| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| X-Linked Intellectual Disability, Stoll Type |
|
Hypoplastic nasal bridge, Broad nasal tip, Long philtrum, Anteverted nares, Malar flattening, Hyp... |
ORPHA:85326 |
| Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Developmental cataract, Impaired glucos... |
OMIM:147630 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Diabetes Insipidus, Neurohypophyseal |
|
Long philtrum, Decreased circulating osteocalcin level, Central diabetes insipidus, Hypertelorism... |
OMIM:125700 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Obesity, Thick vermilion border,... |
ORPHA:1193 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Inability to walk, Thin upper lip vermilion, Smooth philtr... |
ORPHA:438178 |
| Filippi Syndrome |
|
Wide nasal bridge, Proptosis, Underdeveloped nasal alae, Postnatal growth retardation, Intrauteri... |
OMIM:272440 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... |
ORPHA:1200 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the dentition, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening... |
ORPHA:217340 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short stature, Cleft palate, Short nose |
ORPHA:2015 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short sta... |
ORPHA:1355 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Proptosis, Retrognathia, Intrauterine growth retardation, Anteverted nares... |
ORPHA:1832 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Elevated circulating parath... |
OMIM:122860 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Everted lower lip vermilion, Convex nasal ridge, Hypertelor... |
ORPHA:1695 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Broad nasal tip, Inflexible adherence to routines, Aggressive behavior, ... |
OMIM:613670 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Hypertelorism, ... |
ORPHA:2007 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Liang-Wang Syndrome |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... |
OMIM:618729 |
| 14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Deepl... |
ORPHA:261120 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone... |
OMIM:613038 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Prominent nose, Micrognathia, In... |
OMIM:613684 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Deeply set eye, Thin upper lip vermilion, Gait disturbance, Everted lower ... |
ORPHA:2429 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Micrognathia,... |
OMIM:613604 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Perlman Syndrome |
|
Wide nasal bridge, High, narrow palate, Retrognathia, Tall stature, Anteverted nares, Hyperinsuli... |
ORPHA:2849 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Obesity, Short nose, High palate |
OMIM:300577 |
| Weiss-Kruszka Syndrome |
|
Decreased response to growth hormone stimulation test, Exaggerated cupid's bow, Prominent nasal t... |
ORPHA:502430 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Broad nasal tip, Fatigable weakness of skeletal muscles, Narrow nasal bridge... |
ORPHA:166108 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Long philtrum, Thick vermilion border, Deeply set eye, Ataxia, Short nose |
ORPHA:833 |
| Pierpont Syndrome |
|
Broad nasal tip, Failure to thrive, Widely spaced teeth, Thin vermilion border, Malar flattening,... |
OMIM:602342 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Intrauterine growth retardation, Narrow mouth, Thin vermilion border, Short stature, S... |
ORPHA:2370 |
| Clark-Baraitser syndrome |
|
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Tall stature, Antev... |
OMIM:300602 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Obesity, Ex... |
OMIM:617752 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Long philtrum, Prominent nasal bridge, Micrognathia, Hypotelorism, Thin upper li... |
OMIM:613544 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Intrauterine growth retardation, Micrognathia, Narrow mouth, Death in infancy, Abnormal palate mo... |
ORPHA:1495 |
| Diamond-Blackfan Anemia 8 |
|
Wide nasal bridge, Thick upper lip vermilion, Hypertelorism, Short stature, Growth delay, Short nose |
OMIM:612563 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... |
OMIM:137550 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Agitation, Deeply set eye, Aggressive behavior, Hyperac... |
OMIM:300558 |
| 17P13.3 Microduplication Syndrome |
|
Tall stature, Narrow mouth, Hypertelorism, High palate, Short nose, Wide nose |
ORPHA:217385 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Choanal atresia, Optic atrophy, Proptosis, Myelomeningocele, Anteverted n... |
ORPHA:1914 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Narrow mouth, Thin vermilion border, Hypertelorism, Short stature, Incisor macrodo... |
OMIM:615502 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... |
ORPHA:1248 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Microdontia, Thin ... |
