Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysp... |
OMIM:615771 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Microcephaly, Clinodactyly... |
OMIM:233270 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Short... |
OMIM:613885 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Talipes equinovarus, Microphthalmia, Microcephaly |
OMIM:616570 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplasia, Lis... |
ORPHA:1528 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Anophthalmia, Hypoplasia of the corpus callosum, Agene... |
OMIM:164180 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microphthalmia, Simplified gyral pattern, Cerebral atrophy, Microcephaly |
OMIM:616171 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of t... |
OMIM:613153 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Microphthalmia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:614830 |
Mmep Syndrome |
|
Ventricular septal defect, Microphthalmia, Triphalangeal thumb, Microcephaly, Split foot |
ORPHA:3434 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hyp... |
OMIM:218670 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
Congenital Varicella Syndrome |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia |
ORPHA:291 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia, Dextrocardia |
OMIM:221950 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypopl... |
OMIM:615181 |
Lambert Syndrome |
|
Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect |
ORPHA:1296 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Cerebellar malformation, Hydrocephalus, Macrocephaly at birth, Type II lissencephaly |
ORPHA:324416 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Proximal placement of thumb, Inferior vermis hypoplasia, Finger syn... |
ORPHA:139471 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Hydrolethalus |
|
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Absent septum pellucidum, Hydrocephal... |
ORPHA:2189 |
Cofs Syndrome |
|
Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Cere... |
ORPHA:1466 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Dandy-Walker malformation, Microphthalmia, Anophthalmia, Absent septu... |
ORPHA:899 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Progressive macrocephaly, Ventricular septal defect, Microphthalmia, Megalencephaly, Polydactyly,... |
OMIM:602501 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly, Anterior hypopituitarism, Decreased response to ... |
OMIM:147250 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Holoprosencephaly, Hydrocephalus, Agenes... |
ORPHA:77298 |
Meckel Syndrome, Type 4 |
|
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Anencephaly, A... |
OMIM:611134 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebellar hypoplasia, Cerebral atrophy, Mi... |
OMIM:251270 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:274270 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Occipital cortical atrophy |
ORPHA:411986 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microphthalmia, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicro... |
OMIM:614833 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormal morphology of the radius, Atrial septal defec... |
ORPHA:3469 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Microphthalmia, Overlapping toe, Cerebellar vermis hypoplasia, Cerebe... |
OMIM:600118 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
Congenital Toxoplasmosis |
|
Microphthalmia, Cardiomegaly, Hydrocephalus, Cerebral calcification, Microcephaly |
ORPHA:858 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Cerebellar hypoplasia, ... |
OMIM:214150 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Macrocephaly, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Microcepha... |
OMIM:614219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Lissencephaly, Abnormally large globe, Progressive microcephaly, Hypoplasia of th... |
OMIM:615249 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Corpus callosum atrophy, Diffuse cerebral at... |
ORPHA:77299 |
Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Anophthalmia, Cystic hygroma, Arachnodactyly, Increase... |
ORPHA:261344 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Redundant neck skin, Microphthalmia, Cardiomegaly, Atrial septal defec... |
OMIM:618652 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
Trisomy 13 |
|
Ventricular septal defect, Chiari malformation, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia ... |
ORPHA:3378 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Microphthalmia, Cerebellar atrophy, Secondary microcephaly, Hypoplasi... |
OMIM:615663 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cerebellar cyst, Diffuse white matter abnormalities, Microphthalmia, Agenesis of corpus callosum,... |
ORPHA:370959 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Chiari malformation, Microphthalmia, Short finger, Primary microcepha... |
ORPHA:487825 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Small cerebral cortex, Optic nerve hypoplasia, Simplified gyral pattern, Microcep... |
OMIM:617914 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Talipes equinovarus, Microphthalmia, Microcephaly |
OMIM:612530 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Agenesis of cerebellar vermis, Pos... |
OMIM:615665 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Microcephaly |
