| Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
| Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
| Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
| Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
| Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
| Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
| Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
| Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
| Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
| Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Usher Syndrome, Type Id |
|
Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
| Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment |
OMIM:604185 |
| Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Abnormal vestibular function, Hearing impairment |
OMIM:614934 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| 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 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| Idiopathic Bronchiectasis |
|
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Productive cough, ... |
ORPHA:60033 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusiti... |
OMIM:604571 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| 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 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Overfriendliness |
OMIM:618010 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
| Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... |
OMIM:612387 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Malar prominence, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Micrognathia |
ORPHA:436182 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
| 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 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Short stature |
ORPHA:2015 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypoca... |
ORPHA:36913 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h... |
OMIM:184460 |
| Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Delayed puberty, Short nose, Failure to thrive, Abnormality of the outer ear |
ORPHA:217340 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Severe short stature, Anteverted nares, Depressed nasal bridge,... |
OMIM:616835 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antiheli... |
ORPHA:79113 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Pulp calcification, Ta... |
OMIM:211900 |
| Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diff... |
OMIM:610717 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
| 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 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Dyspnea, Depressed nasal ridge,... |
ORPHA:1832 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Depr... |
ORPHA:94089 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, En... |
OMIM:612462 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Hyperactivity, Hypertriglyceridemia, Malar flattening, Self hugging, Head-... |
OMIM:182290 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Hypocalcem... |
OMIM:103580 |
| Ravine Syndrome |
|
Failure to thrive, Apnea, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Dyspnea, Sensorineural hearing impairment, Emphysema, Uveitis, Restricti... |
ORPHA:36412 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Meier-Gorlin Syndrome 4 |
|
Short stature, Birth length less than 3rd percentile, Microtia, Low-set ears, Intrauterine growth... |
OMIM:613804 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Hypophosphatasia |
|
Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:436 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Short stature, Continuous spike and waves during slow sleep, EEG with ... |
OMIM:245570 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Scoliosis, Micrognathia |
ORPHA:254531 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis |
ORPHA:60 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment |
OMIM:618379 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Polyphagia |
OMIM:617885 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ... |
OMIM:101800 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Micrognathia, Kyphosis, Insulin resistance, Osteoporosis... |
OMIM:615381 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Short stature, Broad nasal tip, Postnatal growth retardation, Emphysema, Promin... |
ORPHA:357074 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Recurrent pneumonia, Optic atrophy, Protruding ear, Growth delay, Intrauterine gro... |
ORPHA:1495 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short stature, Growth delay, Short nose, Macrotia |
ORPHA:438178 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Kyphosis, Hydroxyprolinemia, Osteoporosis, Hyperphosp... |
OMIM:239000 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoporosis, Depression, Hyperostosis frontalis interna, Hyperuricemia, Hyper... |
ORPHA:77296 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... |
OMIM:300455 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Chr... |
OMIM:616726 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Depression, Irritability, ... |
ORPHA:79444 |
| Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral densi... |
ORPHA:79443 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
| Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Hypoca... |
ORPHA:2323 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis... |
OMIM:242700 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Abnormal form of the vertebral bodies, Gait disturbance, Hyp... |
ORPHA:93160 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Micrognathia, Insulin resistan... |
ORPHA:2457 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Short stature, Short nose, Convex nasa... |
ORPHA:1695 |
| Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Scoliosis, Hypercholest... |
OMIM:616222 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares, Short stature |
ORPHA:1355 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
| Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Bone cyst, Hy... |
ORPHA:528 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia |
ORPHA:363400 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Cystinosis |
|
Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, A... |
ORPHA:213 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Short stature, Eczema, Skin rash, Asthma, Erythroderma, Emphysema |
ORPHA:634 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotio... |
ORPHA:428 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Respiratory insufficien... |
ORPHA:1914 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Low-set ears, Conductive hearing impairment, Intrauterine growth retardat... |
OMIM:616910 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
OMIM:613877 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Recurrent infections due to aspiration, Sensor... |
OMIM:617519 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
| Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Micrognathia, Kyphosis, Scoliosis, Hypercholesterolemia, Abnormal repetitive ... |
ORPHA:2479 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:280356 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Posteriorly rotated ears, Short stature, Bulbous nose, Wide nasal bridge, Growt... |
OMIM:613604 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Diabetes mel... |
ORPHA:249 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Postnatal growth retardation, Optic atro... |
OMIM:615419 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Hypertriglyceridemia, Delayed eruption of primary teeth, Micrognathia, Abn... |
ORPHA:819 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose, Short stature |
ORPHA:2370 |
| Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Short stature, Broad nasal tip, Large fleshy ears, Decreased... |
OMIM:602342 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Large earlobe, P... |
ORPHA:2962 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone tr... |
OMIM:264700 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Intrauterine growth retardation, Sensorineural hearing impairment, ... |
OMIM:615440 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... |
ORPHA:2549 |
| Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia |
ORPHA:1200 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Delayed epiphyseal ossification, Rickets, Irritability,... |
OMIM:277440 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... |
ORPHA:50815 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
| Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Depressed nasal b... |
OMIM:245150 |
| Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypercholesterolemia, Hypoglycemia, Micrognathia |
ORPHA:633 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, Wide n... |
OMIM:616430 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Broad nasal tip, Overweight, Recurrent upper respiratory tract infecti... |
ORPHA:391372 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... |
ORPHA:1529 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Short stature, Anteverted nares, Pneumonia, Bronchiectasis, Lo... |
OMIM:242860 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Hyperpho... |
ORPHA:93325 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
| Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Short stature, Abnormality of the middle ear ossicles, Sensorineural he... |
OMIM:609166 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... |
ORPHA:2088 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Nocardiosis |
|
Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Irritability, ... |
ORPHA:289157 |
| Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, EEG abnormality, Shor... |
ORPHA:99688 |
| Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... |
ORPHA:949 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Hypercholesterolemia, Type II diabetes mellitus, Cervical kyphosis |