OMIM:619736 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Intellectual Disability And Myopathy Syndrome |
|
Broad nasal tip, Dental malocclusion, Hypotelorism, Thin upper lip vermilion, Incisor macrodontia... |
OMIM:619719 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... |
ORPHA:2025 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose |
ORPHA:46 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Downturned corners of mouth, Inability to walk, Anteverted nares, Deeply ... |
OMIM:613443 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Restlessness, Short nose |
OMIM:618379 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose |
OMIM:155050 |
| Developmental And Epileptic Encephalopathy 66 |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Broad-based gait, Downturn... |
OMIM:618067 |
| Tetrasomy 12P |
|
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... |
ORPHA:1529 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Broad nasal tip, Inability to walk, Tented upper lip vermilion, Thin upper lip... |
OMIM:615716 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
| Chung-Jansen Syndrome |
|
Long philtrum, Obesity, Anteverted nares, Micrognathia, Deeply set eye, Short philtrum, Hypertelo... |
OMIM:617991 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short stature, Small for gestational age, Short nose |
OMIM:245570 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Micrognathia, Narrow mouth, Decreased body weight, Short nose, Wide nose, Downt... |
ORPHA:391408 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Thick lower lip vermilion, Anteverted nares, Thin vermilion border, Abnormal palat... |
ORPHA:2701 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:363417 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Proptosis, Downturned corners of... |
ORPHA:2409 |
| Baker-Gordon Syndrome |
|
Inability to walk, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Ataxia, Choreo... |
OMIM:618218 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Intrauterine growth retardation, Neonatal death, Death in adolescence, ... |
OMIM:619751 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Abnormal palate morphology |
ORPHA:1450 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Periventricular Nodular Heterotopia 7 |
|
Ataxia, Microretrognathia, Proptosis, Failure to thrive, Dental crowding, Anteverted nares, Micro... |
OMIM:617201 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Reduced circulating growth hormone ... |
OMIM:616430 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... |
ORPHA:1906 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Proptosis, Long philtrum, Anteverted nares, Micrognathia, Hypertelorism, Broad... |
OMIM:618577 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Abnormal upper lip morphology, Ataxia, Growth delay, Short nose |
ORPHA:531 |
| Foxp1 Syndrome |
|
Recurrent upper respiratory tract infections, Broad nasal tip, Mandibular prognathia, Failure to ... |
ORPHA:391372 |
| Acromicric Dysplasia |
|
Severe short stature, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, N... |
ORPHA:969 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Short stature, Short nose |
ORPHA:1389 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agitation, Agangli... |
OMIM:613870 |
| Odontochondrodysplasia |
|
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Death... |
ORPHA:166272 |
| Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Micrognathia, Malar flattening, Convex nasal ridge, Hyperteloris... |
ORPHA:2145 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Smith-Magenis Syndrome |
|
Micrognathia, Open mouth, Deeply set eye, Delayed eruption of primary teeth, Hypertelorism, Short... |
ORPHA:819 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia, Pulmonary arterial hypertension, Hypertelorism, Short stature, O... |
OMIM:300887 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Hemochromatosis, Type 4 |
|
Cataract, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:606069 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Narrow palate, Proptosis, Retrognathia, Long philtrum, Obesity, Micrognathia, ... |
OMIM:620250 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, Micrognathia, Delayed puberty, High palate, Short nose |
ORPHA:2598 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na... |
OMIM:614069 |
| Ohdo Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... |
OMIM:249620 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Mandibular prognathia, Intrauterine growth retardation, Anteverted nares,... |
OMIM:614613 |
| Aarskog-Scott Syndrome |
|
Wide nasal bridge, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla, Fai... |
OMIM:305400 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Elevated circulating parathyroid hormone level... |
ORPHA:439822 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Microform Holoprosencephaly |
|
Choanal atresia, Panhypopituitarism, Intrauterine growth retardation, Narrow nasal bridge, Anteve... |
