Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Rod-cone dystrophy |
OMIM:617055 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Optic atro... |
ORPHA:1914 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Prominent nose, Micrognathia, Dyspnea, Patent ductus art... |
OMIM:620185 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Narrow palate, Respiratory insufficien... |
ORPHA:207 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Brushfield spots, Bifid nasal t... |
ORPHA:1791 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Cryptorch... |
ORPHA:1716 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Respiratory... |
ORPHA:1832 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Cataract, Remnants of the hyaloid vascular s... |
OMIM:614643 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Supernumerary Nostril |
|
Microcornea, Supernumerary naris, Choanal atresia, Developmental cataract |
ORPHA:141096 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Broad nasal tip, ... |
OMIM:603671 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... |
ORPHA:521308 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Asthm... |
ORPHA:2714 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Spina bifida, Abnormal nasal morphology, Cleft palate, Bilateral cleft lip and p... |
ORPHA:1104 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Patent ductus arteriosus, Bulbous nose, ... |
ORPHA:284169 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilate... |
OMIM:608572 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Respiratory insufficiency, Convex nasa... |
ORPHA:93262 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Prominent nasal bridge, Cataract, Choanal atresia, Micrognathia |
OMIM:615095 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Respiratory insufficiency, Sho... |
ORPHA:1895 |
Bamforth-Lazarus Syndrome |
|
Cleft palate, Bilateral choanal atresia |
OMIM:241850 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Optic disc coloboma, Cleft pal... |
ORPHA:52055 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the tongue, Choanal atresia, Dyspnea, Wide nasal brid... |
ORPHA:2759 |
Choanal Atresia And Lymphedema |
|
High palate, Choanal atresia |
OMIM:613611 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cryptorchidism, Anosmia, Cleft palate, Hyposmia, Iris coloboma |
OMIM:147950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Bilateral cryptorchidism, Esophageal a... |
OMIM:619859 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Patent ductus arteriosus, Opti... |
OMIM:300472 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Optic nerve hypoplasia, High, narrow palate, Depressed nasal ridge, Cleft palate... |
OMIM:607597 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of ... |
ORPHA:2409 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Morning glory anomaly, Cleft palate, Abnormality of the sense of smell, Coloboma |
ORPHA:91412 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Choanal stenosis, Depressed nasal bridge, Choanal atresia |
OMIM:179270 |
Rere-Related Neurodevelopmental Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Optic atrophy, Astigmatism, Chor... |
ORPHA:494344 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsor... |
ORPHA:92050 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, High, narro... |
OMIM:604841 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Asthma, Cleft palate, ... |
ORPHA:280200 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Optic atroph... |
OMIM:615042 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Recurrent upper respiratory tract infections, Respirat... |
OMIM:263000 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Corneal erosion, Optic disc coloboma, Cleft palate, Rect... |
OMIM:270420 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, ... |
ORPHA:1555 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... |
ORPHA:87 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Optic atrophy, Retrognathia, Short nose, Br... |
ORPHA:561 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Cataract, Depressed nasal bridge, Choanal atresia, Prominent nose, Patent d... |
OMIM:300968 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Choanal atresia, Anal atresia |
OMIM:119580 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Micrognathia, Mandibular condyle aplasia, Temporomandibular joint an... |
OMIM:614669 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia |
OMIM:612247 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Choanal atresia |
OMIM:613970 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Prominent... |
OMIM:300166 |
Gapo Syndrome |
|
Keratoconus, Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Prematurely aged... |
ORPHA:2067 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Pro... |
OMIM:123790 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Norrie Disease |
|
Narrow nasal bridge, Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Catarac... |
ORPHA:649 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate |
ORPHA:2901 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Pr... |
OMIM:157170 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Abnormal vitreous humor morphology, Clef... |