ORPHA:401923 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Small for gestational age, Recurrent upper respiratory tract infection... |
ORPHA:3078 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Aplasia/Hypoplasia of the lungs, Abnormal antihelix morphology, Microtia, Intraute... |
ORPHA:2145 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Scoliosis, Reduced bone mineral density |
ORPHA:2611 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert... |
OMIM:610015 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Large earlobe, Low-set ears, Short nose, Low h... |
OMIM:617752 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Scoliosis, Micrognathia |
ORPHA:96184 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Osteoarthritis, Disproportionate short-limb short stature, Shor... |
OMIM:618618 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin... |
OMIM:600081 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal... |
ORPHA:3236 |
| Spastic Paraplegia 16, X-Linked |
|
Restlessness, Hypoplasia of the maxilla, Shuffling gait, Low frustration tolerance, Emotional lab... |
OMIM:300266 |
| Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Recurrent sinusitis |
OMIM:620282 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Respirato... |
OMIM:218000 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip |
OMIM:613670 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlor... |
ORPHA:98855 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Emotional lability, ... |
ORPHA:179494 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... |
ORPHA:247815 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Impaired glucose tolerance, Micrognathia, Hyperlipidemia, Insulin-resista... |
OMIM:248370 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res... |
OMIM:619632 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Small for gestational age, Po... |
OMIM:613320 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... |
ORPHA:157215 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Recurrent sinusitis |
OMIM:613101 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Irritability, Ataxia, Abnormal head movements |
ORPHA:71518 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:261120 |
| Cog4-Cdg |
|
Irritability, Hypercholesterolemia, Ataxia |
ORPHA:263501 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Short nose, Short stature, Cachexia |
ORPHA:1389 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypopl... |
OMIM:618828 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Lethargy |
ORPHA:2089 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Postnatal growth retardation, Pulmonary hypoplas... |
OMIM:616733 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
| 17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Short nose |
ORPHA:217385 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Inability to walk, Osteolysis involving tars... |
OMIM:166300 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Osteoporosis of vertebrae, Multiple small vertebral fractures, Platysp... |
OMIM:156510 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Small for gestational age, Birth length less than 3rd percentile, Microtia,... |
OMIM:224690 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Ath... |
ORPHA:382 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:618506 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Postnatal growth retardation, Low-set ears, Intrauterine growth retardati... |
OMIM:614732 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Neuhauser Syndrome |
|
Osteopenia, Ataxia, Micrognathia, Dysphagia, Hypercholesterolemia |
OMIM:249310 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Respiratory insufficiency, Low-set ears, Short nose, Failure t... |
ORPHA:1895 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Facial palsy, Sensorineural h... |
OMIM:614744 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlor... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlor... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlor... |
ORPHA:98853 |
| Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Dyspnea, Iridocyclitis, Emphysema, Bronchiectasis, Abnormal pulmonary interstit... |
OMIM:181000 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Short nose, Macrotia, Hearing... |
ORPHA:2701 |
| Miller-Dieker Syndrome |
|
Growth delay, EEG abnormality, Short nose, Anteverted nares |
ORPHA:531 |
| Acromicric Dysplasia |
|
Severe short stature, Anteverted nares, Decreased nerve conduction velocity, Bulbous nose, Short ... |
ORPHA:969 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Short stature, Wide nasal bridge, Low-set ears, Short nose |
OMIM:614701 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Obesity, Large earlobe, Short nose, Macrotia |
OMIM:617991 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordos... |
OMIM:613327 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... |
ORPHA:1435 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:616026 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Polyphagia, Hyperinsulinemia |
ORPHA:66628 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Irritability |
ORPHA:369 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... |
ORPHA:79237 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Scoliosis |
OMIM:619013 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Stenosis of the exter... |
OMIM:249620 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Craniosynostosis, Scoliosis, Attention deficit hyperactivity disorder, Abnormal r... |
OMIM:618906 |
| Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, Wide nasal bridge, Hypoxemia, Low-set e... |
ORPHA:284979 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Failure to... |
OMIM:616420 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Short stature, Short nose, Macrotia |
OMIM:300558 |
| Fragile X Syndrome |
|
Mandibular prognathia, Abnormal head movements, Hyperactivity, Self-biting, Scoliosis, Recurrent ... |
OMIM:300624 |
| Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, ... |
OMIM:243310 |
| Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria |
OMIM:613388 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Low-set ears, Short nose |
OMIM:613544 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Growth delay, Large earlobe, Short nose |
OMIM:615716 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Short stature, Pulmonary arterial hypertension, Shor... |
OMIM:300887 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, Macrotia |
OMIM:620292 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short stature, Small for gestational age, Optic atrophy, Low-set ears, Short nose, Fai... |
OMIM:614261 |
| Arthrogryposis, Distal, Type 2A |
|
Recurrent respiratory infections, Small for gestational age, Abnormal auditory evoked potentials,... |
OMIM:193700 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
ORPHA:79085 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Small for gestational age, Postnatal growth retardation, Congenital sensorineural ... |
ORPHA:73272 |
| Peho-Like Syndrome |
|
Short nose, Optic atrophy, Hypsarrhythmia |
OMIM:617507 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Cupped ear... |
OMIM:613870 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Interictal EEG abnormality, Sensorineural hearing impa... |
ORPHA:544503 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Decreased body weight, Anteverted nares, Small for gestational age, Proportionate shor... |
ORPHA:391408 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Diabetes mellitus, Elevated circulating creatine kinase concentration, Insu... |
OMIM:615980 |
| Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Thickened helices, S... |
ORPHA:2849 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait |
ORPHA:251282 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-ind... |
ORPHA:3077 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Short stature, Prominent nasal bridge, Intermittent hyperventilation, Broad na... |
OMIM:300749 |
| Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Gait disturbance, Hypocalcemia, Hypophosphatemia, Abnormal verteb... |
ORPHA:352540 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
| Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Short stature, Facial palsy, Prominent nose, Bulbous nose, Sensorineural ... |
OMIM:301022 |
| Codas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, Midlin... |
ORPHA:1458 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Insulin-resistant diabet... |
OMIM:203800 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Seckel Syndrome 10 |
|
Microretrognathia, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glu... |
OMIM:617253 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Hyp... |
OMIM:307800 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Overfolded helix, Abnormal helix morphology, Low-set ears, Intrauterine g... |
ORPHA:1913 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short stature, Choanal stenosis, Low-s... |
OMIM:619859 |
| Fabry Disease |
|
Short stature, Dyspnea, Vertigo, Sensorineural hearing impairment, Chronic pulmonary obstruction,... |
ORPHA:324 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, Depression, Self-biting, Stereotypic... |
ORPHA:293939 |
| Teebi Hypertelorism Syndrome 2 |
|
Short nose, Depressed nasal bridge, Hearing impairment, Broad nasal tip |
OMIM:619736 |
| Even-Plus Syndrome |
|
Severe short stature, Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis, Microtia, Short ... |
OMIM:616854 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300554 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Short columella, Microtia, Low-set ears, Short... |
ORPHA:171839 |
| Multiple Synostoses Syndrome 1 |
|
Stapes ankylosis, Underdeveloped nasal alae, Wide nasal bridge, Progressive conductive hearing im... |
OMIM:186500 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis |
ORPHA:2776 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