ORPHA:280200 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Hypoglycemia |
ORPHA:67048 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Protruding tongue, Mal... |
OMIM:242860 |
| Developmental And Epileptic Encephalopathy 75 |
|
Wide nasal bridge, Optic atrophy, Proptosis, Cardiomyopathy, Anteverted nares, Hypertelorism, Opt... |
OMIM:618437 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Dental crowding, Tented upper lip vermilion, Open mouth, Hypertelorism, Mandibular prognathia, Sh... |
OMIM:300143 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Broad-based gait, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares... |
ORPHA:438216 |
| Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Long philtrum, Micrognathia, Malar flattening, Hypertelorism,... |
ORPHA:93328 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... |
OMIM:619859 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion b... |
OMIM:618506 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity, Postnatal growth retardation, Intrauter... |
OMIM:615419 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Proptosis, Long philtrum, Antev... |
OMIM:618529 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Micrognathia, Hypotelorism, Death in infancy, Thin upper lip vermilion, High palate, Short nose |
OMIM:615042 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Short nose, Hypertelorism |
ORPHA:221054 |
| Cebalid Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Congenital diaphragmatic hernia,... |
OMIM:618774 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Attention deficit hyperactivity disorder, Multiple lipomas, Hypertelorism... |
ORPHA:210548 |
| Trisomy 12P |
|
Wide nasal bridge, Proptosis, Downturned corners of mouth, Micrognathia, Malar flattening, Everte... |
ORPHA:1699 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Wide nasal bridge, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Diff... |
OMIM:618571 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Wide nasal bridge, Bulbous nose, Aggressive behavior, Attention deficit hyperactivity disorder, H... |
OMIM:620292 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Abnormality of the dentition, Proptosis, Dental malocclusion, Long philtr... |
OMIM:616331 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Deeply set eye, Motor stereotypy, Short nose, Optic nerve hypoplasia |
ORPHA:228384 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Wide nasal bridge, Depressed nasal bridge, Ataxia, Mandibular prognathia, Downturned corners of m... |
ORPHA:369891 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Decreased response ... |
OMIM:615866 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Long philtrum, Anteverted nares, Short columella, Obesity, Micrognathia, ... |
ORPHA:171839 |
| Absent Eyebrows And Eyelashes With Impaired Intellectual Development |
|
Encephalocele, Convex nasal ridge, Short nose |
OMIM:200130 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion... |
ORPHA:364028 |
| Al-Raqad Syndrome |
|
Inability to walk, Gait ataxia, Narrow mouth, Deeply set eye, Thin upper lip vermilion, Short nose |
OMIM:616459 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Microglossia, Micrognathia, Death in infancy, Median cleft upper lip, Sho... |
OMIM:241800 |
| Bainbridge-Ropers Syndrome |
|
Micrognathia, Deeply set eye, Everted lower lip vermilion, Hypertelorism, High palate, Short nose... |
OMIM:615485 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Open bite, Intrauterine... |
ORPHA:1327 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Short stature, Short ... |
ORPHA:2835 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Baraitser-Winter Syndrome 1 |
|
Wide nasal bridge, Failure to thrive, Long philtrum, Retrognathia, Cleft upper lip, Postnatal gro... |
OMIM:243310 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Failure to thrive, Underdeveloped nasal alae, Cleft mandible... |
ORPHA:364577 |
| Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Bradycardia, Camptod... |
OMIM:610015 |
| Marshall Syndrome |
|
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... |
OMIM:154780 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Proptosis, Micrognathia, Narrow mouth, Short stature, Cleft palate, Short nose |
OMIM:614078 |
| Peho-Like Syndrome |
|
Open mouth, Retrognathia, Short nose |
OMIM:617507 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Tricuspid regurgitation, Bulbous nose, Anteverted nares, Intrauterine gr... |
ORPHA:261211 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Long philtrum, Beta-alaninuria, Bulbous nose, Anteverted nares, Tented up... |
OMIM:614105 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Proptosis, Anteverted nares, Death in childhood, Hypertelorism, Short nose |
OMIM:618961 |
| Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Anteverted nares, Thin vermilion border, M... |
OMIM:601853 |
| Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Failure to thrive, Decreased response to gr... |