ORPHA:90653 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Supernumerary nipple, Hypoplasia of the maxilla, Patent ductus arteriosus, Wide nasal bridge, Cle... |
OMIM:106260 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, High p... |
OMIM:101600 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Fg Syndrome Type 1 |
|
Choanal atresia, Facial wrinkling, Prominent nose, Malrotation of colon, Abnormal large intestine... |
ORPHA:93932 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Cleft ... |
OMIM:610536 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft pala... |
ORPHA:93259 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Keratitis,... |
ORPHA:1051 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Iri... |
ORPHA:861 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Barrett esophagus, Choanal atresia, Intestinal malrotation, Pylor... |
ORPHA:1199 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Osteoglosphonic Dysplasia |
|
Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Multiple unerupted teeth |
ORPHA:2645 |
Sweeney-Cox Syndrome |
|
Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Patent ductus arterios... |
OMIM:617746 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Death in infancy, Depressed nasal bridge, Patent... |
ORPHA:166272 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Patent ductus ar... |
OMIM:608799 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Sho... |
OMIM:619539 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Choanal stenosis, Bifid uvula, Iris coloboma, Depressed nasal bridg... |
OMIM:620186 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Posterior subcapsular cat... |
ORPHA:637 |
Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Cataract, Choanal atresia, Spina bifida, ... |
ORPHA:3380 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft pala... |
ORPHA:93260 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Choanal atresia, Micrognathia, Pyloric stenosis, Patent... |
OMIM:619148 |
Acrocraniofacial Dysostosis |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Cleft palate, Advanced e... |
ORPHA:949 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Convex nasal ridge |
OMIM:619793 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate |
ORPHA:2316 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response... |
OMIM:245590 |
Holoprosencephaly |
|
Depressed nasal ridge, Absent nares, Chorioretinal coloboma, Iris coloboma, Encephalocele, Aplasi... |
ORPHA:2162 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Cleft palate, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Chromosome 9P Deletion Syndrome |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Micrognathia, High, narrow palate, Pat... |
OMIM:158170 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Cataract, Anal stenosis, Choanal atresia, Aganglionic megacolon,... |
OMIM:607323 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Cutis marmorata, Choanal atresia, Depressed nasal bridge, Anteverted n... |
OMIM:122470 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi... |
OMIM:619227 |
Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High pal... |
OMIM:602535 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Choanal atresia, Cryptorchidism, Anosmia, Dental malocclusion, Cleft palate, Hypoplasia... |
OMIM:603457 |
Kilquist Syndrome |
|
Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H... |
OMIM:619080 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... |
ORPHA:60032 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Corneal astigmatism, Episodic respira... |
ORPHA:141083 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl... |
ORPHA:2257 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Pr... |
OMIM:259775 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:83 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Choanal atresia, Proboscis, Optic n... |
ORPHA:141099 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Absent nipple, Choanal atresia |
OMIM:113700 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Abnormal retinal morphology, Wide nasal bridge |
ORPHA:89844 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Choanal atresia, Micrognathia, Patent ductus arteriosus, Cleft palate |
OMIM:613309 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Malaria |
|
Respiratory distress, Retinopathy |
ORPHA:673 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula, Choanal atresia |
ORPHA:1923 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Microglossia, Absent nares, Mandibul... |
ORPHA:990 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Decre... |
OMIM:146510 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Choanal atresia, Reduced forced expiratory volume in one second, Convex nasal ridge, Chronic lung... |
OMIM:613385 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,... |
OMIM:616462 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Nasal congestion, Tracheomalacia, Chron... |
ORPHA:137914 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Choanal atresia, Micrognathia, Cryptorchidism, Fibrous syngnathia, Cleft palate, Popliteal pterygium |
ORPHA:1300 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Super... |
ORPHA:2108 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Bulbou... |