ORPHA:79083 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
ORPHA:2348 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Wide nasal bridge, Growth delay, Pulmonary hypoplasia, Tracheom... |
OMIM:613177 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Episodic tachypnea, Apneic episodes in infancy, Low-set ears, Short nos... |
ORPHA:163961 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Abnormal pinna morphology, Depressed nasal bridge, Bulbous nose, Low... |
OMIM:614437 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Abnormal pinna morphology, Short stature, Long nose, Bulbous nose, Absent nasal... |
ORPHA:261211 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Scoliosis, Narrow vertebral inte... |
OMIM:601216 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Bilateral conductive hearing impairment, Low-set ears, Interictal epilept... |
OMIM:617802 |
| Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Anteverted nares, Sensorineural hearing impairment, Hypsarrhythmia, Short nose... |
OMIM:617201 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia, Micrognathia |
OMIM:616730 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Short stature, Rhizomelia, Small for gestational age, Bulbous nose, Abnor... |
OMIM:614114 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Short stature, Wide nasal bridge, Hearing impairment |
OMIM:614078 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus |
OMIM:614816 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, EEG abnormality |
OMIM:618218 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Posteriorly rotated ears, Anteverted nare... |
ORPHA:3309 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Growth delay, Intrau... |
ORPHA:2083 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Stickler Syndrome Type 1 |
|
Short nose, Osteoarthritis, Sensorineural hearing impairment |
ORPHA:90653 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Short stature, Bulbous nose, Wide nasal bridge, Multifocal epileptiform d... |
ORPHA:369891 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Underfolded helix, Pr... |
OMIM:618316 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, O... |
ORPHA:79240 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short nose, Short stature, EEG with multifocal slow activity |
ORPHA:289266 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Waddling gait, Hypercalcemia, Micrognathia, Hypophosphatemia |
OMIM:156400 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... |
ORPHA:2031 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:79086 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Kyphoscoliosis, Micrognathia |
OMIM:618348 |
| Mccune-Albright Syndrome |
|
Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of the bones, Dental malocclusion, Abno... |
ORPHA:562 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... |
OMIM:618619 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Glycogen Storage Disease Iii |
|
Malar flattening, Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Hypoglycemia |
OMIM:617575 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Short stature, Overfolded helix, Microti... |
OMIM:610536 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Recurrent... |
ORPHA:314655 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Short stature, Depressed nasal bridge, Abnormal auditory evoked potentials, Se... |
OMIM:619260 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Posteriorly rotated ears, Small for gestational age, Wide nasal bridge, Large f... |
OMIM:616897 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... |
ORPHA:412 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Bronchiectasis, Emphysema, Convex nasal ridge, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Depressed nasal ridge, Low-set ears, Intrauterine growth retardation, ... |
OMIM:300863 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Vertebral clefting, Scoliosis, Patchy distortio... |
ORPHA:1248 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati... |
ORPHA:435660 |
| Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Disproportionate short stature, Aplasia/Hypoplasia of the... |
ORPHA:93298 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia... |
OMIM:227810 |
| Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse bone trabeculae, Hypop... |
OMIM:300009 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Short nose, Severe short stature, Anteverted nares |
ORPHA:932 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... |
OMIM:130050 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Optic atrophy, Restrictive ... |
ORPHA:538 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Short stature, Lo... |
ORPHA:93329 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Hearing abnormality,... |
ORPHA:1912 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal growth r... |
OMIM:613026 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Short stature, Small for gestational age, Tachypnea, Abnormal pulmonary interstitial morphology, ... |
OMIM:613658 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Recurrent respiratory infections, Mixed hearing impairment, Neonatal respiratory d... |
ORPHA:79345 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Sh... |
ORPHA:1327 |
| Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Dysmetria, Depression, Gait ataxia, Bradykinesia, Gait dis... |
ORPHA:157941 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Depression, Abnormal emotion, Increased ... |
ORPHA:444490 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Depression, Attention deficit hyperactivity dis... |
ORPHA:90674 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... |
OMIM:615866 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
| Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Short stature, Broad nasal tip, Postnatal growth retardation,... |
ORPHA:2834 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Hearing impairment |
OMIM:256600 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose |
ORPHA:2429 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Op... |
OMIM:619383 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... |
ORPHA:284169 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment |
ORPHA:2143 |
| Verheij Syndrome |
|
Anteverted nares, Short stature, Small for gestational age, Broad nasal tip, Optic nerve hypoplas... |
OMIM:615583 |
| Diamond-Blackfan Anemia 8 |
|
Growth delay, Short nose, Short stature, Wide nasal bridge |
OMIM:612563 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:264580 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Depression, Hypophosphatemia |
OMIM:600740 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Irritab... |
OMIM:603553 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormality of the stapes, Failure to thrive in infancy, Aganglionic megaco... |
ORPHA:798 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia, Addictive alcohol use |
ORPHA:90065 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Co... |
OMIM:170100 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Short stature, Abnormal auditory evoked potentials |
OMIM:109120 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Depressed nasal bridge, Short stature, Optic atrophy, Intrauterine grow... |
OMIM:619833 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Growth delay, Short nose, Peripheral p... |
OMIM:614749 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Kyphosis, Hypoplasia of the maxilla, Scoliosis |
OMIM:300676 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Optic atrophy, Conductive hearing impairment, Short nose, Fail... |
ORPHA:561 |
| Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Bronchiectasis, Protruding ear, Pyelonephritis, Low-set ears, Bronc... |
ORPHA:90348 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Maculopapular exanthema, Facial palsy, Abnormal pleura morpholo... |
ORPHA:797 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:435651 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Prominent nasal bridge, External ear malformation, Pulmonary artery stenosis, Wide... |
ORPHA:251071 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Postnatal growth retardation, O... |
ORPHA:439822 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Micrognathia, I... |
ORPHA:280365 |
| Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Short nose, Severe short stature, Anteverted nares |
ORPHA:93299 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials |
OMIM:617523 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity |
ORPHA:397973 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, R... |
OMIM:620157 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Depressed nasal bridge, Failure to thrive in infancy, Proportionate sho... |
ORPHA:500150 |
| Ellis Van Creveld Syndrome |
|
Failure to thrive, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Emphysema, N... |
ORPHA:289 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Short stature, Skin rash, Underdeveloped nasal alae, Recurrent bronchopul... |
OMIM:604173 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Sho... |
ORPHA:1716 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Depressed nasal bridge, Short stature, Narrow nasal ridge, Prominent nose, Low... |
ORPHA:363528 |
| Cadds |
|
Intrauterine growth retardation, Short nose, Cholangitis, Sensorineural hearing impairment |
ORPHA:369942 |
| Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Small for gestational age, Abnormal Eustachi... |
ORPHA:199302 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper... |
ORPHA:470 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Uplifted earlobe |
OMIM:300143 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase concentration, Reduced b... |
ORPHA:261476 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Failure to thrive, Depressed nasal bridge, Low-set ears |
OMIM:608776 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Abnormal pattern of respiration |