OMIM:614082 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Deviation of finger, Spina bifida |
ORPHA:1104 |
Hartsfield Syndrome |
|
Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split hand, Aplasia/Hy... |
ORPHA:2117 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Microphthalmia, Microcephaly, Camptodactyly of finger |
OMIM:610756 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Finger syndactyly, Short toe, Short fem... |
ORPHA:93323 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Hypothalamic hamartoma, Optic nerve hypo... |
OMIM:206900 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Microphthalmia, Bowing of the long bones, Rhizomelia, Proximal placeme... |
ORPHA:93267 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Microphthalmia, Hand clenching, Long fingers, Bullet-shaped distal phalanx of the... |
ORPHA:1617 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Webbed neck, Short neck, Pachygyria, Secondary microcephaly, Lissencephaly, Agene... |
OMIM:614583 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... |
OMIM:206920 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microphthalmia, Microcephaly |
OMIM:606744 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Hand oligodactyly, Anophthalmia, Hypoplasia of the radius, Polymicrogyria, Poren... |
OMIM:156810 |
Meckel Syndrome, Type 2 |
|
Meningocele, Dandy-Walker malformation, Microphthalmia, Anencephaly, Polydactyly, Bowing of the l... |
OMIM:603194 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Cerebellar cyst, Microphthalmia, Cerebellar vermis hypoplasia, Macrocephaly, Polymic... |
OMIM:616538 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limbs, Macro... |
OMIM:300863 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Holoprosencephaly |
|
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Abnormal pulmonary valve mo... |
ORPHA:2162 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Microcephaly |
ORPHA:1131 |
Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Sub... |
OMIM:613001 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Temtamy Syndrome |
|
Genu varum, Microphthalmia, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Short toe, C... |
ORPHA:1777 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Microcephaly, Clinodactyly of the 5th finger, Polymicrogyria, Secondary microceph... |
OMIM:614222 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Neonatal death, Hydrocephalus, Postaxial hand polydactyly... |
ORPHA:85284 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Tapered finger, Long fingers, Broad neck, Short palm, Short neck, Hypoplasia of t... |
OMIM:616734 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Anencephaly, Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand... |
OMIM:611561 |
Craniofacial Microsomia |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Branchial anomaly, Hydrocephalus, Tetral... |
OMIM:164210 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Arrhinencephaly, Abnormality of the humerus, Microphthalmia, Truncus ... |
ORPHA:2538 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Microphthalmia, Colpocephaly, Optic nerve hypoplasia, Absent septum pe... |
OMIM:609053 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Monosomy 18P |
|
Microphthalmia, Holoprosencephaly, Webbed neck, Brachydactyly, Low posterior hairline, Short neck... |
ORPHA:1598 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Anophthalmia... |
OMIM:610829 |
Pierpont Syndrome |
|
Microphthalmia, Short finger, Short foot, Short palm, Short toe, Short neck, Prominent fingertip ... |
OMIM:602342 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndacty... |
OMIM:264480 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Microphthalmia, Finger syndactyly, Atrial septal defect, Cortical dysplasia |
ORPHA:261272 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
Heart And Brain Malformation Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Hand clenching, Global brai... |
OMIM:616920 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Microphthalmia, Anophthalmia, Hypoplasia of the radius, Spina bifida, Hydrocepha... |
ORPHA:3412 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Microcephaly, Split foot |
OMIM:601349 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Cerebellar vermis hypoplasia, Macrocephaly, Hydrocephalus, Postaxial hand polydacty... |
OMIM:605627 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Macrocephaly, Microphthalmia |
OMIM:615877 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Cerebellar cyst, Microphthalmia, Holoprosencephaly, Lissencephaly, Pulmon... |
OMIM:253800 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Radial deviation of finger, Pericallosal lipoma, Tetralogy of Fallot, Postaxial h... |
OMIM:136760 |
Meckel Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Anencephaly, Lobar holoprosencephaly, Anophthalmia, Si... |
ORPHA:564 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Tapered finger, Finger syndactyly, Camptodactyly, Microcephaly |
ORPHA:435938 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Microphthalmia, Webbed neck, Pulmonic stenosis, Sandal gap, Jo... |
OMIM:618914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cerebellar cyst, Microphthalmia, Partial absence of cerebellar vermis, Cerebellar dy... |
OMIM:613150 |
Marden-Walker Syndrome |
|
Dextrocardia, Dandy-Walker malformation, Microphthalmia, Talipes equinovarus, Arachnodactyly, Inf... |