ORPHA:363528 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Downturned corners of mouth, Tall stature, Bulbous nose, Obesity, Open mo... |
OMIM:618430 |
| Harel-Yoon Syndrome |
|
Inability to walk, Micrognathia, Deeply set eye, Ataxia, Mandibular prognathia, Short nose |
OMIM:617183 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short stature, Short nose |
OMIM:302950 |
| Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Short philtrum, Short ... |
OMIM:601224 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delaye... |
OMIM:619356 |
| Nance-Horan Syndrome |
|
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... |
OMIM:302350 |
| Frontofacionasal Dysplasia |
|
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Non-midline clef... |
ORPHA:1791 |
| Otodental Syndrome |
|
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... |
ORPHA:2791 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Narrow nasal bridge, Micrognathia, Short nose |
ORPHA:1514 |
| Marshall Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... |
ORPHA:560 |
| Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Natal tooth, Dental crowding, Long philtrum, Anteverte... |
OMIM:145420 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Intrauterine growth retardation, Short nose, Hypertelorism |
OMIM:616910 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... |
OMIM:614744 |
| Verheij Syndrome |
|
Wide nasal bridge, Broad nasal tip, Retrognathia, Long philtrum, Intrauterine growth retardation,... |
OMIM:615583 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Micrognathia, Death in infanc... |
ORPHA:163966 |
| Raine Syndrome |
|
Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Hypertelorism, High p... |
OMIM:259775 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Broad-based gait, Broad columella, Failure to thrive, Downturned corners ... |
OMIM:617865 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis, Dental crowding, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Death in early... |
OMIM:608612 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Microdontia, Deep philtrum, Talon cusp, Hypertelorism, Cleft palate |
OMIM:605282 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Short nose |
OMIM:300581 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Self-injurious behavior, Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Deeply set... |
OMIM:618828 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Inability to walk, Dysmetria, Deeply set eye, Ataxia, Hypertelorism, Short... |
OMIM:618087 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Wide nasal bridge, Carious teeth, Failure to thrive, Underdeveloped nasal alae, Retrognathia, Pos... |
OMIM:613026 |
| Achondrogenesis Type 1B |
|
Severe short stature, Disproportionate short stature, Long philtrum, Anteverted nares, Micrognath... |
ORPHA:93298 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Trigonocephaly 1 |
|
Wide nasal bridge, High, narrow palate, Long philtrum, Hypotelorism, Short nose |
OMIM:190440 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Failure to thrive, Underdeveloped nasal alae, Delayed eruption of t... |
ORPHA:2315 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Notched primary central incisor |
OMIM:620062 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Postnatal growth retardation, Anteverted nares, Death in childhood, Death... |
OMIM:613320 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Distal Duplication 18Q |
|
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri... |
ORPHA:1716 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Long philtrum, Prominent nasal bridge, Thin upper lip vermilion, Smooth philtr... |
ORPHA:401935 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Codas Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... |
ORPHA:1458 |
| Desbuquois Dysplasia 1 |
|
Severe short stature, Depressed nasal bridge, Microretrognathia, Disproportionate short-limb shor... |
OMIM:251450 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Proptosis, Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele... |
ORPHA:2143 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Wide nasal bridge, Broad columella, Long philtrum, Inability to walk, Narrow nasal bridge, Anteve... |
OMIM:619383 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Depressed nasal bridge, Failure to thrive, Intrauterine growth retardation, Micrognathia,... |
OMIM:619833 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Micrognathia, Gait ataxia, Deeply set eye, Delayed puberty, Spastic gait, Mandibular prognathia, ... |
ORPHA:496790 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Proptosis, Long philtrum, Short nose, Cleft palate |
ORPHA:90653 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Long philtrum, Micrognathia, Hypotelorism, Everted lower lip vermil... |
ORPHA:1702 |
| Achondrogenesis |
|
Severe short stature, Long philtrum, Anteverted nares, Micrognathia, Short nose |
ORPHA:932 |