ORPHA:833 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Depressed nasal ridge, Low-set ears, Intrauterine growth retardation, ... |
ORPHA:163966 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Scoliosis, Malar... |
ORPHA:369837 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements |
ORPHA:79136 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Severe short stature, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Pyelonephriti... |
ORPHA:90349 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Hypertriglyceridemia, Diabetes mellitus, Hype... |
OMIM:608594 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Delayed puberty |
ORPHA:2598 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Beaking of vertebral bodies, Mandibular prognathia, Kyphoscoliosis, Hypoplasia of the... |
OMIM:231070 |
| Microphthalmia With Limb Anomalies |
|
Posteriorly rotated ears, Depressed nasal bridge, Postnatal growth retardation, Flared nostrils, ... |
OMIM:206920 |
| Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... |
ORPHA:171929 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Optic atrophy, Large earlobe, Short nose, Failure to thrive |
OMIM:615851 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Microtia, Low-set, posteriorly rotated ears |
ORPHA:2983 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Short nose, Optic atrophy, Neonatal respiratory distress |
OMIM:615042 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Hypertriglyceridemia, Diabetes mellitus, Kyphoscoliosis, Microgna... |
ORPHA:536532 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Protruding ear, Growth delay, Abnormal antihelix morphology... |
ORPHA:261144 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmo... |
OMIM:619708 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Elevated circulating creatine kinase concentration, Aggressive behavior, Elevated m... |
OMIM:309000 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Obesity, Low-set ears, Short nose |
OMIM:618430 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Scoliosis, Bruxism |
ORPHA:289522 |
| Insulin-Like Growth Factor I Deficiency |
|
Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Decreased body wei... |
OMIM:608747 |
| Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Scoliosis, Attention deficit hyperactivity disorder, Micrognathia |
ORPHA:776 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Posteriorly rotated ears, Short stature, Low-set ears, Conductive hearing impai... |
OMIM:617877 |
| Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Short stature, Depressed nasal ridge, Wide nasal bridge... |
ORPHA:950 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Obesity, Mild short stature, Short nose, Intrauterine g... |
OMIM:614613 |
| 16P12.1P12.3 Triplication Syndrome |
|
Bulbous nose, Large earlobe, Low-set ears, Intrauterine growth retardation, Short nose, Failure t... |
ORPHA:485405 |
| Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Recurrent upper respiratory t... |
ORPHA:264450 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Obesity, Microtia, Short nose, Macrotia, Hearing impairment |
OMIM:620250 |
| Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Short stature, Wide nasal bridge, Hypoxemia, ... |
ORPHA:2282 |
| Meckel Syndrome, Type 8 |
|
Short nose, Depressed nasal ridge, Low-set ears |
OMIM:613885 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-trunk... |
OMIM:608022 |
| Chops Syndrome |
|
Anteverted nares, Short stature, Tracheomalacia, Optic atrophy, Obesity, Anomalous pulmonary veno... |
OMIM:616368 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hypoammonemia, Micrognathia, Compulsive behaviors, Abnormal repetitive man... |
ORPHA:534 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hemoglobin A1c... |
OMIM:269700 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Microtia, Pulmonary hypopl... |
OMIM:608013 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Optic atrophy, Short nose |
ORPHA:1185 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Trisomy 12P |
|
Short stature, Wide nasal bridge, Abnormal antihelix morphology, Low-set ears, Short nose |
ORPHA:1699 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia |
ORPHA:2547 |
| Rett Syndrome |
|
Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, Agitation, Gait distur... |
ORPHA:778 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Hypophosphatemia, Polydipsia |
ORPHA:411629 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Ataxia |
ORPHA:79476 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short nose |
OMIM:618437 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of primary teeth, Hype... |
ORPHA:763 |
| Distal Deletion 10Q |
|
Failure to thrive, Short stature, Prominent nasal bridge, Prominent nose, Postnatal growth retard... |
ORPHA:96148 |
| Johanson-Blizzard Syndrome |
|
Short stature, Underdeveloped nasal alae, Sensorineural hearing impairment, Abnormal nostril morp... |
ORPHA:2315 |
| Pallister-Hall-Like Syndrome |
|
Short nose, Depressed nasal bridge, Pulmonary hypoplasia, Short stature |
OMIM:241800 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Overfolded helix, Low-set ears, Short nose, Failure to thrive |
OMIM:613735 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Hypoplasia of t... |
ORPHA:1798 |
| Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wi... |
ORPHA:894 |
| Peho Syndrome |
|
Recurrent respiratory infections, Anteverted nares, External ear malformation, Optic atrophy, Hyp... |
ORPHA:2836 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Prominence of the premaxilla, Abnormal ... |
OMIM:614886 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypoplasia o... |
OMIM:608612 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Short stature |
ORPHA:1514 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Osteoporosis, Lethargy |
OMIM:307030 |
| Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Short stature, Anteverted nares, Low-set ears, Short nose |
OMIM:601853 |
| Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Progre... |
OMIM:105830 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
ORPHA:2789 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdevelop... |
OMIM:300912 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Carious teeth, Hyperlipidemia, Osteoporosis, Hypo... |
ORPHA:79259 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Aggressive behavior |
ORPHA:85279 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Rickets, Tooth abscess, Reduced bo... |
ORPHA:89936 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Depressed nasal bridge, Anteverted nares, Severe postnatal growth retardation, Con... |
OMIM:613038 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Short stature, Abnormality of the middle ear ossicles, Low-set ears, Co... |
OMIM:130720 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Short nose, Failur... |
OMIM:619179 |
| Toluene Embryopathy |
|
Short nose, Short stature, Low-set ears, Protruding ear |
ORPHA:1920 |
| Non-Distal Duplication 13Q |
|
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes |
ORPHA:1702 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Short stature, Small for gestational age, Sensorineural hearing impairmen... |
OMIM:300661 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Severe short stature, Depressed nasal bridge, Abnormality of t... |
ORPHA:35107 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, ... |
ORPHA:364577 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose, Multifocal epileptiform discharges |
OMIM:618087 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Subperiosteal b... |
OMIM:259775 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Ataxia, Aggressive behavior, Hypoplasia of the maxilla, Inability to wal... |
ORPHA:481152 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla |
OMIM:608154 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Pro... |
OMIM:170390 |
| Odontochondrodysplasia |
|
Respiratory distress, Short nose, Depressed nasal bridge, Short stature |
ORPHA:166272 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, EEG ab... |
ORPHA:261236 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... |
ORPHA:1642 |
| 3C Syndrome |
|
Recurrent respiratory infections, Short stature, Depressed nasal bridge, Postnatal growth retarda... |
ORPHA:7 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Cupped ear, Tot... |
OMIM:602398 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis, Growth delay, Respi... |
ORPHA:3240 |
| Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy |
ORPHA:469 |
| Tetrasomy 12P |
|
Cachexia, Short nose, Anteverted nares, Short stature |
ORPHA:884 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Optic atrophy, Wide nasal bri... |
ORPHA:2510 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Short stature, Neonatal asphyxia, Sensorineural hearing impairment, Respiratory insuff... |
OMIM:608779 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Desbuquois Dysplasia 1 |
|
Neonatal respiratory distress, Severe short stature, Depressed nasal bridge, Osteoarthritis, Obes... |
OMIM:251450 |
| Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment |
ORPHA:93258 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Jerky head movements, Dysphagia |
ORPHA:240103 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia... |
ORPHA:77293 |
| Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... |
ORPHA:206436 |
| Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Asymmetry of the ears, Postnatal growth retardation, Optic atrophy, Short... |
OMIM:614225 |
| Aarskog-Scott Syndrome |
|
Anteverted nares, Short stature, Wide nasal bridge, Large earlobe, Delayed puberty, Mild short st... |
OMIM:305400 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Mixed hearing impairment, Thickened helices, Adenoiditis, Abn... |
ORPHA:581 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
| Femoral-Facial Syndrome |
|
Short nose, Microtia, Short stature, Low-set ears |