OMIM:248700 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Talipes equinovarus, Humeroradial synostosis, Cystic hygroma, Simplified gyral pa... |
OMIM:251230 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the met... |
ORPHA:290 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Adducted thumb, Rocker bottom foot, Flexion contracture of toe, Dislocated radial head, Simplifie... |
OMIM:610758 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications, Delayed eruption of primary teeth |
ORPHA:90322 |
Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Rocker bottom foot, Perimembranous ventricular septal defect, Clinodactyly, Prima... |
OMIM:618804 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Abnormality of the calcaneus, Metaphyseal cupping of metacarpals, Rhizomelia, Sho... |
ORPHA:163966 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Ectopic posterior pituitary |
OMIM:610125 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Microphthalmia, Duplication of phalanx of hallux, Pachygyria, Aortic valve... |
OMIM:243310 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Syndactyly, Microphthalmia, Clinodactyly |
OMIM:610023 |
Curry-Jones Syndrome |
|
Cutaneous finger syndactyly, Microphthalmia, Megalencephaly, Hemimegalencephaly, Broad thumb, Syn... |
OMIM:601707 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Adducted thum... |
OMIM:614643 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Atrial septal defect, Cerebellar hypoplasia, Camptodactyly, Hypoplasia of the cor... |
OMIM:611961 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
Joubert Syndrome 37 |
|
Microphthalmia, Postaxial polydactyly, Broad neck, Cerebellar vermis hypoplasia, Hypoplasia of th... |
OMIM:619185 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Talipes equinovarus, Delayed eruption of teeth, Broad hallux, Aortic valve st... |
OMIM:300166 |
Mosaic Trisomy 1 |
|
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Cereb... |
ORPHA:1692 |
Joubert Syndrome 21 |
|
Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Elongated superior ... |
OMIM:615636 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly |
ORPHA:66625 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria... |
ORPHA:2328 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Abnormal heart m... |
ORPHA:453499 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos |
OMIM:608763 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Dandy-Walker malformation, Microphthalmia, Long fingers, Cerebellar vermis atrophy, Short neck, H... |
OMIM:156610 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger |
ORPHA:48431 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Anophthalmia, Single vent... |
OMIM:601186 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly |
OMIM:614105 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Microphthalmia, Aniridia, Sandal gap, Macrocephaly, Bi... |
ORPHA:251038 |
Mosaic Trisomy 9 |
|
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Talipes equin... |
ORPHA:99776 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Cerebellar vermis hypop... |
OMIM:243605 |
Adams-Oliver Syndrome |
|
Microphthalmia, Finger syndactyly, Abnormality of the metacarpal bones, Absent hand, Split hand, ... |
ORPHA:974 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect, Shortening of all distal phalanges of the fingers,... |
OMIM:619135 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Anencephaly, Talipes equinovarus, Tapered finger, Over... |
OMIM:619148 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... |
ORPHA:352665 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Colpocephaly, Absent sept... |
OMIM:309801 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Tapered finger, Branchial fistula, Webbed neck, Low po... |
ORPHA:261337 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short distal phalanx of finger |
OMIM:609166 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Microphthalmia, Hydrocephalus, Postaxial polydactyly |
OMIM:614424 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... |
ORPHA:52368 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Microphthalmia, Mitral valve prolapse, Anoph... |
ORPHA:2556 |
Charge Syndrome |
|
Dandy-Walker malformation, Bifid femur, Microphthalmia, Anophthalmia, Holoprosencephaly, Abnormal... |
ORPHA:138 |
Curry-Jones Syndrome |
|
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Finger syndactyly, Foot polydactyly... |
ORPHA:1553 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Global brain atrophy, Overlapping toe, Polymicrogyria, Secondary microcephaly, Hy... |
OMIM:614225 |
14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Short 5th metacarpal, Anophthalmia, Finger syndactyly, Anterior pituitary hypopla... |
ORPHA:264200 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the lens, Webbed neck, Low poste... |
ORPHA:85194 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Microphthalmia, Hypoplasia of the olfactory... |
ORPHA:2250 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the thumb, Absent radius, Abnormal cardiac septum morpholog... |
ORPHA:1352 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Buphthalmos, Microphthalmia, Cerebellar dysplasia, Optic nerve hypopla... |
OMIM:236670 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Moebius Syndrome |
|
Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia i... |