| Dermotrichic Syndrome |
|
Aminoaciduria, Depressed nasal bridge, Short nose, Proportionate short stature |
ORPHA:99688 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia, Convex nasal ridge |
OMIM:614564 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Intrauterine growth retardation, Wide mouth, Everted lower lip vermilion, ... |
ORPHA:1912 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Depressed nasal ridge, Mandibular prognathia, Downturned corners of mouth, Retrognathia, ... |
OMIM:156200 |
| Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Lobulated to... |
OMIM:252100 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Hydrocephalus, Hypertelorism, Dysphagia, Short nose |
ORPHA:163961 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Tetrasomy 5P |
|
Wide nasal bridge, Congestive heart failure, Postnatal growth retardation, Anteverted nares, Peri... |
ORPHA:3309 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Disproportionate short-limb short stature, Short nose, Elevated circulating parathyroid hormone l... |
OMIM:618618 |
| Edinburgh Malformation Syndrome |
|
Choanal atresia, Failure to thrive, Downturned corners of mouth, Anteverted nares, Micrognathia, ... |
ORPHA:1895 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Long philtrum, Large for gestational age, Open mouth, Thin up... |
OMIM:616638 |
| Acrodysostosis |
|
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela... |
ORPHA:950 |
| Even-Plus Syndrome |
|
Severe short stature, Depressed nasal ridge, Bifid nasal tip, Hypodontia, High palate, Short nose |
OMIM:616854 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Failure to thrive, Hypertelorism, Short stature, Cleft palate, Small f... |
OMIM:614261 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Gingival over... |
OMIM:235510 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Premature Aging Syndrome, Okamoto Type |
|
Cataract, Diabetes mellitus |
OMIM:601811 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Proptosis, Anteverted nares, Short stature, Spina bifida occulta, Short nose |
ORPHA:1185 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Bulbous nose, Deeply set eye, Aggressive behavior, Atten... |
ORPHA:284169 |
| Marshall-Smith Syndrome |
|
Choanal atresia, Proptosis, Failure to thrive, Retrognathia, Anteverted nares, Gingival overgrowt... |
ORPHA:561 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:218000 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Failure to thrive, Long philtrum, Inability to walk, Bulbous nose, Anteverted nares, Malar flatte... |
OMIM:616420 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Arthrogryposis, Distal, Type 2A |
|
Wide nasal bridge, Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder f... |
OMIM:193700 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Anteverted nares, Thin vermilion ... |
OMIM:614701 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Prominent nose, Anteverted nares, Exagg... |
OMIM:618316 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Malan Syndrome |
|
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Overgrowth, Advan... |
OMIM:614753 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Hypoplasia of the zygomatic bone, Thin upper lip vermilion, Hypogonadotropic hypogonadis... |
ORPHA:1295 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Rhizomelia, Mandibular prognathia, Short nose, Wide nose |
ORPHA:2831 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thick lower lip vermilion, Anteverted nares, Obesity, Tented upper lip vermilion, Thin upper lip ... |
OMIM:619854 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Dental crowding, Failure to thrive, Downturned corners of mouth, Narrow nose, Intr... |
OMIM:617602 |
| Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Micrognathia, Deeply set eye, Everted lower lip vermilion, Anterior pituitary hypo... |
ORPHA:177907 |
| Tetrasomy 18P |
|
Long philtrum, Narrow mouth, Gait disturbance, Thin vermilion border, Short nose |
ORPHA:3307 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Failure to thrive, Long philtrum, Prominent nasal bridge, Gingival overgrowth,... |
OMIM:619179 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Bulbous ... |
OMIM:617061 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Micrognathia, Anteverted nares, Microdontia, Thin upper lip verm... |
ORPHA:1915 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Elevated circulating thyroid-stimul... |
OMIM:613457 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Achondrogenesis Type 1A |
|
Severe short stature, Long philtrum, Anteverted nares, Micrognathia, Short nose |
ORPHA:93299 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel mo... |
ORPHA:1812 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Long philtrum, Mi... |
OMIM:604173 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Proptosis, Failure to thrive, Micrognathia, Hypertelorism, Concave nasal ... |
OMIM:170100 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| 3C Syndrome |