OMIM:616975 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prominent scalp veins, Lacrimal duct stenosis, Cutis marmorata, Choanal at... |
OMIM:151050 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Choanal atresia, Micrognathia, Long nose, ... |
OMIM:251260 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Choanal atresia, Facial wrinkling, Prominent nose, Intestinal malrotation, Pyloric... |
OMIM:305450 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t... |
OMIM:613717 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Depressed nasal bridge, A... |
OMIM:166250 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Micrognathia, Cleft palate, Astigmatism, Vitreoretinopathy |
ORPHA:250984 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy |
ORPHA:26792 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Macroglossia, Prolonged neonatal jaundice, Umbilica... |
ORPHA:226313 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Chorioretinal dystrophy, Micrognathia, High, narrow palate, Dyspnea, Optic ... |
ORPHA:2707 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Anteverted nares, Optic atrophy, Wide nasal bridge, Hi... |
OMIM:619383 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Hypoplastic ... |
ORPHA:3304 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Cutis marmorata, Choanal atresia, Sclerocornea, Anteverted nares, Aganglionic megacolon... |
ORPHA:818 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Hypoparathyroidism, Abnormal dental enamel morphology, Sp... |
ORPHA:567 |
Rodrigues Blindness |
|
Narrow nasal bridge, Sclerocornea, Nasal flaring, Microcornea, Ectodermal dysplasia |
OMIM:268320 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Upper airway obstruction, Depressed nasal bridge, Choanal stenosis, Choanal atresia |
OMIM:207410 |
Kniest Dysplasia |
|
Respiratory distress, Retinal detachment, Cataract, Depressed nasal bridge, Cleft palate, Tracheo... |
OMIM:156550 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Bulbous nose, Wide nasal bridge, Micrognathia |
ORPHA:261304 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Anal stenosis, Lacrimal duct stenosis, Choanal atresia, Absence ... |
OMIM:604292 |
Diamond-Blackfan Anemia 7 |
|
Esophagitis, Patent ductus arteriosus, Choanal atresia, Cleft palate |
OMIM:612562 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Ectopia lentis, Micrognat... |
ORPHA:560 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Mandibular... |
OMIM:202650 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Choanal stenosis, Choanal atresia, Micrognathia |
OMIM:156400 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Carious teeth, Retinal pigment epithelial mottling,... |
OMIM:617102 |
Postaxial Acrofacial Dysostosis |
|
Choanal atresia, Supernumerary nipple, Micrognathia, Midgut malrotation, Pyloric stenosis, Crypto... |
OMIM:263750 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia |
OMIM:300934 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Esopha... |
OMIM:101200 |
Chitayat Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella, Tracheomalacia |
OMIM:617180 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Anteverted nares, Micrognathia, Wide nasal bridge, High palate, P... |
ORPHA:3309 |
Limb Body Wall Complex |
|
Encephalocele, Corneal opacity, Depressed nasal bridge, Spina bifida, Choanal atresia, Myelomenin... |
ORPHA:2369 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Depressed nasal bridge, Choanal atresia, Hiatus hernia, Pancreatic cysts, Developmental glaucoma,... |
OMIM:610199 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat... |
ORPHA:314655 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Ca... |
ORPHA:2363 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, High palate, Inspiratory stridor,... |
OMIM:604377 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele, Cleft palate |
ORPHA:66637 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, High, narr... |
ORPHA:261330 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Decreased response to ... |
OMIM:129900 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Death in childhood |
OMIM:615597 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, Co... |
ORPHA:3392 |
Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Cardiorespiratory arrest, Lens ... |
ORPHA:93296 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Depressed nasal bridge, Intestinal malrotation, Submucous cleft har... |
ORPHA:3426 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Cyanotic episode, Micrognathia |
ORPHA:284417 |
Eec Syndrome |
|
Choanal atresia, Abnormal dental enamel morphology, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Depressed nasal bridge, Choanal atresia, Narrow... |
OMIM:275210 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Exudative retinopathy, Abnormal vitreous humor morphology, Exudative vitreore... |
ORPHA:2788 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Microglossia |
OMIM:612776 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Patent ductus art... |
ORPHA:163979 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Depressed nasal bridge, Jaundice, Developmental cataract, Neonatal death, H... |
OMIM:231680 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Micrognathia, Optic atrophy, Dental malocclusion, High palate, Short nose |
ORPHA:329178 |
Intermediate Uveitis |