ORPHA:1988 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Scolios... |
OMIM:108721 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural ... |
OMIM:616331 |
| Treacher Collins Syndrome 2 |
|
Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he... |
OMIM:613717 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Short stature, Tracheomalacia, Dyspnea, Pulmo... |
ORPHA:261494 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Postnatal growth retardation, Sensorineural hearing impairment, Low-set ears, I... |
OMIM:612394 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Low-set ears, Tracheomalacia, Sten... |
ORPHA:93260 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Scoliosis, Advanced eruption of teeth, Retr... |
OMIM:614753 |
| Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,... |
ORPHA:558 |
| 20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T... |
ORPHA:363659 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, EEG with burst suppression, Optic atrophy... |
ORPHA:329178 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... |
OMIM:240300 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Posteriorly rotated ears, Short stature, Broad nasal tip, Wide nasal bridge, Lo... |
OMIM:618529 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge, Short stature |
ORPHA:2835 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Intrauterine growth retardati... |
ORPHA:1915 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... |
OMIM:222448 |
| Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
| Viss Syndrome |
|
Exostosis of the external auditory canal, Chronic gastritis, Failure to thrive, Depressed nasal b... |
OMIM:619472 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
| Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Wide nose, Papilledema, Depressed nasal bridge, Convex nasal ridge, Absent mall... |
OMIM:614188 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... |
ORPHA:1791 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, O... |
OMIM:259600 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Optic atrophy, Protruding ear, Low-set ears, Short nose, Failure to thrive |
OMIM:617988 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Low-set ears, Intrauterine growth retardation, Short nose, Failure to thrive |
OMIM:219200 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalem... |
ORPHA:3337 |
| Aarskog-Scott Syndrome |
|
Hypoplasia of the maxilla, Abnormal vertebral segmentation and fusion, Attention deficit hyperact... |
ORPHA:915 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... |
OMIM:614207 |
| Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Optic disc coloboma, Choanal stenosis, Low-se... |
ORPHA:1790 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, Recurrent otitis media, Short nose |
OMIM:605309 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Protruding ear |
OMIM:615539 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Dental maloccl... |
ORPHA:199306 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Optic atrophy, Growth delay, Keratoconjunctivitis sicca, Short nose, Macrotia |
OMIM:234050 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Short stature, Prominent nasal bridge, Failure to thrive in infancy, Growth ... |
ORPHA:1225 |
| H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Osteolysis |
ORPHA:168569 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Prominent nose, Postnatal growth retardation, Bulbous nose, Cupped ear, Depressed ... |
OMIM:156200 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose |
OMIM:618571 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Ataxia, Difficulty walking, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Dysmetria, Gait ataxia, Glu... |
OMIM:606721 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Coronal craniosynostosis, Micrognathia |
OMIM:241310 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Postnatal growth retardation, Macrotia, Optic atrophy, Uveit... |
ORPHA:90321 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairmen... |
OMIM:239300 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Disproportionate short-trunk ... |
OMIM:200600 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Micrognathia, Hyperlipidemia, Insulin resistance, Osteolysis, Osteolytic defects of t... |
ORPHA:90154 |
| Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... |
ORPHA:1652 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Hypoplasia of the maxilla, Kyphosis, Abnorm... |
ORPHA:192 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Obesity, Growth delay, Short nose, Failure to thrive, Hearing impairment |
ORPHA:96147 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Polydipsia, Mandibular pain |
ORPHA:99880 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| C Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Short stature, Wide nasal bridge, Low-set ears, Short... |
OMIM:211750 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Growth delay, Low-set ears, Intrauterine growth retardation, Short nose, Short n... |
ORPHA:2409 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Depressed nasal ridge, Obesity, Round ear, Conduct... |
ORPHA:870 |
| Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Aganglionic megacolon, Abnormality of the ear, Growth delay, Short nose, Failur... |
ORPHA:3339 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal form of the vertebral bodies |
ORPHA:93262 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Sen... |
ORPHA:79330 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short stature, Pos... |
OMIM:257300 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Distal Duplication 5Q |
|
Short stature, Prominent nasal bridge, Eczema, Low-set ears, Short nose, Macrotia |
ORPHA:96097 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Short stature, Asthma, Protruding ear, Keratoconjunctivitis sicca, Ery... |
OMIM:601675 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Apnea, Sensorineural hearing impairment, Optic atrophy, Respir... |
ORPHA:521426 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Short... |
OMIM:618454 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... |
ORPHA:90041 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Polydipsia, Mandibular pain |
ORPHA:143 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Oral-pharyngeal dysphagia, Hypomagnesemia, Rickets, Reduced bloo... |
OMIM:219800 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Overfolded helix, Macrotia, Short nose |
OMIM:617061 |
| Dend Syndrome |
|
Short nose, Anteverted nares, Thickened ears, Hypsarrhythmia |
ORPHA:79134 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Large for gestational age, Multifocal epileptiform disc... |
OMIM:615398 |
| Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Abnormal pinna morphology, Short stature, Aganglionic megacolon, P... |
ORPHA:3338 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, Osteoa... |
ORPHA:560 |
| Adenylosuccinase Deficiency |
|
Growth delay, Short nose, Anteverted nares, Low-set ears |
OMIM:103050 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Pleural effusion, Low-set ear... |
OMIM:617822 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Diabetes mellitus, ... |
ORPHA:79474 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short stature, Optic atrophy, Growth delay, Abnormal optic disc morphology, Low-set ears, Severe ... |
ORPHA:363417 |
| Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Wide nasal bridge, Pulmonary hypoplasia,... |
OMIM:145420 |
| Miller-Dieker Lissencephaly Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Intrauterine growth ... |
OMIM:247200 |
| Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Short nose, Macrotia, Optic atrophy |
OMIM:614222 |
| Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Large for gestational age, Cu... |
OMIM:614080 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, EEG abnormality, Short nose, Failure to thrive |
ORPHA:50810 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Restlessness, Hyperactivity, Aggressive behavior, Micrognathia, Hypoplasia... |
OMIM:300534 |
| Opsismodysplasia |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Posteriorly rotated e... |
OMIM:258480 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Osteo... |
ORPHA:189427 |
| Harel-Yoon Syndrome |
|
Short nose, Optic atrophy |
OMIM:617183 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Atresia of the external auditory c... |
ORPHA:93259 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla |
OMIM:618302 |
| 20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
ORPHA:261295 |
| Ogden Syndrome |
|
Microretrognathia, Abnormal head movements, Shuffling gait, Scoliosis, Lethargy |
ORPHA:276432 |
| Coffin-Siris Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Postnatal growth retardation, Recurren... |
ORPHA:1465 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Repeated pneumothoraces, Long nose, Intrauterine growth retardation, Short nose, F... |
OMIM:617602 |
| Marshall-Smith Syndrome |
|
Apnea, Choanal stenosis, Aspiration pneumonia, Recurrent aspiration pneumonia, Depressed nasal br... |
OMIM:602535 |
| Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Wide nose, Microtia, third degree, Posteriorly rotated ears, Ch... |
ORPHA:2753 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Wide nasal bridge, Intrauterine growth retardation, Short nose, Failure to thrive,... |
OMIM:618005 |
| Peho Syndrome |
|
Short nose, Optic atrophy, Hypsarrhythmia |
OMIM:260565 |
| Cockayne Syndrome B |
|
Slender nose, Severe short stature, Abnormal pinna morphology, Prominent nasal bridge, Abnormal a... |
OMIM:133540 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteri... |
ORPHA:536467 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Craniosynostosis, Kyphosis, Hyperlipidemia, Self-injurious behavior, Scoliosis |
ORPHA:254346 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Short stature, Anteverted nares, Sensorineural hearing impairment, Growth... |
ORPHA:2719 |
| Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
| Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short stature, Bulbous nose, ... |
OMIM:115150 |
| Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Postnatal growth r... |
OMIM:605627 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent skin infections, External ear malformation, Pneumoth... |
ORPHA:2953 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the maxilla, Macrodontia of... |
OMIM:216550 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, Knee o... |
OMIM:154780 |
| 3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Macrotia, Low-set ears, Pulmonary arterial hypertension, Short nose, Fail... |
ORPHA:65286 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Pneumothorax, Premature osteoarthritis |
OMIM:154700 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Depressed nasal b... |
OMIM:217980 |
| Cenani-Lenz Syndrome |
|
Short nose, Convex nasal ridge, Hearing impairment, Protruding ear |
ORPHA:3258 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal ala... |
OMIM:619005 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Postnatal growth retardation,... |
OMIM:301040 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614105 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Hearing impairment |
OMIM:166220 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla |
OMIM:618737 |
| Opsismodysplasia |
|
Recurrent respiratory infections, Severe short stature, Depressed nasal bridge, Respiratory insuf... |
ORPHA:2746 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Micrognathia, Hypoplasia of the maxilla, Low frustration tole... |
OMIM:309520 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Rhizomelia, Stillbirth, Low-... |
OMIM:228520 |
| Lathosterolosis |
|
Anteverted nares, Bulbous nose, Intrauterine growth retardation, Short nose, Failure to thrive, H... |
ORPHA:46059 |
| Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Short nose, Short stature, Wide nasal bridge |
OMIM:311300 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose, Optic atrophy, Optic nerve hypoplasia, Delayed puberty |
ORPHA:496790 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Posteriorly rotated ears, Growth delay, Microtia, Low-set ears, Short nos... |
OMIM:601353 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hypertriglyceridemia |
OMIM:617591 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short stature, Depressed nasal bridge, Microtia, Low-set ears, Short nose |
OMIM:616723 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
| Pearson Syndrome |
|
Diabetes mellitus, Ataxia, Steatorrhea, Dysphagia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp... |
ORPHA:699 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Sensorineural hearing impairmen... |
OMIM:616007 |
| Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Recurrent respiratory infections, Failure to thrive, Anteverted nares, Poste... |
OMIM:601358 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Micrognathia, Osteolytic defects of th... |
OMIM:619127 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short nose, Depressed nasal bridge |
ORPHA:93328 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Multiple suture craniosynostosis |
ORPHA:207 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Short nose, Depressed nasal bridge, Large for gestational age |
OMIM:616638 |
| Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... |
OMIM:201000 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares |
OMIM:619356 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Depressed nasal bridge, Abnormal pinna morpholo... |
OMIM:244450 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Apnea, Optic atrophy, Respiratory insufficiency, Low-set ears, Short no... |
OMIM:617527 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Sensorineural hearing impairment |
OMIM:614863 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short stature, Asthma,... |
ORPHA:280200 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Optic atrophy, Low-set ears, Short nose |
OMIM:618590 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Optic atrophy, Low-set ears, Sh... |
ORPHA:357001 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Low-set ears, Pulmona... |
OMIM:616894 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Failure to thrive, Depressed nasal bridge, Broad columella |
OMIM:617865 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Depressed nasal bridge, Pulmonary hypoplasia, Low-set ears, Short nose... |
ORPHA:90652 |
| Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impai... |
OMIM:157800 |
| Pallister-Hall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Short statur... |
OMIM:146510 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili... |
ORPHA:167 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypercholesterolemia, Aggressive behavior, Oral-pharyngeal dysphagia, Inabilit... |
ORPHA:273 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619418 |
| Cockayne Syndrome A |
|
Slender nose, Abnormal pinna morphology, Short stature, Abnormal auditory evoked potentials, Prom... |
OMIM:216400 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Proportionate short stature, Optic atrophy, Wide nasal bridge, Growth del... |
OMIM:613457 |
| Ayme-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Short stature, Sensorineural hear... |
OMIM:601088 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares... |
ORPHA:59315 |
| Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses |
OMIM:136760 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Oral-pharyngeal dysphagia |
ORPHA:99772 |
| Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose, Short stature |
ORPHA:1786 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia |
OMIM:616367 |
| Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears, Extrapulmonary sequestrum, Short nose |
OMIM:200995 |
| Mend Syndrome |
|
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Low-set ears, Abnorma... |
ORPHA:401973 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements |
OMIM:245348 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Short stature, Postnatal growth r... |
ORPHA:1272 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia |
ORPHA:158048 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Prominent nasal bridge, Postnatal growth retardation, Low-set ears, Short nose, Abnorm... |
ORPHA:251028 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopet... |
ORPHA:667 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Le... |
OMIM:229600 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the maxilla, Dysphagia, Scoliosis, Abnormal temper tantrums |
ORPHA:251061 |
| Stuve-Wiedemann Syndrome 1 |
|
Anteverted nares, Short stature, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insuff... |
OMIM:601559 |
| Wiedemann-Steiner Syndrome |
|
Rhizomelia, Short stature, Postnatal growth retardation, Wide nasal bridge, Low-set ears, Intraut... |
ORPHA:319182 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short stature, Failu... |
ORPHA:1340 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1540 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Optic atrophy, Low-se... |
OMIM:147791 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Short stature, Tra... |
ORPHA:444077 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Short stature, Large for gestational age, ... |
OMIM:213980 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase... |
ORPHA:98908 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Ataxia, Micrognathia, Hypoplasia of the maxilla, Self-injurious behavior |
ORPHA:314679 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Extern... |
ORPHA:2710 |
| Deeah Syndrome |
|
Neonatal respiratory distress, Short stature, Intrauterine growth retardation, EEG abnormality, L... |
OMIM:619004 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Tracheomalacia, Abnormal Eustachian tube morphology, Re... |
ORPHA:513456 |
| Ruvalcaba Syndrome |
|
Intrauterine growth retardation, Short nose, Convex nasal ridge, Delayed puberty |
ORPHA:3121 |
| Primrose Syndrome |
|
Restlessness, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Ag... |
OMIM:259050 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Progressive gait ataxia, Broad-based gait |
ORPHA:157946 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Short nose |
OMIM:266810 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... |
ORPHA:37553 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Uvei... |
OMIM:164200 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Prominent nasal bridge, Sensorineural hearing impairment, Short nose, ... |
OMIM:601812 |
| Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Anteverted nares, Rhizomelia, Pulmonary hypoplasia, Low-set ears, Short n... |
ORPHA:50945 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Short stature, Anteverted nares, Cachexia, Short nose, Macrotia, Hashimoto thyroiditis |
ORPHA:109 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:163649 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2662 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Proportionate short stature, ... |
OMIM:227330 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Severe short stature, Depressed nasal bridge, Anteverted nares, Choanal atr... |
OMIM:166250 |
| Ogden Syndrome |
|
Apnea, Protruding ear, Aspiration, Depressed nasal bridge, Short stature, Pulmonary artery stenos... |
OMIM:300855 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Wide nasal bridge, Microtia, Short columella, Low-set ears, Short nose |
OMIM:613603 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Scoliosis, Malar flatte... |
OMIM:601390 |
| Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Costal cartilage calcification, Patchy variation in bone... |
OMIM:215140 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Growth delay, Short nose, Low hanging... |
OMIM:615803 |
| Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short stature, Short nose |