|
Aortic valve stenosis, Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Postnatal growth... |
ORPHA:7 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Bulbou... |
OMIM:614114 |
| Aniridia 1 |
|
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ectopia pupillae, Hypoplasia of the... |
OMIM:106210 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Long philtrum, Anteverted nares, Micrognathia, Short stature,... |
ORPHA:93329 |
| Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Everted upper lip vermilion, Retrognathia, Intrauterine growth retardatio... |
OMIM:608013 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Underdeveloped nasal alae, Bulimia, Postnatal growth retardation, Antever... |
OMIM:300912 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Long philtrum, Anteverted nares, Anterior open-bite malocclusion, Thin upper lip... |
OMIM:617877 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Atrophic scars, Inguinal hernia, Mitral regurgitation, Hypertelorism, Camptodactyly, Short nose |
OMIM:615539 |
| Orofaciodigital Syndrome Type 2 |
|
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Tongue nodules, Peg-shaped maxillar... |
ORPHA:2751 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Pfeiffer Syndrome |
|
Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Dental crowding, Choanal sten... |
OMIM:101600 |
| Distal Duplication 5Q |
|
Carious teeth, Long philtrum, Prominent nasal bridge, Micrognathia, Narrow mouth, Thin vermilion ... |
ORPHA:96097 |
| Premature Aging Syndrome, Penttinen Type |
|
Hypoplasia of the maxilla, Proptosis, Failure to thrive, Elevated circulating thyroid-stimulating... |
OMIM:601812 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the dentition, Broad-based gait, Dental malocclusion, Dental crowding, Long philtr... |
ORPHA:251028 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Broad nasal tip, Carious teeth, Failure to thrive, Long philtrum, Postnatal growth retardation, I... |
ORPHA:357074 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathi... |
ORPHA:163649 |
| Femoral-Facial Syndrome |
|
Long philtrum, Micrognathia, Thin upper lip vermilion, Orofacial cleft, Maternal diabetes, Short ... |
ORPHA:1988 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Broad nasal tip, Inability to walk, Wide mouth, Tented upper lip vermilion, Hy... |
OMIM:614207 |
| 16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Failure to thrive, Long philtrum, Retrognathia, Decreased response to growth... |
ORPHA:485405 |
| Baller-Gerold Syndrome |
|
Proptosis, Failure to thrive in infancy, Intrauterine growth retardation, Narrow nasal bridge, Pr... |
ORPHA:1225 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Hypertelorism,... |
OMIM:122880 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Mandibular prognathia, Broad nasal tip, Downturned corners of mouth, Cleft upp... |
OMIM:239300 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Micrognathia, Deeply set eye, Ataxia, Hypertelorism, Non-midline cleft of the uppe... |
ORPHA:2710 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short stature, Small for gestational age, Short nose |
ORPHA:289266 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postnatal growth r... |
OMIM:614732 |
| Acrofacial Dysostosis, Catania Type |
|
Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,... |
ORPHA:1786 |
| Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Wide nasal bridge, Infancy onset short-trunk short stature, Macrodontia of ... |
ORPHA:444072 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, High palate, Short nose |
ORPHA:1913 |
| Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Micrognathia, Short nose, Hypertelorism |
OMIM:266810 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Proptosis, Encephalocele, Exencephaly, Hypertelorism |
ORPHA:2211 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide nasal bridge, Depressed nasal bridge, Optic disc coloboma, Umbilical hernia, Bulbous nose, N... |
OMIM:618454 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Proptosis, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death i... |
ORPHA:1790 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wide nasal bridge, Unilateral cleft lip, Intrauterine growth retardation, Anteverted nares, Micro... |
OMIM:616897 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Broad nasal tip, Long philtrum, Postnatal growth retardation, Prominent nasal ... |
OMIM:300749 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... |
ORPHA:552 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Mandibular prognathia, Bulbous nose, Tented upper lip vermilion, Smooth p... |
ORPHA:261144 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Prominent nose, Microg... |
OMIM:610706 |
| Robinow Syndrome |
|
Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perm... |
ORPHA:97360 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Hypogonadism, Deeply set eye, Thin vermilion border, Short philtrum,... |
ORPHA:2983 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Occipital encephalocele, Encephalocele, Short nose |
OMIM:613885 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Proptosis, Abnormal dental enamel morphology, Malar flattening, Hypodontia, ... |
ORPHA:3258 |
| Antley-Bixler Syndrome |
|
Choanal atresia, Proptosis, Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Na... |
ORPHA:83 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short stature, Cleft palate, Short nos... |
ORPHA:79113 |
| 8P23.1 Microdeletion Syndrome |
|
Wide nasal bridge, Intrauterine growth retardation, Prominent nasal bridge, Obesity, Micrognathia... |
ORPHA:251071 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilio... |
OMIM:620114 |
| Distal Deletion 10Q |
|
Wide nasal bridge, Proptosis, Failure to thrive, Postnatal growth retardation, Prominent nose, Pr... |
ORPHA:96148 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Toluene Embryopathy |
|
Hypoplasia of the zygomatic bone, Micrognathia, Smooth philtrum, Short nose, Short stature, Thin ... |
ORPHA:1920 |
| Rubinstein-Taybi Syndrome 1 |
|
Postnatal growth retardation, Micrognathia, Narrow mouth, Deeply set eye, Hypertelorism, High pal... |
OMIM:180849 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Hydrocephalus, Short stature,... |
OMIM:300863 |
| 20Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Proptosis, Tented philtrum, Retrognathia, Anteverted n... |
ORPHA:363659 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Failure to thrive, Micrognathia, Hypotelorism, Thin upper lip vermilion, Dee... |
ORPHA:329178 |
| Elsahy-Waters Syndrome |
|
Hypertelorism, High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, T... |
OMIM:211380 |
| Otopalatodigital Syndrome, Type I |
|
Wide nasal bridge, Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted te... |
OMIM:311300 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Proptosis, Downturned corners of mouth, Den... |
OMIM:616894 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Short nose |
DECIPHER:52 |
| Distal Deletion 9P |
|
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Proptosis, Hypertelorism, C... |
ORPHA:1642 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Postnatal growth retardation, Narrow mouth, Open mouth, Protruding t... |
OMIM:200990 |
| Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Bulbous nose, Obesity, Short nose |
OMIM:611936 |
| Adenylosuccinase Deficiency |
|
Long philtrum, Inability to walk, Anteverted nares, Wide mouth, Gait ataxia, Thin upper lip vermi... |
OMIM:103050 |
| Osteoglophonic Dysplasia |
|
Severe short stature, Choanal atresia, Rhizomelia, Depressed nasal bridge, Proptosis, Failure to ... |
OMIM:166250 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Loss of ambulation, Scissor gai... |
ORPHA:466722 |
| Orofacial Cleft 15 |
|
Palate fistula, Bulbous nose, Bilateral cleft palate, Bilateral cleft lip, Hypertelorism, Agenesi... |
OMIM:616788 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Death in childhood, Hypotelorism, Convex nasal ridge, Ataxia, Short statu... |
OMIM:300661 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Natal tooth, Inability to walk, Micrognathia, Short nose |
OMIM:617802 |
| Congenital Syphilis |
|
Hyperplasia of the maxilla, Intrauterine growth retardation, Mulberry molar, High palate, Concave... |
ORPHA:499009 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short philtrum, Tented upper lip vermilion, Short nose |
ORPHA:85277 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Wide nasal bridge, Proptosis, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin ... |
OMIM:615803 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Cleft upper lip, Narrow nose,... |
OMIM:164200 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Gliosis, Short nose |
OMIM:256600 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Underdeveloped nasal alae, Intrauterine growth retardation, Prominent nasal bridge, Micrognathia,... |
ORPHA:2083 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
| Boomerang Dysplasia |
|
Wide nasal bridge, Hypoplastic nasal septum, Severe short stature, Underdeveloped nasal alae, Neo... |
OMIM:112310 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| 16P13.11 Microdeletion Syndrome |
|
Self-injurious behavior, Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Short... |
ORPHA:261236 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Rhizomelia, Proptosis, Long philtrum, Anteverted nares, Narrow mouth, Mal... |
OMIM:228520 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
| Kleefstra Syndrome |
|
Downturned corners of mouth, Delayed eruption of teeth, Anteverted nares, Obesity, Tented upper l... |
ORPHA:261494 |
| Carey-Fineman-Ziter Syndrome |
|
Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted nares, Micrognathia, Thin vermilion b... |
ORPHA:1358 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Depressed nasal bridge, Long philtrum, Postnatal growth retardation, Intrauterine growth retardat... |