|
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Macular edema, Optic neuriti... |
ORPHA:279914 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, High... |
OMIM:300219 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Moebius Syndrome |
|
Decreased testicular size, Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal... |
OMIM:157900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Abnormal intestine morphology, Choanal atresia, Chronic lung disease |
ORPHA:228426 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Cataract, Respiratory distress |
ORPHA:544503 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Wide nose, Monorchism, Choanal atresia, Micrognathia, High, narrow pal... |
ORPHA:2753 |
Orofaciodigital Syndrome Type 1 |
|
Choanal atresia, Hamartoma of tongue, Underdeveloped nasal alae, Micrognathia, Abnormal dental en... |
ORPHA:2750 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Coug... |
ORPHA:142 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea |
ORPHA:79097 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... |
ORPHA:98914 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Charge Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Abnormal soft palate morpholo... |
ORPHA:138 |
Knobloch Syndrome |
|
Occipital encephalocele, Retinal detachment, Cataract, Depressed nasal bridge, Ectopia lentis, Py... |
ORPHA:1571 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Respira... |
ORPHA:3015 |
Stickler Syndrome, Type I |
|
Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous c... |
OMIM:108300 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Cyanosis, Optic atrophy, Retinal degeneration |
ORPHA:391428 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cataract, Depressed nasal bridge, Choanal atresia, Prominent nose, Cyst of ... |
ORPHA:480880 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Depressed nasal bridge, Choanal atresia, Elevated circulating luteinizing ho... |
ORPHA:95699 |
Fanconi Anemia |
|
Cataract, Aganglionic megacolon, Choanal atresia, Spina bifida, Micrognathia, Aplasia/Hypoplasia ... |
ORPHA:84 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Apnea, Choanal atresia, Micrognathia, Protruding tongue, Aspiration |
ORPHA:98889 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Developmental cataract, Volvulus, Bruising susceptibility, De... |
ORPHA:335 |
Congenital Heart Block |
|
Pleural effusion, Patent ductus arteriosus, Cyanosis, Crackles |
ORPHA:60041 |
Aspergillosis |
|
Chronic lung disease, Sinusitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruc... |
ORPHA:1163 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Mi... |
OMIM:217980 |
Treacher Collins Syndrome 1 |
|
Lacrimal duct stenosis, Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Cleft p... |
OMIM:154500 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Choanal atresia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Clef... |
OMIM:300712 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Choanal atresia, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly place... |
OMIM:617063 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
ORPHA:1143 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
Tetraamelia Syndrome 1 |
|
Cataract, Choanal atresia, Micrognathia, Single naris, Cleft palate, Adrenal gland agenesis, Anal... |
OMIM:273395 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate |
OMIM:620011 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal br... |
ORPHA:438216 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Encephalopathy, Ethylmalonic |
|
Abnormal retinal vascular morphology, Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Cleft pa... |
ORPHA:261112 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prematurely aged appearance, Choanal atresia, Abnormal dental enamel morph... |
ORPHA:2658 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Rod-cone dystrophy, Cataract, Optic atrophy |
ORPHA:254913 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Wide ... |
ORPHA:314679 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Wide nose, Patent ductus arteriosus, Recurrent pneumonia, Optic atrophy, Wi... |
OMIM:617303 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Vitritis, Retinal dysp... |
ORPHA:2556 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Cyanosis, Anteverted nares, Micrognathia, Pneumothora... |
OMIM:619879 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy, Apnea |
OMIM:261680 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Tarp Syndrome |
|
Cyanosis, Anteverted nares, Apnea, Micrognathia, Cryptorchidism, Optic atrophy, Wide nasal bridge... |
ORPHA:2886 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Micrognathia, Neonatal dea... |
OMIM:608013 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Optic atrophy |
ORPHA:370924 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Retinal detachment, Wide nose, Cryptorchidism, Patent ductus arteriosus, Re... |
OMIM:607143 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, ... |
OMIM:608022 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary... |
OMIM:220110 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Retinal detachment, Cleft palate, Cervical myelopathy, Restrictive ventilat... |
OMIM:183900 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis... |