ORPHA:1394 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Low-set ears, Recur... |
OMIM:619426 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
| Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Wide nasal bridge, Truncal obesity, Microtia, Recurre... |
ORPHA:529962 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Short stature, Pulmonary artery stenosis, Protruding ear, Growth delay, M... |
OMIM:301030 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Protruding ear, Abnormal antihelix morpholog... |
ORPHA:261318 |
| Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Facial palsy, Optic atrophy, Protruding ear, Growth del... |
OMIM:230740 |
| Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... |
OMIM:123500 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Short stature, Cachex... |
ORPHA:828 |
| Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Retrognathia, Kyphoscoliosis, Micrognathia |
OMIM:608149 |
| Aromatase Deficiency |
|
Osteopenia, Delayed epiphyseal ossification, Insulin resistance, Osteoporosis, Hyperlipidemia, Ty... |
ORPHA:91 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Osteolysis, Osteolytic defects of the distal phalanges of the... |
ORPHA:90153 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Apnea |
ORPHA:1129 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Wide nasal bridge, Pulmonary hypoplasia, Low-set ears, Pleural effusion, Sh... |
OMIM:620369 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... |
ORPHA:79102 |
| Mietens Syndrome |
|
Wide nose, Severe short stature, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Papilledema, Short stature, Decreased nerve conduction velocity, Sensori... |
ORPHA:580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Posteriorly rotated ears, Short stature, Broad nasal tip, Small for gesta... |
OMIM:309590 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Di... |
OMIM:272460 |
| Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Overfolded... |
OMIM:608156 |
| Acrocallosal Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Postnatal growth retardation, Optic atrophy,... |
OMIM:200990 |
| 1P21.3 Microdeletion Syndrome |
|
Short nose, Obesity, Long ear, Broad nasal tip |
ORPHA:293948 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Hypoplas... |
OMIM:257850 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Myocarditis, Cardiorespiratory arrest, ... |
ORPHA:3342 |
| Atelosteogenesis, Type I |
|
Rhizomelia, Depressed nasal bridge, Stillbirth, Disproportionate short-limb short stature, Low-se... |
OMIM:108720 |
| Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... |
OMIM:616580 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Scoliosis, Malar flatte... |
OMIM:615546 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Short stature, Choanal atresia, Cachexia, Growth delay, Pointe... |
ORPHA:3380 |
| Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Kyphosis, Scoliosis, Micrognathia |
OMIM:615108 |
| Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia, Fasting hypoglycemia |
OMIM:232200 |
| Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Disproportionate short-limb short stature |
OMIM:269250 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... |
OMIM:618332 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Rhizomelia, Underdeveloped nasal alae,... |
ORPHA:79328 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Sh... |
ORPHA:177907 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Trac... |
OMIM:613458 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the verte... |
ORPHA:2462 |
| Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Short stature, Sensorineural hearing impairment, Thick nasal septum,... |
OMIM:303600 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Papilledema, Short stature, Sensorineural hearing impairment, Recurrent ... |
ORPHA:217085 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Depressed nasal bridge, Low-set ears |
ORPHA:1812 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Fontaine Progeroid Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Short stature, Small for gestational age, Pneum... |
OMIM:612289 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hemivertebrae, Butterfly vertebral arch |
OMIM:118450 |
| Khan-Khan-Katsanis Syndrome |
|
Short stature, Sensorineural hearing impairment, Intrauterine growth retardation, Short nose, Fai... |
OMIM:618460 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| 8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Craniosynostosis |
ORPHA:178303 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Papilledema, Short stature, Sensorineural hearing impairment, Recurrent ... |
ORPHA:217093 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Postnatal growth retar... |
OMIM:269150 |
| Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Depressed nasal bridge, Ante... |
ORPHA:1507 |
| Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Kyphosis, Scoliosis, Micrognathia |
OMIM:615109 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, Protruding ear, Thickened helices, Depressed nasal bridge, Anteverted... |
OMIM:613406 |
| Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Micrognathia, Hypoplastic facial bo... |
OMIM:264090 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Partial anomalous pulmo... |
OMIM:301044 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Facial palsy, Short stature, Growth delay, Short nose |
ORPHA:1358 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Anteverted nares, Short stat... |
ORPHA:2308 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Depressed nasal bridge, Short stature, Optic atrophy, Wide nasal bridge... |
OMIM:617140 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Natal tooth, Hypertriglyceridemia, Ataxia, Irregular sclerotic endplates, Kyphoscolio... |
ORPHA:3455 |
| Saethre-Chotzen Syndrome |
|
Craniosynostosis, Hyperlordosis, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies... |
ORPHA:794 |
| Sotos Syndrome |
|
Aganglionic megacolon, Small cell lung carcinoma, Pulmonary bleb, Conductive hearing impairment, ... |
ORPHA:821 |
| Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Lumbar hyperlordosis, Scoliosis, Thin bony cortex |
OMIM:277600 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Short stature, Abnormality of the ear, Disproportionate short-trunk short... |
ORPHA:457395 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Short stature, Overfolded hel... |
ORPHA:1974 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Coronal craniosynostosis |
OMIM:101600 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Scoli... |
OMIM:182212 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Posteriorly rotated ears, Short stature, Broa... |
OMIM:615873 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short stature, Optic... |
ORPHA:536471 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Short stature, Low-set ears... |
OMIM:609942 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Underfolded helix, Short stature, Small for gestational age, Overfolded h... |
OMIM:268400 |
| Martsolf Syndrome 1 |
|
Hypoplasia of the maxilla, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia |
OMIM:212720 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anteverted nares, Overfolded helix, Large fleshy ears, Microtia, Prominent tragus, Blepharitis, P... |
ORPHA:280633 |
| Robinow Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bro... |
ORPHA:97360 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Degcags Syndrome |
|
Failure to thrive, Anteverted nares, Prominent nasal bridge, Hearing impairment, Prominent nose, ... |
OMIM:619488 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, Prom... |
ORPHA:522077 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Failure to thrive, Osteomyelitis, Anteverted nares, Overweight, Bulbous nose, Cupped ear, Wide na... |
OMIM:619475 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
OMIM:167730 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla |
ORPHA:228396 |
| Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Type I diabetes mellitus |
ORPHA:3044 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Low-set ears |
ORPHA:457279 |
| Dyskeratosis Congenita |
|
Diabetes mellitus, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Taurodontia, Scoliosis... |
ORPHA:1775 |
| Bartsocas-Papas Syndrome |
|
Short nose, Underdeveloped nasal alae |
ORPHA:1234 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Bulbous nose, Abnormal earlob... |
ORPHA:95699 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Anteverted nares, Small for gestational age, Broad nasal tip, ... |
ORPHA:363611 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Hyperlipidemia, Abnormal primary molar morphology, ... |
ORPHA:1830 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Eczema, Optic disc colo... |
OMIM:617157 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:245 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Scoliosis, Agenesis of central incisor, Malar flattening |
OMIM:252100 |
| Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Kyphosis, Scoliosis, Micrognathia |
OMIM:158350 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Disproportionate short stature... |
ORPHA:508533 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Hypoplasia of the zygomatic bone, Scoliosis |
ORPHA:193 |
| Lathosterolosis |
|
Anteverted nares, Wide nasal bridge, Growth delay, Conductive hearing impairment, Short nose |
OMIM:607330 |
| Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Pneumothorax, Atresia of the external audito... |
OMIM:618175 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... |
OMIM:256040 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia |
ORPHA:1307 |
| Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormal antihelix morphology, Anotia,... |
ORPHA:261112 |
| Autosomal Dominant Robinow Syndrome |
|
Wide nose, Severe short stature, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ea... |
