| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Gombo Syndrome |
|
Microcephaly, Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly... |
OMIM:233270 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... |
OMIM:615771 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Microphthalmia, Age... |
OMIM:616570 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ... |
OMIM:164180 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Microceph... |
OMIM:613885 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum... |
OMIM:616171 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Microphthalmia |
OMIM:615524 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Cardiomyopathy, Hypoplasia of the brai... |
OMIM:613155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Retrocerebellar cyst, Hypoplasia of the brainstem, Cerebel... |
OMIM:617255 |
| Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... |
ORPHA:139471 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Microphth... |
ORPHA:324416 |
| Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Hydrocephalus, Postaxial hand polydactyly, An... |
ORPHA:2189 |
| Mmep Syndrome |
|
Ventricular septal defect, Microcephaly, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenes... |
ORPHA:77298 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Abnormal cerebellar vermis morphology, Absent septum pellucidum, Abnormal cortical ... |
ORPHA:899 |
| Trisomy 1Q |
|
Anophthalmia, Ventricular septal defect, Arachnodactyly, Toe syndactyly, Camptodactyly of finger,... |
ORPHA:261344 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... |
OMIM:611134 |
| Cofs Syndrome |
|
Cerebral calcification, Camptodactyly of finger, Short neck, Microcephaly, Aplasia/Hypoplasia of ... |
ORPHA:1466 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Abnorm... |
ORPHA:77299 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha... |
OMIM:614833 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... |
OMIM:600118 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Megalencephaly, Hydrocephalus, Progressive macrocephaly, P... |
OMIM:602501 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death, Microph... |
OMIM:613730 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Microcephaly, Hypoplasia of the corpus callosum, Atrial sept... |
OMIM:300887 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... |
OMIM:615249 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly |
OMIM:147250 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Postaxial hand polydactyly, Aplasia/Hypoplasia of the ir... |
ORPHA:3378 |
| Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation... |
OMIM:614219 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... |
OMIM:251270 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Microcephaly, Atrial septal defect,... |
ORPHA:3469 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology, Sec... |
OMIM:618652 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Cardiomegaly, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Microcephaly, Clin... |
OMIM:615583 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Hartsfield Syndrome |
|
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Ap... |
ORPHA:2117 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Radial deviation o... |
OMIM:136760 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short neck, Short toe, Chiari malformation, Short finger, Primary mic... |
ORPHA:487825 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyl... |
ORPHA:93323 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o... |
ORPHA:1617 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Sho... |
ORPHA:93267 |
| Baraitser-Winter Syndrome 2 |
|
Short neck, Lissencephaly, Secondary microcephaly, Webbed neck, Microphthalmia, Pachygyria, Agene... |
OMIM:614583 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Absent septum pellucidum, Short neck, Microcep... |
OMIM:609053 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, Temporal cortical atrophy, 2-3 toe syn... |
OMIM:615665 |
| Pierpont Syndrome |
|
Microcephaly, Short neck, Short toe, Short foot, Chiari malformation, Short finger, Short palm, P... |
OMIM:602342 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Microcephaly |
OMIM:614082 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P... |
OMIM:206920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cerebellar atrophy, Diffuse cerebral atrophy, Rocker bottom foot, Micr... |
OMIM:214150 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Complete atrioventricular c... |
OMIM:264480 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... |
OMIM:613150 |
| X-Linked Mandibulofacial Dysostosis |
|
Microcephaly, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Shor... |
ORPHA:2162 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of t... |
OMIM:613001 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Cerebellar hypoplasia, Microcephaly |
OMIM:606744 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Lateral ventricle dilatation, Umbilical hernia, Jo... |
OMIM:618914 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Short neck, Microcephaly, Aqueductal stenosis, Short tibia, Humeroradial synostosis, ... |
OMIM:251230 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Neonatal death, ... |
ORPHA:85284 |
| Fanconi Anemia, Complementation Group R |
|
Microcephaly, Absent thumb, Hydrocephalus, Chiari type I malformation, Microphthalmia, Radial dys... |
OMIM:617244 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Situs inversus totalis, Prea... |
ORPHA:564 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, Short neck, Microcephaly, Hypoplasia of the brainstem, Radioulnar s... |
OMIM:248700 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Temtamy Syndrome |
|
Brachydactyly, Short toe, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly o... |
ORPHA:1777 |
| Monosomy 18P |
|
Microcephaly, Short neck, Low posterior hairline, Holoprosencephaly, Webbed neck, Microphthalmia,... |
ORPHA:1598 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... |
OMIM:614643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Cerebellar vermis hypoplasia, Ventricular septal defect, Overlapping fi... |