ORPHA:209959 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Respiratory failure, Neonatal death,... |
OMIM:616482 |
Antiphospholipid Syndrome, Familial |
|
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion |
OMIM:107320 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Prominent nose |
OMIM:614407 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Hamartoma of tongue, Micrognath... |
ORPHA:137888 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia, Cryptorchidism, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Goiter |
ORPHA:97285 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Cryptorchidism, High palate, Respiratory insufficiency |
ORPHA:1145 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Depressed nasal bridge, Pyloric stenosis, Pate... |
ORPHA:363705 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Cataract, Anteverted nares, Cutis marmorata, Choanal atresia, Depresse... |
ORPHA:199 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Respiratory distress, Anteverted nares, Iris hypopigmentation, Decreased res... |
ORPHA:177907 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Wide nose, Apnea, Optic atrophy, Hydrocele testis, High pa... |
ORPHA:79330 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Cutis marmorata, Choanal atresia, Depressed nasal bridge, Broad nasal ... |
OMIM:135900 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A... |
ORPHA:93958 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Depressed nasal bridge, Rhegmatogen... |
ORPHA:485 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Anteverted nares, High, narrow palate, Patent ductus arteriosus, Submucous ... |
OMIM:612863 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... |
ORPHA:90051 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Micrognathia, Aplasia/Hypopl... |
ORPHA:1662 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cataract, Micrognathia, Trismus, Bulbous nose, Recurrent pneumonia, Zonular... |
OMIM:616271 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy |
ORPHA:79312 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Depressed nasal bridge |
OMIM:617895 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Intestinal edema, Abnormal soft palate morphology, Dyspnea, Limbal edema, U... |
ORPHA:100050 |
Farber Disease |
|
Respiratory distress, Corneal opacity, Recurrent upper respiratory tract infections, Respiratory ... |
ORPHA:333 |
Charge Syndrome |
|
Hypoparathyroidism, Anal stenosis, Cataract, Choanal atresia, Decreased response to growth hormon... |
OMIM:214800 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Pitt-Hopkins Syndrome |
|
Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Supernumerary nip... |
ORPHA:2896 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Anteverted nares,... |
ORPHA:672 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Cataract, Testicular atrophy |
OMIM:160900 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Ethylmalonic Encephalopathy |
|
Retinal vascular tortuosity, Acrocyanosis, Petechiae |
ORPHA:51188 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Nasal polyposis, Cutis marmorata, Sinusitis, Malabsorption, Asthma, Respi... |
ORPHA:183 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Repeated pneumothoraces, Microgna... |
ORPHA:536467 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Cleft palate, Short nose, Retrognathia, Narrow nose |
OMIM:301044 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Midgut malrotation, Cleft pal... |
ORPHA:2326 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Patent ductu... |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Underdeveloped nasal alae, Micrognathia, Supernumerary tooth, Concave nasal ridge, Bil... |
OMIM:619525 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Respiratory distress |
OMIM:184260 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Occipital encephalocele, Retinal detachment, Optic disc pal... |
OMIM:267750 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Choanal atresia, Aganglionic megacolon, Abnormal dental enamel morphology, Kerat... |
ORPHA:2273 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Hiatu... |
ORPHA:3342 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasi... |
OMIM:305100 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Short nose, Respiratory distress |
ORPHA:50810 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Patent ductus arteriosus, Cyanosis, Tachypnea |
ORPHA:860 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Corneal dystrophy, Hypoplasia of the maxilla, High, narrow palate, Cryptor... |
ORPHA:1101 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Corneal opacity, Tachypnea, Optic atrophy, Cleft palate, Polycystic ovaries, Cough, Meg... |
ORPHA:137675 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Lens luxation, Micrognath... |
OMIM:154780 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Abnormality of retinal pigmentation, Patent ductus arteriosus, Optic atroph... |
ORPHA:505248 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia |
OMIM:606164 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Depressed nasal bridge |
OMIM:151210 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Resp... |
ORPHA:98915 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Conjunctivitis, Hyperve... |