ORPHA:3107 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Hyperglycemia, Self-... |
ORPHA:293987 |
| Branchiooculofacial Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Facial palsy, Broad nasal tip, Postnatal growth... |
OMIM:113620 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Coronal craniosynostosis |
ORPHA:2095 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuricemia |
OMIM:232220 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Prominent nasal bridge, Small for gestational age, Broad nasal tip, Underdeveloped... |
ORPHA:268261 |
| Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive, Depressed nasal bridge, Anteverted nares, C... |
ORPHA:199 |
| Monosomy 9Q22.3 |
|
Short nose, Thickened ears, Low-set ears, Large for gestational age |
ORPHA:77301 |
| Holoprosencephaly 7 |
|
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... |
OMIM:610828 |
| Geleophysic Dysplasia 1 |
|
Thickened helices, Short nose, Anteverted nares, Short stature |
OMIM:231050 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Delayed eruption of permanent teeth |
OMIM:620370 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Depressed nasal bridge, Rhizomelia, Anteverted nares, Bulbous nose, Laryngotracheomalacia, Dispro... |
OMIM:271510 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla |
OMIM:619142 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short stature, Rhizo... |
ORPHA:709 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Optic atrophy, Stridor, Conjunctivitis, P... |
ORPHA:505248 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Short stature, Small for gestational age, Postn... |
OMIM:613355 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Abnormal vertebral morphology, Craniosynostosis |
OMIM:265050 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Posteriorly rotated ears, Recurrent skin infections, Pneumothorax, Protruding ear, Short columell... |
OMIM:601776 |
| Ring Chromosome 7 Syndrome |
|
Small earlobe, Anteverted nares, Prominent nasal bridge, Short stature, Prominent crus of helix, ... |
ORPHA:1449 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:601499 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Short nose, Disproportionate short stature, Protruding ear |
ORPHA:2879 |
| Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the zyg... |
ORPHA:861 |
| Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Cupped ear, Wide nasal bridge, Total anomalous pulmonary venous return, Overfolded helix, Short n... |
OMIM:609945 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short stature, Wide nasal bri... |
OMIM:268310 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short nose, Failure to thrive |
ORPHA:476126 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Lumbar hyperlordosis, Scoliosis, Thin bony cortex |
OMIM:608328 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... |
OMIM:619381 |
| Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Short nose, Short stature, Respiratory insufficiency |
OMIM:614185 |
| Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Absent sternal ossification, Micrognathia |
OMIM:613803 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Growth delay, Short nose, Neonatal death |
OMIM:252160 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia |
OMIM:616462 |
| Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Severe po... |
ORPHA:2729 |
| Rapp-Hodgkin Syndrome |
|
Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth |
OMIM:129400 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Platyspondyly, Hypoplasia of the maxilla |
ORPHA:2588 |
| Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:782 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Eczema, Broad nasal tip, Asthma, Recurrent pneu... |
OMIM:620330 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla |
OMIM:106260 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Short stature, Failu... |
ORPHA:1308 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Anteverted nares, Posteriorly rotated ears, Short stature, Broad nasal tip, Long n... |
OMIM:619522 |
| Bartsocas-Papas Syndrome 1 |
|
Underdeveloped nasal alae, Cupped ear, Microtia, Low-set ears, Intrauterine growth retardation, S... |
OMIM:263650 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Choreoathetosis |
ORPHA:3464 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short ... |
OMIM:305100 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscolios... |
ORPHA:1299 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:304050 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Intrauterine growth reta... |
OMIM:619321 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Impulsivity, Micrognathia, Hypoplasia of the maxilla, Unsteady gait, Talon cusp, D... |
OMIM:180849 |
| Floating-Harbor Syndrome |
|
Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Kyphoscoliosis, Hypoplasia of t... |
ORPHA:2044 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Butterfly vertebrae, Scoliosis |
ORPHA:50 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Aspartylglucosaminuria |
|
Recurrent respiratory infections, Wide nasal bridge, Arthritis, Microtia, Chronic otitis media, S... |
ORPHA:93 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... |
OMIM:211380 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:2399 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis |
ORPHA:1101 |
| Sponastrime Dysplasia |
|
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Rhizomelia, Small... |
ORPHA:93357 |
| Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1519 |
| Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:613805 |
| Penile Agenesis |
|
Posteriorly rotated ears, Depressed nasal bridge, Bilateral lung agenesis, Pulmonary hypoplasia, ... |
ORPHA:49 |
| Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Ataxia, Hypoplasia of the maxilla, Enlarged vertebral pe... |
OMIM:139210 |
| Van Den Ende-Gupta Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Craniosynostosis, Micrognathia |
OMIM:600920 |
| Omodysplasia 1 |
|
Rhizomelia, Depressed nasal bridge, Pulmonary artery stenosis, Wide nasal bridge, Disproportionat... |
OMIM:258315 |
| Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Short stature, Large for ge... |
ORPHA:672 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated... |
OMIM:619534 |
| Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Mandibular aplasia, Retrognathia |
ORPHA:2554 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Protruding ear, Low-set ears, Short nose, Abnormality of the outer ear |
OMIM:618820 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short stature, Rhizomelia, Wi... |
OMIM:180700 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Failure to thrive, Neonatal respiratory distress, Depressed nasal bri... |
OMIM:619503 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Short nose |
OMIM:252150 |
| Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Failure to thrive in in... |
OMIM:194050 |
| Alström Syndrome |
|
Thoracic scoliosis, Hypertriglyceridemia, Ataxia, Abnormality of dental color, Kyphosis, Hyperlip... |
ORPHA:64 |
| Acromesomelic Dysplasia 1 |
|
Short nose, Disproportionate short stature |
OMIM:602875 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Recurrent pneumonia, Depressed nasal ridge, Restrictive ventilatory defec... |
OMIM:271665 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... |
OMIM:209885 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Waddling gait, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Osteolytic def... |
OMIM:182250 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Ep... |
ORPHA:96334 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Anterior wedging of T12... |
OMIM:300106 |
| Femoral-Facial Syndrome |
|
Short stature, Abnormal pinna morphology, Underdeveloped nasal alae, Low-set ears, Short nose |
OMIM:134780 |
| Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Sinusitis |
ORPHA:238468 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Abnormal helix morphology... |
ORPHA:373 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Abnormal form of the vertebral bodies, M... |
ORPHA:1106 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Abnormal lung lobation, ... |
OMIM:312870 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
| Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla |
OMIM:609460 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232240 |
| Williams Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Short stature, Failure to th... |
ORPHA:904 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion... |
OMIM:610829 |
| Frontofacionasal Dysplasia |
|
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae |
OMIM:229400 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla |
ORPHA:96129 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Kyphoscoliosis |
OMIM:617402 |
| Pallister-Killian Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mesomelic/rhizomelic limb sho... |
OMIM:601803 |
| Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Large for gestational age, Abnormal earlobe morphology, Obesity, Anterior creases o... |
ORPHA:116 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft of chin, Lambdoidal craniosynostosis, Malar flattening, Coronal ... |
OMIM:101400 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone |
ORPHA:920 |
| Peters-Plus Syndrome |
|
Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Agenesis of maxillary l... |
OMIM:261540 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplasia of the maxilla, Malar flattening, Carious teeth |
OMIM:604292 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of the frontal bone |
ORPHA:306542 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Malar flattening, Carious teeth |
OMIM:129900 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Scoliosis, Malar flatten... |
OMIM:164210 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla |
OMIM:180500 |
| Holoprosencephaly 2 |
|
Malar flattening, Aplasia of the premaxilla, Scoliosis |
OMIM:157170 |
