalcemia, Extrahepatic cholestasis |
ORPHA:913 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Bloo... |
ORPHA:436252 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:620305 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metacarpal morpholo... |
ORPHA:228123 |
Branchiootic Syndrome 3 |
|
Sensorineural hearing impairment |
OMIM:608389 |
Otopalatodigital Syndrome, Type Ii |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:304120 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms |
OMIM:300672 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Insulinoma, Hypercalcemia, Thymoma |
ORPHA:652 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Conductive hearing impairment, Low-set ears, Simple ear |
OMIM:201750 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul... |
OMIM:309000 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Conductive hearing impairment, Web... |
ORPHA:2152 |
Plague |
|
Chapped lip, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Enterocolitis, Enlarged mesen... |
ORPHA:707 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, ... |
ORPHA:261537 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Transposition of the gre... |
OMIM:256520 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k... |
ORPHA:261552 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypospadi... |
ORPHA:286 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Uterine rupture |
ORPHA:60030 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Abnormal repetitive mannerisms, Proteinuria |
OMIM:616682 |