ORPHA:79241 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Protruding tongue |
OMIM:619580 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Oral leukoplakia, Respiratory distress |
ORPHA:2309 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Keratoconjunctivitis |
ORPHA:79242 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Patent ductus art... |
ORPHA:141127 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Respiratory failure, High palate, ... |
OMIM:620278 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Knobloch Syndrome 2 |
|
Encephalocele, Retinal detachment, Anterior cortical cataract, Micrognathia, Vitreous floaters, P... |
OMIM:618458 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxill... |
OMIM:180849 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifida, Esophage... |
OMIM:192350 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Macular coloboma, Pulmonary embolism, Jaundice, Optic atrophy, Pigmentary r... |
ORPHA:79282 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, Upper airway obstruction, Choanal... |
OMIM:100800 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Adnp Syndrome |
|
Respiratory distress, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract i... |
ORPHA:404448 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Respiratory distress, Neonatal respiratory distress, La... |
OMIM:616268 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
Tetanus |
|
Respiratory distress, Trismus, Tachypnea |
ORPHA:3299 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Corneal opacity, Narrow... |
ORPHA:740 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis,... |
ORPHA:31826 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cataract, Apnea, Cyanosis, Macroglossia, Pleural effusion |
OMIM:261740 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Choanal atresia, Cryptorchidism, Tracheoesophageal fistula,... |
OMIM:107480 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Micrognathia, Wide nasal bridge, Pleural effusion, High palate, Short nose,... |
OMIM:620369 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Delayed eruption of ... |
OMIM:119600 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchidis... |
ORPHA:2554 |
Mgat2-Cdg |
|
Respiratory distress, Patent ductus arteriosus, Hypoplastic nipples, Recurrent upper and lower re... |
ORPHA:79329 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency... |
OMIM:252010 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Patent d... |
ORPHA:210122 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Erythema, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorly placed anus |
ORPHA:26793 |
Cryptococcosis |
|
Respiratory distress, Abnormal retinal morphology, Pneumonia, Dyspnea, Vitritis, Abnormal optic n... |
ORPHA:1546 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Pulmonary a... |
ORPHA:2519 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Retinal thinning, Cataract, Asteroid hyalosis |
ORPHA:166011 |
Usher Syndrome, Type Ig |
|
Rod-cone dystrophy, Hypoplasia of the nasal bone |
OMIM:606943 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Depressed nasal bridge, Anteverted nares, Decreased response to growth... |
ORPHA:293987 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus |
OMIM:617239 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Death in childhood, De... |
OMIM:613848 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Elevated circulating luteinizing hormone level |
OMIM:250790 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Doors Syndrome |
|
Respiratory distress, Cataract, Anteverted nares, Adrenal hyperplasia, Broad nasal tip, Bulbous n... |
ORPHA:79500 |
Infantile Krabbe Disease |
|
Respiratory distress, Cherry red spot of the macula, Respiratory failure, Optic atrophy |
ORPHA:206436 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Chorioretinal lacunae, Aspiration, Retinal pigment epithelial mottling |
OMIM:618733 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Corneal erosion, Erythema, Tracheoes... |
ORPHA:537 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Stickler Syndrome |
|
Retinal detachment, Cataract, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel mo... |
ORPHA:828 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Premature graying of hair, Restrictive ventilatory defect, Oral leukoplakia |
OMIM:619767 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... |
ORPHA:2905 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Pneumonia... |
ORPHA:95455 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Cryptorchidism, Premature graying of hair, Exudative retinopathy, Decreased DLCO, Oral leukoplakia |
OMIM:613990 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Apnea, Spina bifida,... |
OMIM:114290 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Symblepharon, Carious teeth, Corn... |
OMIM:173650 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Nonproductive cough, Patent ductus arteriosus, Dyspnea, Recurrent pneumonia,... |
ORPHA:980 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratitis, Corneal scarring, Furrowed tongue, Keratoconjunctivitis sicca, Recurrent corneal erosi... |
OMIM:148210 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Acrocyanosis, Heteroc... |