OMIM:157900 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Synostosis of carpal bones, Subvalvular aortic stenosis, Short neck, Membranous s... |
ORPHA:3191 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Short neck, Low posterior hairline, Bilateral microphthalmos, Cervical spina bifida |
OMIM:600122 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Microphthalmia, Postaxial polydactyly, Tapered finger, Cerebral white ... |
ORPHA:435638 |
Neu-Laxova Syndrome 1 |
|
Small placenta, Finger syndactyly, Cerebellar hypoplasia, Camptodactyly, Toe syndactyly, Ventricu... |
OMIM:256520 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short tibia, Toe syndacty... |
ORPHA:1106 |
Joubert Syndrome 2 |
|
Microphthalmia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Abnormal corp... |
OMIM:608091 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Microphthalmia, Microcephaly,... |
OMIM:234050 |
Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Microphthalmia, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
Micro Syndrome |
|
Microphthalmia, Pachygyria, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:2510 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Talipes equinovarus, Anophthalmia, Aniridia, Ulnar deviation of finger, Tricuspid valve prolapse,... |
ORPHA:1101 |
Cousin Syndrome |
|
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Hydranencephaly, Microphthalmia, 4-5 toe syn... |
OMIM:260660 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Cerebellar vermis hypoplasi... |
ORPHA:494344 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Microphthalmia, Clinodactyly of the 5th toe, Pachygyria, Atrial septal... |
OMIM:244300 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
Focal Dermal Hypoplasia |
|
Short metatarsal, Delayed eruption of teeth, Foot polydactyly, Hydrocephalus, Short phalanx of fi... |
OMIM:305600 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Branchial fistula, Ulnar deviation... |
ORPHA:261330 |
Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly, Webbed neck, Aplasia/Hypoplasia of the thumb, Finger syndactyl... |
ORPHA:1587 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia, Microcephaly |
ORPHA:2399 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microphthalmia, Talipes equinovarus, Foot polydactyly, Shor... |
ORPHA:250989 |
Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Overriding aorta, Hand polydactyly, Um... |
OMIM:214800 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Basal ganglia calcification, Delayed eruption of primary teeth |
ORPHA:90321 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Abnormal cerebral morphology, Branchial fistula |
OMIM:113650 |
Fraser Syndrome 1 |
|
Abnormal cortical gyration, Cutaneous finger syndactyly, Myelomeningocele, Anophthalmia, Abnormal... |
OMIM:219000 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Cerebellar atrophy, Microphthalmia, Microcephaly |
OMIM:610651 |
Proboscis Lateralis |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Holoprosencephaly, Optic nerve hypoplasi... |
ORPHA:141099 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Microphthalmia, Arachnodactyly, Simplified gyral pattern, Pachygyria, Hypopla... |
OMIM:617729 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
Linear Nevus Sebaceus Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplas... |
ORPHA:2612 |
Holoprosencephaly 2 |
|
Microphthalmia, Holoprosencephaly, Single ventricle, Anterior pituitary agenesis, Cerebellar hypo... |
OMIM:157170 |
Martsolf Syndrome 1 |
|
Metatarsus adductus, Slender ulna, Microphthalmia, Talipes equinovarus, Cardiomyopathy, Short met... |
OMIM:212720 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Fetal Alcohol Syndrome |
|
Biparietal narrowing, Atrial septal defect, Microphthalmia, Microcephaly |
ORPHA:1915 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Complete atrioventricular canal defect, Arrhinencephaly, Ventricular ... |
OMIM:236680 |
Mend Syndrome |
|
Dandy-Walker malformation, 2-3 toe syndactyly, Microphthalmia, Abnormal heart morphology, Long fi... |
ORPHA:401973 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Abno... |
ORPHA:2166 |
Ring Chromosome 10 Syndrome |
|
Short neck, Tapered finger, Microphthalmia, Sandal gap |
ORPHA:1438 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, Absent radius, Atrial s... |
OMIM:600123 |
Meckel Syndrome, Type 1 |
|
Foot polydactyly, Syndactyly, Hydrocephalus, Cerebellar hypoplasia, Cerebral hypoplasia, Large pl... |
OMIM:249000 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Osteolytic defects of the dist... |
ORPHA:50815 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Ventricular septal defect, 2-3 toe syndactyly, Microphthalmia, Adducted ... |
ORPHA:464738 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia |
ORPHA:83461 |
Jacobsen Syndrome |
|
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Macular hypoplasia, Clinodactyly of... |
OMIM:147791 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Fifth finger distal... |
ORPHA:2839 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Simplified gyral pattern, Microphthalmia, Microcephaly |
OMIM:152950 |
Monosomy 9Q22.3 |
|
Chiari malformation, Microphthalmia, Polydactyly, Delayed eruption of teeth, Cardiac fibroma, Hyd... |
ORPHA:77301 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... |
ORPHA:137902 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, 2-3 toe syndactyly, Microphthalmia, Postaxial polydactyly, Abnormal he... |
ORPHA:404440 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Toe syndactyly, Microphthalmia, Talipes equinov... |
OMIM:100300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Abnormal heart morphology, Inferior vermis hypoplasia, Short neck, Overlapping toe |
OMIM:618571 |
Phace Syndrome |
|
Dandy-Walker malformation, Lens coloboma, Microphthalmia, Abnormal heart morphology, Optic nerve ... |
ORPHA:42775 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Camptodactyly of finger, Cerebral hypopl... |
ORPHA:468631 |
Trisomy 18 |
|
Ventricular septal defect, Chiari malformation, Microphthalmia, Anencephaly, Holoprosencephaly, W... |
ORPHA:3380 |
Galloway-Mowat Syndrome 1 |
|
Dandy-Walker malformation, Cerebellar atrophy, Microphthalmia, Hypoplasia of the iris, Talipes eq... |
OMIM:251300 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Abnorm... |
ORPHA:251014 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Short neck, Microphthalmia, Hydrocephalus |
OMIM:614083 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Foo... |
ORPHA:3186 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Agenesis of corpus callosum, Agenesis of cerebellar vermis |
ORPHA:228390 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Symphalangism affecting the phalanges of the hand, Microphthalmia, Camptodactyly of finger |
ORPHA:2547 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia, Microcephaly |
ORPHA:1942 |
Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/... |
ORPHA:2788 |
Microphthalmia, Syndromic 6 |
|
Toe syndactyly, Short middle phalanx of finger, Microphthalmia, Anterior hypopituitarism, Polydac... |
OMIM:607932 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Microphthalmia, Mitral valve prolapse, Hammertoe, Delayed eruption of teeth, ... |
ORPHA:2712 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Broad hallux, Ventricular septal d... |
ORPHA:508498 |
Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Hydrocephalus, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Tetraamelia-Multiple Malformations Syndrome |
|
Agenesis of corpus callosum, Microphthalmia, Hydrocephalus, Septo-optic dysplasia |
ORPHA:3301 |
Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Spina bifida occulta, Microphthalmia |
OMIM:169550 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Microphthalmia, Foot polydactyly, Hydrocephalus, Short palm, Agenesis ... |
ORPHA:268249 |
Fryns Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Thickened nuchal skin fold, Clinodactyly of the 5th fi... |
ORPHA:2059 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Ventricular septal defect, Microphthalmia, Mesoaxial hand polydactyly, Oligodacty... |
OMIM:146510 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Microcephaly |
ORPHA:2728 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Webbed neck, Delayed eruption of teeth, Finger syndactyly, Complete duplication o... |
ORPHA:568 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Atrial septal defect, Microphthalmia, Brachydactyly |
OMIM:614526 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Hemiatro... |
ORPHA:163649 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Microphthalmia, Polydactyly, Short distal phalanx of the thumb, Brachydactyl... |
OMIM:109400 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Microphthalmia |
OMIM:617306 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Abnormal heart morphology, Complete duplication of thumb phalanx, Absent radius, ... |
OMIM:227646 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Micr... |
OMIM:304050 |
Holoprosencephaly 7 |
|
Macrocephaly, Hydrocephalus, Panhypopituitarism, Alobar holoprosencephaly, Bilateral microphthalm... |
OMIM:610828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of the retina, Pac... |
OMIM:253280 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Atrial septal defect, Microphthalmia, Microcephaly |
ORPHA:2526 |
Subaortic Stenosis--Short Stature Syndrome |
|
Microphthalmia, Broad finger, Broad toe, Small hand, Subvalvular aortic stenosis, Short foot, Sho... |
OMIM:271960 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly, Abnormal heart morphology, Aplasia/Hypoplasia of the thumb, Hy... |
OMIM:184705 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Agenesis of cerebellar vermis, Anophthalmia, Proximal placement of thumb, Branchi... |
OMIM:113620 |
Yunis-Varon Syndrome |
|
Arrhinencephaly, Redundant neck skin, Short middle phalanx of finger, Syndactyly, Hydrocephalus, ... |
ORPHA:3472 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Global brain atrophy, Small hand, Frontal cortical atrophy, Short foot, Aplasia/H... |
ORPHA:2714 |
Holoprosencephaly 1 |
|
Microphthalmia, Single ventricle, Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly, ... |
OMIM:236100 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse, Adducted thumb, Unilateral microphthalmos, Polymicrogyria, Macrocephaly, M... |
OMIM:618874 |
Mosaic Variegated Aneuploidy Syndrome |
|
Dandy-Walker malformation, Microphthalmia, Holoprosencephaly, Subvalvular aortic stenosis, Aplasi... |
ORPHA:1052 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Microcephaly |
ORPHA:2505 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Clinodactyly, Short neck, Syndactyly, Campt... |
ORPHA:369891 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Dandy-Walker malformation, Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, ... |
OMIM:302960 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Tapered finger, Subvalvular aortic stenosis, Macrocephaly, Clinodactyly of the 5t... |
ORPHA:65286 |
Fraser Syndrome |
|
Toe syndactyly, Microphthalmia, Myelomeningocele, Anophthalmia, Finger syndactyly, Umbilical hern... |
ORPHA:2052 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Microcephaly |
ORPHA:891 |
Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hypoplasia of olfactory tract |
ORPHA:1791 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, 2-3 finger syndactyly, Hypoplasia of the radius, Atrial septal defect, Short thum... |
OMIM:603467 |
Bartsocas-Papas Syndrome 2 |
|
Absent distal phalanges, Small hand, Microphthalmia |
OMIM:619339 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Truncus arteriosus, Global brain atrophy, Finger clinodactyly, Short femur, Ventr... |
ORPHA:508488 |
Phace Association |
|
Dandy-Walker malformation, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia, Cer... |
OMIM:606519 |
Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Microphthalmia, Metaphyseal widening, Phthisis bulbi, Microcephaly |
OMIM:259770 |
Norrie Disease |
|
Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... |
OMIM:600901 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Aplasia of metacarpal bones, Microphthalmia, Triphalangeal thumb, Opti... |
OMIM:607323 |
Frontorhiny |
|
Microphthalmia, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of ... |
ORPHA:391474 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... |
OMIM:227650 |
Teebi-Shaltout Syndrome |
|
Metatarsus adductus, Ventricular septal defect, Microphthalmia, Talipes equinovarus, Rocker botto... |
OMIM:272950 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Dandy-Walker malformation, Microphthalmia, Postaxial polydactyly, Rhizomelia, Preaxial polydactyl... |
OMIM:616300 |
Refsum Disease |
|
Short metacarpal, Microphthalmia, Cardiomyopathy, Hammertoe |
ORPHA:773 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly, Brachydactyly, Prominent fingertip pads, Short palm |
ORPHA:466950 |
Frontonasal Dysplasia 3 |
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Microphthalmia |
OMIM:613456 |
Fryns Syndrome |
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Dandy-Walker malformation, Ventricular septal defect, Arrhinencephaly, Microphthalmia, Rocker bot... |
OMIM:229850 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... |
OMIM:609945 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Cohen Syndrome |
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Ventricular septal defect, Mitral valve prolapse, Microphthalmia, Tapered finger, Arachnodactyly,... |
ORPHA:193 |
Anterior Segment Dysgenesis 5 |
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Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Microphthalmia |
ORPHA:363741 |
8Q21.11 Microdeletion Syndrome |
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Microphthalmia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of fi... |
ORPHA:284160 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Congenital Fibrinogen Deficiency |
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Left ventricular hypertrophy, Clubbing of fingers, Right ventricular hypertrophy, Microphthalmia |
ORPHA:335 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
Cat Eye Syndrome |
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Abnormal heart morphology, Total anomalous pulmonary venous return, Microphthalmia, Absent radius |
OMIM:115470 |
Microphthalmia, Isolated 8 |
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Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Hypertrophic cardiomyopathy, Microphthalmia |
OMIM:619053 |
Oculodentodigital Dysplasia |
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Microphthalmia, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, 4-5 finger syndactyly... |
OMIM:164200 |
Histiocytoid Cardiomyopathy |
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Ventricular septal defect, Microphthalmia, Congenital aphakia, Cardiomegaly, Cerebellar malformat... |
ORPHA:137675 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Microphthalmia |
OMIM:269400 |
Oligomeganephronia |
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Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Ventricular septal defect, Microphthalmia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, ... |
OMIM:616975 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Optic nerve hypoplasia, Broad proximal phalanges of the hand, Short foot, Bilateral microphthalmos |
OMIM:607597 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Focal Dermal Hypoplasia |
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Toe syndactyly, Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Finger syndact... |
ORPHA:2092 |
Fanconi Anemia |
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Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia/Hypoplasia o... |
ORPHA:84 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Treacher-Collins Syndrome |
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Branchial fistula, Microphthalmia |
ORPHA:861 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Aicardi Syndrome |
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Partial agenesis of the corpus callosum, Microphthalmia, Small hand, Pachygyria, Aplasia/Hypoplas... |
ORPHA:50 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Otodental Syndrome |
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Lens coloboma, Microphthalmia, Delayed eruption of teeth |
ORPHA:2791 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... |
ORPHA:2334 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Small hand, Natal tooth, Short foot, Cerebellar hypoplasia, Clinodactyly of the 5... |
ORPHA:2108 |
Roberts Syndrome |
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Microphthalmia, Patellar aplasia, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Meso... |
ORPHA:3103 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia, Microcephaly |
OMIM:278730 |
Fanconi Anemia, Complementation Group C |
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Ventricular septal defect, Microphthalmia, Absent radius, Complete duplication of thumb phalanx, ... |
OMIM:227645 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Microphthalmia, 3-4 toe syndactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Clino... |
OMIM:618727 |
Exudative Vitreoretinopathy 2, X-Linked |
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Microphthalmia |
OMIM:305390 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Microphthalmia, Fifth finger distal phalanx clinodactyly, Small hand, Delayed eruption of teeth, ... |
OMIM:257850 |
Cockayne Syndrome B |
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Microphthalmia, Normal pressure hydrocephalus, Hypoplasia of the iris, Ivory epiphyses of the pha... |
OMIM:133540 |
Acro-Renal-Ocular Syndrome |
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Short hallux, Broad hallux phalanx, Toe syndactyly, Microphthalmia, Triphalangeal thumb, Radial c... |
ORPHA:959 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia, Tapered finger, Camptodactyly of finger, Broad thumb, Microcephaly |
ORPHA:1236 |
Incontinentia Pigmenti |
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Microphthalmia, Delayed eruption of teeth, Finger syndactyly, Deviation of finger, Abnormal hand ... |
ORPHA:464 |
Momo Syndrome |
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Large hands, Delayed eruption of teeth, Bilateral microphthalmos, Macrocephaly, Femoral bowing, S... |
ORPHA:2563 |
Trichothiodystrophy |
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Partial agenesis of the corpus callosum, Ventricular septal defect, Diffuse cerebellar atrophy, C... |
ORPHA:33364 |
Myhre Syndrome |
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Ventricular septal defect, 2-3 toe syndactyly, Microphthalmia, Pericardial effusion, Short finger... |
OMIM:139210 |
Anterior Segment Dysgenesis 2 |
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Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia |
OMIM:610256 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Complete atrioventricular canal defect, Microphthalmia, Postaxial polydactyly, Neonatal death, Fi... |
OMIM:617925 |
Pallister-Hall Syndrome |
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Abnormal prolactin level, Arrhinencephaly, Polydactyly affecting the 4th finger, Broad toe, Mesoa... |
ORPHA:672 |
Fontaine Progeroid Syndrome |
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Bicuspid aortic valve, Microphthalmia, Abnormal heart morphology, Neonatal death, Absent distal p... |
OMIM:612289 |
Trichothiodystrophy 1, Photosensitive |
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Microphthalmia, Microcephaly |
OMIM:601675 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Metaphyseal widening, Spina bifida, Natal tooth, Microcephaly |
OMIM:234100 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia, Bowing of the legs, Bowing of the long bones, Metaphyseal irregularity, Rhizomeli... |
ORPHA:85167 |
22Q11.2 Deletion Syndrome |
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Meningocele, Arrhinencephaly, Ventricular septal defect, Microphthalmia, Occipital myelomeningoce... |
ORPHA:567 |
Trisomy 10P |
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Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Monosomy 9P |
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Microphthalmia, Webbed neck, Proximal placement of thumb, Abnormality of the tarsal bones, Postax... |
ORPHA:261112 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Microcephaly, Aplasia of the dis... |
ORPHA:364577 |
Dubowitz Syndrome |
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Microphthalmia, Hypoplasia of the iris, Delayed eruption of teeth, Syndactyly, Clinodactyly of th... |
OMIM:223370 |
Rodrigues Blindness |
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Microphthalmia |
OMIM:268320 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Cerebellar atrophy, Microphthalmia, Hypoplasia of the iris, Schizencephaly, Leukoencephalopathy, ... |
OMIM:175780 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Microphthalmia |
ORPHA:231736 |
Vitreoretinochoroidopathy |
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Microphthalmia |
OMIM:193220 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Microphthalmia, Pericallosal lipoma, Tetralogy of Fallot, Camptodactyly of finger, Finger clinoda... |
ORPHA:306542 |
Kenny-Caffey Syndrome, Type 2 |
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Basal ganglia calcification, Macrocephaly, Microphthalmia, Abnormality of the medullary cavity of... |
OMIM:127000 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Microphthalmia, Short finger, Aplasia of the distal phalanx of the 5th... |
OMIM:608670 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Mogs-Cdg |
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Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Microphthalmia, Hypoplasia of the fovea, Microcephaly |
OMIM:308300 |
Microphthalmia, Syndromic 1 |
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Bicuspid aortic valve, Microphthalmia, Anophthalmia, Webbed neck, Radial deviation of finger, Syn... |
OMIM:309800 |
Cockayne Syndrome Type 3 |
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Microphthalmia, Cerebral white matter atrophy, Cardiomyopathy, Subcortical white matter calcifica... |
ORPHA:90324 |
Microphthalmia, Isolated, With Coloboma 9 |
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Microphthalmia |
OMIM:615145 |
Nance-Horan Syndrome |
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Broad finger, Short phalanx of finger, Microphthalmia |
OMIM:302350 |
X-Linked Dominant Chondrodysplasia Punctata |
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Microphthalmia, Talipes equinovarus |
ORPHA:35173 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Hallux valgus, Agenesis of cerebellar vermis, Delayed eruption of teeth, S... |
ORPHA:261537 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Chiari malformation, Microphthalmia, Triphalangeal thumb, A... |
ORPHA:857 |
Cockayne Syndrome A |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Microphthalmia, Hand oligodactyly, Stillbirth, Cystic hygroma, Abnorma... |
OMIM:268300 |
Oculoauricular Syndrome |
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Microphthalmia, Microphakia, Phthisis bulbi, Macular hypoplasia, Spina bifida occulta |
OMIM:612109 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Microphthalmia, Synostosis of the proximal phalanx of the thumb with t... |
OMIM:309500 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Microphthalmia, Large basal ganglia, Abnormal heart morphology, Abnorm... |
OMIM:235730 |
Cockayne Syndrome |
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Cerebellar atrophy, Microphthalmia, Cerebral calcification, Primary microcephaly, Subcortical whi... |
ORPHA:191 |
Witteveen-Kolk Syndrome |
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Toe syndactyly, Microphthalmia, Dysplastic corpus callosum, Proximal placement of thumb, Arachnod... |
OMIM:613406 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Postnatal macrocephaly, Thin long bone diaphyses, Ste... |
ORPHA:93325 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Ectodermal Dysplasia-Blindness Syndrome |
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Microphthalmia |
ORPHA:1806 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Hallux valgus, Agenesis of cerebellar vermis, Delayed eruption of teeth, S... |
ORPHA:261552 |
Degcags Syndrome |
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Toe syndactyly, Ventricular septal defect, Microphthalmia, Polydactyly, Talipes equinovarus, Pulm... |
OMIM:619488 |
Bartsocas-Papas Syndrome 1 |
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Microphthalmia, Talipes equinovarus, Limb undergrowth, Ulnar bowing, Absent radius, Short metacar... |
OMIM:263650 |
Papillorenal Syndrome |
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Microphthalmia |
OMIM:120330 |
Rothmund-Thomson Syndrome, Type 2 |
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Microphthalmia, Talipes equinovarus, Small hand, Delayed eruption of teeth, Short foot, Short thu... |
OMIM:268400 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia |
OMIM:601552 |
Neuroocular Syndrome |
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Lens coloboma, Microphthalmia, Hypoplasia of the fovea, Hyperextensibility of the finger joints, ... |
OMIM:619539 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Hallux valgus, Agenesis of cerebellar vermis, Delayed eruption of teeth, S... |
ORPHA:2152 |
Persistent Hyperplastic Primary Vitreous |
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Macular hypoplasia, Buphthalmos, Phthisis bulbi, Microphthalmia |
ORPHA:91495 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Phthisis bulbi, Microphthalmia |
OMIM:221900 |
Acrofrontofacionasal Dysostosis 1 |
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Broad thumb, Short metacarpal, Microphthalmia, Short distal phalanx of finger |
OMIM:201180 |
Norrie Disease |
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Microphthalmia, Abnormality of the diencephalon, Aplasia/Hypoplasia of the lens, Hypoplasia of th... |
ORPHA:649 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Hydrocephalus |
OMIM:273395 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Oculocerebrorenal Syndrome Of Lowe |
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Buphthalmos, Microphthalmia, Abnormality of the metaphysis, Delayed eruption of teeth, Genu valgu... |
ORPHA:534 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Periventricular cysts, Genu valgum, Camptodactyly of finger, Finger swelling |
OMIM:309000 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia |
OMIM:603457 |
Frontofacionasal Dysplasia |
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Microphthalmia |
OMIM:229400 |
Treacher Collins Syndrome 1 |
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Abnormal heart morphology, Bilateral microphthalmos |
OMIM:154500 |