OMIM:618494 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormal morphology of the radius, Anophthalmia, Absent septum p... |
ORPHA:2538 |
| Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis ... |
OMIM:610829 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly |
OMIM:610023 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus, Metaphysea... |
ORPHA:163966 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Tapered finger, Microcephaly, Camptodactyly |
ORPHA:435938 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short neck, Microcephaly, Duplication of phalanx of hallux, Low posterior ... |
OMIM:243310 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Cerebellar hypoplasia |
OMIM:618805 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Microcephaly, C... |
OMIM:616920 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot, Microcephaly |
OMIM:601349 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microcephal... |
OMIM:206900 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Neona... |
OMIM:601186 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Microph... |
ORPHA:3412 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... |
OMIM:614424 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Short neck, Muscular ventricular septal defect, Perimembranous ventricular se... |
OMIM:618804 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications, Delayed eruption of primary teeth |
ORPHA:90322 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... |
OMIM:601707 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi... |
ORPHA:290 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Thin corpus callosum, Camptodactyly, Microcephaly |
OMIM:619694 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Finger clinodactyly, Absent distal interphalangeal creases, Agenesi... |
ORPHA:1692 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int... |
OMIM:300166 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short neck, Dysplastic corpus callosum, Tetralogy of Fallot, Microphth... |
ORPHA:2328 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Microcephaly |
OMIM:619981 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Micr... |
OMIM:614105 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Increased nuchal translucency, Ab... |
ORPHA:453499 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Bilateral microphthalmos, Flared metap... |
OMIM:610758 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... |
OMIM:236670 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... |
OMIM:243605 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypoplasia of the corpus callosum, Microphth... |
OMIM:619185 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short distal phalanx of finger |
OMIM:609166 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Microcephaly, Postaxial... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Microcephaly, Postaxial... |
ORPHA:352665 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Global brain atrophy, Microcephaly |
OMIM:308350 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte... |
OMIM:619135 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Stevenson-Carey Syndrome |
|
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Atrial septal defect, Mi... |
OMIM:611961 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Overlapping toe, Microcephaly, Tapered finger, Short th... |
OMIM:619148 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Clinodactyly, Split hand, Hypoplasia of the brainstem, Tal... |
OMIM:157900 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Abnormal heart valve morpholog... |
ORPHA:99776 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Abnormal cardiac s... |
ORPHA:250989 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Hydrocephal... |
ORPHA:974 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Cerebral cortical atrophy |
ORPHA:48431 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dilated cardiomyopathy, Mitr... |
ORPHA:2556 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Short neck, Microcephaly, Biparietal narro... |
ORPHA:251038 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... |
OMIM:615636 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Holoprosenc... |
OMIM:612530 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Short 4th metacarpal, Short... |
ORPHA:264200 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short neck, Low posterior hairline, We... |
ORPHA:85194 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus ... |
OMIM:615663 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Microcepha... |
ORPHA:261337 |
| Temtamy Syndrome |
|
Thick corpus callosum, Short 2nd toe, Talipes equinovarus, Microphthalmia, Agenesis of corpus cal... |
OMIM:218340 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifida occulta, Sho... |
OMIM:305600 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, ... |
ORPHA:3191 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Microcephaly, Aqueductal stenosis, Abnormal tibia morpho... |
ORPHA:138 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Tricuspid ... |
ORPHA:1101 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... |
ORPHA:261330 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly |
OMIM:610756 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Short neck, Long fingers, Cerebellar vermis atrophy, Hypoplasia of the corpus callo... |
OMIM:156610 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Postaxial hand polydactyly, Postaxia... |
OMIM:608091 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Hypoplasia of the ... |
OMIM:616449 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Microphthalmia,... |
OMIM:234050 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce... |
OMIM:219000 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Abnormal heart morphology, Hypoplasia of... |
ORPHA:494344 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Microcephaly, Hydrocephalu... |
OMIM:309801 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... |
ORPHA:508488 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... |
ORPHA:50815 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pa... |
OMIM:100300 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Agenesis ... |
OMIM:256520 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Aplasia/Hypoplasia of the... |
ORPHA:2166 |
| Cockayne Syndrome Type 1 |
|
Basal ganglia calcification, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90321 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Abnormal cerebellum morphology, Aplasia/Hypoplasia of... |
ORPHA:2510 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Aniridia, Microphthalmia, Brachydactyly |
OMIM:602361 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Short neck, Abnormal heart morphology, Microphthalmia, Inferior cerebellar vermi... |
OMIM:618571 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Microphthalmia, Tapered finger, Short neck |
ORPHA:1438 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocy... |
OMIM:300952 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia, Hypoplasia of the olfactory... |
ORPHA:2250 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:612379 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Ventricular septal defect, Broad hallux, Proximal placement of thu... |
ORPHA:435638 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Martsolf Syndrome 1 |
|
Short metacarpal, Microcephaly, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata... |
OMIM:212720 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Short neck, Short thumb,... |
OMIM:244300 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Ventricular septal defect, Overlapping toe, Microcephaly,... |
ORPHA:464738 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Clinodactyly of the 5th toe, Microcephaly, Secondary microcephaly, Hypoplasia of... |
OMIM:614225 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Abnormal heart morphology, Abnormal cardiac ... |
ORPHA:42775 |
| Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:391474 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Cousin Syndrome |
|
Rhizomelia, Dislocation of the femoral head, Short neck, Hydrocephalus, Humeroradial synostosis, ... |
OMIM:260660 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Abnormal lower limb bone morphology, Abnormal femoral neck/... |
ORPHA:2788 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly,... |
ORPHA:141099 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:3301 |
| Charge Syndrome |
|
Anophthalmia, Secundum atrial septal defect, Hand monodactyly, Holoprosencephaly, Atrial septal d... |
OMIM:214800 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Short thumb, 2-3 toe syndactyly, Mitral valve prolapse, Genu valgum, H... |
ORPHA:2712 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Short neck, Holoprosencephaly, ... |
ORPHA:1587 |
| Mend Syndrome |
|
Thickened nuchal skin fold, Overlapping fingers, Broad hallux, Overlapping toe, Long neck, Hydroc... |
ORPHA:401973 |
| Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Microphthalmia, Spina bifida occulta |
OMIM:169550 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum |
ORPHA:1791 |
| Holoprosencephaly 1 |
|
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen... |
OMIM:236100 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short neck, Short palm, Clinodactyly of the 5th finger, Atrioventricular c... |
ORPHA:508498 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Warburg Micro Syndrome 3 |
|
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... |
OMIM:614222 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Abnormal cerebral morphology |
OMIM:113650 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... |
ORPHA:468631 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis ... |
ORPHA:268249 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprose... |
OMIM:147791 |
| Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Absent septum pellucidum, Overlapping toe, Patent foramen ovale, Umbil... |
OMIM:613884 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Coxa valga, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Wide pr... |
ORPHA:163649 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:610828 |
| Fryns Syndrome |
|
Thickened nuchal skin fold, Short neck, Abnormal cardiac septum morphology, Clinodactyly of the 5... |
ORPHA:2059 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Biparietal narrowing, Microcephaly |
ORPHA:1915 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the bra... |
OMIM:251300 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration, Complete atriove... |
OMIM:236680 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Atrial septal ... |
ORPHA:251014 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Hydrocephalus, Cardiac fibroma, Chiari malformation, Polyd... |
ORPHA:77301 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Short neck, Bilateral microphthalmos, Abnormal heart morph... |
ORPHA:369891 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia, Basal ganglia calcification, Microcephaly |
OMIM:610651 |
| Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand po... |
ORPHA:3380 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Simplified gyral pattern, Microcephaly |
OMIM:152950 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Microcephaly, Aplasia/Hypopla... |
OMIM:607932 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly, Microcephaly |
ORPHA:1942 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Cavum septum... |
OMIM:617306 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Agenesis of corpus callosum, Dandy-Walker malformation, Synd... |
OMIM:249000 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Arachnodactyly, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Lis... |
OMIM:617729 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
| Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Absent thumb, Short thumb, Hydrocephalus, Preaxial hand polydactyly, Absent radius,... |
OMIM:227646 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, 2-3 toe syndactyly, Abnormal heart morphology, ... |
ORPHA:404440 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Microcephaly, Hypopla... |
OMIM:613451 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Microcephaly, Abnormal... |
ORPHA:3186 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Proximal placement of thumb, Partial ag... |
OMIM:304050 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hydrocephalus, Partial duplicat... |
OMIM:164210 |
| Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... |
ORPHA:2612 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Relative macrocephaly, Rhizomelia, Postaxial polydactyly, Short tibia... |
OMIM:616300 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart... |
OMIM:184705 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Cardiomegaly, Abnormal finger m... |
ORPHA:3472 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Spina bifida, Hydrocephalus, Irregular ossification of hand bo... |
OMIM:109400 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypo... |
ORPHA:568 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Opti... |
OMIM:607323 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, M... |
ORPHA:2052 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Proximal placement of thumb, Short neck, Microcephal... |
OMIM:113620 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum, Short palm, Microphthalmia |
OMIM:241410 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Microphthalmia |
ORPHA:861 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Dandy-W... |
OMIM:606519 |
| Pallister-Hall Syndrome |
|
Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, M... |
OMIM:146510 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Microcephaly |
ORPHA:2728 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th finger, Macrocephaly, Prominent fi... |
OMIM:620098 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Increased nuchal translucency, Aplasia/Hypopl... |
ORPHA:1052 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm |
ORPHA:466950 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Microcephaly, Unilateral microphthalmos, Mitral valve prolapse, Macrocephaly, Polymicrogyria, Add... |
OMIM:618874 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Microcephaly |
ORPHA:2399 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Stippled calcification in carpal bones, Bilateral ... |
OMIM:302960 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Cranium bifidum occultum, Micr... |
ORPHA:306542 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Broad hallux, Atrial septal defect, Microphthalmia, Clinodactyly, Pa... |
OMIM:620186 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Clubbing of fingers, Right ventricular hypertrophy |
ORPHA:335 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Tapered finger, Subvalvular aortic stenosis, Macrocephaly, Clinodactyly of the 5th ... |
ORPHA:65286 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Witteveen-Kolk Syndrome |
|
Short palm, Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placemen... |
OMIM:613406 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cerebellar malformation, Microphthalmia, ... |
ORPHA:137675 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... |
OMIM:253280 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypoplasia, Hand monodactyly,... |
OMIM:609945 |
| Refsum Disease |
|
Microphthalmia, Short metacarpal, Hammertoe, Cardiomyopathy |
ORPHA:773 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Microceph... |
OMIM:272950 |
| Fanconi Anemia, Complementation Group L |
|
Short neck, Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Cerebellar... |
OMIM:614083 |
| Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal gap, Microcephaly, Tapered f... |
ORPHA:193 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Microcephaly |
ORPHA:2505 |
| Oculo-Palato-Cerebral Syndrome |
|
Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Microphthalmia, ... |
ORPHA:2714 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Absent radius, Umbilical hernia, Hypoplastic left heart, Total anomalo... |
OMIM:115470 |
| Fanconi Anemia, Complementation Group E |
|
Microcephaly, Absent thumb, Short thumb, Absent radius, Abnormal heart morphology, Microphthalmia... |
OMIM:600901 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Fryns Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Rocker bottom foot, Proximal placement of th... |
OMIM:229850 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Spina bifi... |
ORPHA:2092 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Microcephaly |
ORPHA:891 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Short palm, Brachydactyly, Tibial bowing, Retrocerebellar cyst, Short ... |
OMIM:601812 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Atrial ... |
OMIM:603467 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Fanconi Anemia, Complementation Group A |
|
Microcephaly, Absent thumb, Short thumb, Absent radius, Abnormal heart morphology, Microphthalmia... |
OMIM:227650 |
| Holoprosencephaly 2 |
|
Microcephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cerebellar hypoplasia, Holop... |
OMIM:157170 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Aplasia/Hypoplasia of the cere... |
ORPHA:50 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:284160 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Natal tooth |
OMIM:616395 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Persistence of primary teeth, Microphthalmia, Clinodactyly, 3-4 toe syn... |
OMIM:618727 |
| Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th fin... |
ORPHA:84 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of ... |
OMIM:616975 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Hypoplasia of the corpus callosum, Camptodactyly, Micro... |
OMIM:614230 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, Small... |
OMIM:257850 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... |
ORPHA:959 |
| Trichothiodystrophy |
|
Ventricular septal defect, Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus ... |
ORPHA:33364 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Bilateral microphthalmos, Femoral bowing, Large hands, Mac... |
ORPHA:2563 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowing of the legs, Fl... |
ORPHA:85167 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Short neck, Complete atrioventricular canal defect, Short tib... |
OMIM:617925 |
| Monosomy 9P |
|
Proximal placement of thumb, Short neck, Microcephaly, Abnormality of the tarsal bones, Postaxial... |
ORPHA:261112 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, ... |
ORPHA:464 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Atelis Syndrome 2 |
|
Microcephaly, Supravalvar pulmonary stenosis, Pulmonic stenosis, Microphthalmia, Clinodactyly |
OMIM:620185 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Webbed neck, Microphthalmia, Cystic hygroma |
OMIM:153400 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Microcephaly, Small hand, Short foot, Cerebellar hypoplasia, Clinodactyly of the 5th... |
ORPHA:2108 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Microcephaly, Absent thumb, Short thumb, Absent radius, Microphthalmia... |
OMIM:227645 |
| Oculodentodigital Dysplasia |
|
Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Abnormal cerebral white matter ... |
OMIM:164200 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, Microcephaly, Metaphyseal widening, Microphthalmia |
OMIM:234100 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Myhre Syndrome |
|
Ventricular septal defect, Overlapping toe, Short neck, Pericardial effusion, Microcephaly, Clino... |
OMIM:139210 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb |
ORPHA:1236 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Syndactyly, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Microcepha... |
OMIM:612289 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| 22Q11.2 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifid... |
ORPHA:567 |
| Cockayne Syndrome B |
|
Cerebellar calcifications, Delayed eruption of primary teeth, Microcephaly, Basal ganglia calcifi... |
OMIM:133540 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Microcephaly |
OMIM:278730 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Microcephaly |
OMIM:601675 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Talipes equinovarus |
ORPHA:35173 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
ORPHA:364577 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcephaly, Short neck, Tapered finger, Long fingers, 2-3 toe syndactyly, Hypoplasia of the cor... |
OMIM:616734 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Hypoplasia of the iris, Macular hyp... |
OMIM:609049 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Bicuspid aortic valve, Microcephaly, Radial deviation of finger, Webbed... |
OMIM:309800 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Microphthalmia |
OMIM:120330 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Microcephaly, Hypoplasia of the iris, Clinodactyly of the ... |
OMIM:223370 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Calcaneovalgus deformity, Large basal gangli... |
ORPHA:261537 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Microcephaly, Aplasia of the distal phalanx of the 5th toe, Ventricula... |
OMIM:608670 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Microphthalmia, Clinodactyly |
OMIM:300895 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Basal ganglia calcification, Cardiomyopathy, Microphthalmia, Subco... |
ORPHA:90324 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Microphthalmia, Hypoplasia of the fovea, Microcephaly |
OMIM:308300 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Abnormal pulmonary valve morphology, Prea... |
ORPHA:857 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Mic... |
OMIM:259770 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Short neck, Absent thumb, Short thumb, Ulnar bowing, Absent radius,... |
OMIM:263650 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Ra... |
ORPHA:672 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Basal ganglia calcification, Abnormality of the medullary cavity of the long bone... |
OMIM:127000 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Tapered finger, Microcephaly, Small hand, Atrial septal defect, Microphthalmia, Patent foramen ovale |
OMIM:620005 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Ventricular septal defect, Microcephaly, Short thumb, Preaxial hand p... |
OMIM:619488 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Prominent fingertip pads, Brachydactyly, Mesoaxial foot polydactyly, Bicuspid aortic valve, Overl... |
OMIM:612474 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Short neck, Microce... |
OMIM:268300 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia of the cer... |
OMIM:235730 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Cerebral calcification, Delayed eruption of primary teeth, Cerebral dysmyelin... |
ORPHA:191 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Calcaneovalgus deformity, Large basal gangli... |
ORPHA:261552 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Microcephaly, Situs inversus totalis, Cerebral atrophy, Clinodactyly o... |
OMIM:309500 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Schizencephaly, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Leukoe... |
OMIM:175780 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm, ... |
OMIM:268400 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Basal ganglia c... |
ORPHA:93325 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Calcaneovalgus deformity, Large basal gangli... |
ORPHA:2152 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly, Short neck |
OMIM:617666 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short metacarpal, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Prominent fingertip pads, Micro... |
OMIM:619539 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:273395 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Broad hallux, Arachnodactyly, Short finger |
OMIM:601552 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed eruption of teeth, Genu valgum, Buphthalmos, Microphthalmia, Umbilical hernia, Abnormal m... |
ORPHA:534 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Aplasia/Hypoplasia of the c... |
ORPHA:649 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Periventricular cysts, Genu valgum, Finger swelling, Microphthalmia |
OMIM:309000 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