ORPHA:1764 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Pneum... |
ORPHA:31204 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Wide nose, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Polycystic ovaries, Anteriorl... |
OMIM:201750 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Oral leukoplakia |
OMIM:224230 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ... |
OMIM:224690 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Retinoblastoma |
|
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma |
OMIM:180200 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Hyperoxaluria, Primary, Type I |
|
Choroidal neovascularization, Cutis marmorata, Retinal crystals, Optic neuropathy, Optic atrophy,... |
OMIM:259900 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Dyspnea, Hepatic necrosis, Premature graying of hair, Interstitial pneumonitis, Or... |
OMIM:127550 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Streak ovary, Aganglionic megacolon, Broad nasal... |
ORPHA:798 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Neonatal respiratory distress, Respiratory distress, Asth... |
ORPHA:209905 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Corneal scarring, Hepatocellular necrosis, Recurrent corneal eros... |
OMIM:256810 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Cutis marmorata, Anteverted nares, Rectal prolapse, Dental malo... |
OMIM:303600 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Trismus, Erythema, Xerostomia, Keratoconjunctivitis, Urticaria, Opaci... |
ORPHA:2907 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Underdeveloped nasal alae, Micrognathia, Pyloric stenosis, Biliary hyperpla... |
ORPHA:83617 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Fucosidosis |
|
Acrocyanosis, Corneal opacity, Vascular skin abnormality |
ORPHA:349 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Asthma, Nasal flaring, Wide nasal bridge, ... |
ORPHA:466943 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Decreased sensitivity to hypoxemia, Corneal ulceration, Recurrent corneal erosions |
OMIM:223900 |
Primary Hyperoxaluria |
|
Optic disc pallor, Cutis marmorata, Choroidal neovascularization, Optic atrophy, Abnormal dental ... |
ORPHA:416 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Leptospirosis |
|
Respiratory distress, Papilledema, Jaundice, Retinal hemorrhage, Chorioretinitis, Pleural effusio... |
ORPHA:509 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Cataract, Telangiectasia of the skin, Esophageal stenosis, Malabsorptio... |
ORPHA:1775 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Renal tubular epith... |
ORPHA:79404 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Dyspnea, Angioedema, As... |
ORPHA:3260 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Patent ductus arteriosus, Cyanosis, Tachypnea |
ORPHA:3427 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis |
ORPHA:36234 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Hyperventilation, Wheezing, Tachypnea, Pneumothorax... |
ORPHA:90068 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Mydriasis, Aspiration, Flushing |
ORPHA:2131 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Premature graying of hair, Exudative retinopathy, Intestin... |
OMIM:612199 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Cataract, Carious teeth, Cryptorchidism, Esophageal stricture, Optic a... |
OMIM:305000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... |
ORPHA:37042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Microretrognathia, Ectopic posterior pituitary, Respiratory distress, Anteverted ... |
ORPHA:508488 |
Revesz Syndrome |
|
Oral leukoplakia, Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Pigmentary retinopathy, Rod-cone dy... |
ORPHA:255210 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Posteriorly placed anus, Patent ductus arteriosus, Myelomeningoce... |
OMIM:306955 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae |
OMIM:620133 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Oral leukoplakia |
OMIM:616353 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Anteverted nares, Corneal ulceration, Corneal opacity |
OMIM:615273 |
Japanese Encephalitis |
|
Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration |
ORPHA:79139 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Neonatal respiratory distress, Respiratory distress, Steatorrhea |
OMIM:260400 |
Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
Dyskeratosis, Hereditary Benign Intraepithelial |
|
Oral leukoplakia |
OMIM:127600 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Prominent nose, Erythema, Respiratory acidos... |
OMIM:614748 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Conjunctivitis |
ORPHA:533 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Oral leukoplakia |
OMIM:615735 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Pituitary adenoma, Parathy... |
ORPHA:805 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Excessive wrinkled skin, Oral leukoplakia |
ORPHA:3322 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Q Fever |
|
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Oral leukoplakia, Squamous cell carcinoma of the tongue |
OMIM:613988 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia |
OMIM:167200 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia |
ORPHA:2505 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Oral leukoplakia, Fragile skin, Telangiectases of the cheeks |
OMIM:616295 |
White Sponge Nevus 1 |
|
Oral leukoplakia |
OMIM:193900 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Oral leukoplakia |
OMIM:613987 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Pachyonychia Congenita 2 |
|
Natal tooth, Oral leukoplakia |
OMIM:167210 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Supernumerary tooth, Patent ductus arteriosus, Apla... |
OMIM:617088 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Patent ductus arteriosus... |
ORPHA:97214 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation |
OMIM:616749 |
Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Abnormal retinal morphology, Pleural empyema, Cough, Exudative p... |
ORPHA:228123 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Oral leukoplakia |
OMIM:618165 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Patent ductus arteriosus, Apnea |
ORPHA:17 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Premature graying of hair, Esophageal stricture, Oral leukoplakia |
OMIM:613989 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat... |
ORPHA:287 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Trismus, Asthma, Smooth tongue, Ectopic thyroid |
ORPHA:3206 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Developmental glaucoma, Prolonged neonatal jaundice, Acrocyanosis, Convex nasal ... |
ORPHA:51 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pneumothorax, Respira... |
ORPHA:3404 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Choroidal neovascularization, Abnormal retinal artery morphology,... |
ORPHA:51608 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Scimitar Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension |
ORPHA:185 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Retinal vasculitis, Vasculitis in the ski... |
ORPHA:48435 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
Dermatomyositis |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A... |
ORPHA:221 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract, Hypoplasia of the nasal bone |
OMIM:118650 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia |
OMIM:236670 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Cataract, Anteverted nares, Prominent nasal bridge, ... |
ORPHA:79318 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia |
ORPHA:2092 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Patent ductus... |
ORPHA:99125 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Patent ductus arteriosus, Aplasia/Hypoplasia of the... |
ORPHA:2255 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Truncus Arteriosus |
|
Tachypnea, Patent ductus arteriosus, Cyanosis, Hypoplasia of the thymus |
ORPHA:3384 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
OMIM:234100 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Plague |
|
Respiratory distress, Enterocolitis, Acute infectious pneumonia, Inflammation of the large intest... |
ORPHA:707 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia |
OMIM:147791 |
Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Oral leukoplakia |
OMIM:620040 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Incontinentia Pigmenti |
|
Microphthalmia |
ORPHA:464 |
Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Apnea, Malabsorption, Keratoconjunctivitis sicca, Umbilical hernia, Acrocyanosis |
ORPHA:285 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Monosomy 9Q22.3 |
|
Microphthalmia |
ORPHA:77301 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Orchitis, Erythema, Oral leukoplakia |
ORPHA:342 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas, Respiratory distress |
ORPHA:358 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:508498 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:564 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia |
ORPHA:1052 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:133540 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Trichothiodystrophy |
|
Bilateral microphthalmos |
ORPHA:33364 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia |
OMIM:620005 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia |
ORPHA:534 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Cyanosis |
ORPHA:216694 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Fryns Syndrome |
|
Microphthalmia |
OMIM:229850 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Cockayne Syndrome |
|
Microphthalmia |
ORPHA:191 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Pachyonychia Congenita 3 |
|
Oral leukoplakia, Furrowed tongue |
OMIM:615726 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Meckel Syndrome, Type 1 |
|
Microphthalmia |
OMIM:249000 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:3472 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Retrognathia, Recurrent pneumonia, Developmental cataract |
ORPHA:99646 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia |
OMIM:613884 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Witteveen-Kolk Syndrome |
|
Microphthalmia |
OMIM:613406 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia |
OMIM:268300 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |