Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:85275 |
Orofacial Cleft 11 |
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Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
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Cleft palate |
OMIM:119550 |
Anencephaly 2 |
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Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia |
OMIM:619452 |
Microphthalmia/Coloboma 5 |
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Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Fryns Microphthalmia Syndrome |
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Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia |
OMIM:600776 |
Microphthalmia, Isolated 1 |
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Anophthalmia, Microphthalmia |
OMIM:251600 |
Megaepiphyseal Dwarfism |
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Severe short stature, Short stature, Cleft palate |
OMIM:249230 |
Orofacial Cleft 10 |
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Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Microphthalmia/Coloboma 10 |
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Anophthalmia, Microphthalmia |
OMIM:616428 |
Palatopharyngeal Incompetence |
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Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 5 |
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Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
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Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
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Cleft palate, Cleft upper lip |
OMIM:119530 |
2q33.1 deletion syndrome |
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Short stature, High palate, Cleft palate |
DECIPHER:51 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
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Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Congenital Laryngomalacia |
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Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
Facial Clefting, Oblique, 1 |
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Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:600251 |
Microphthalmia, Syndromic 12 |
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Intestinal malrotation, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:615524 |
Microphthalmia, Syndromic 16 |
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Anophthalmia, Microphthalmia |
OMIM:611038 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
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Cleft palate, Cleft upper lip |
OMIM:106250 |
Maternal Hyperthermia-Induced Birth Defects |
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Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye, Cleft palate |
ORPHA:2216 |
Pierre Robin Syndrome |
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Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
Pierre Robin Syndrome And Oligodactyly |
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Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Anophthalmia Plus Syndrome |
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Tessier cleft, Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Cleft pa... |
ORPHA:1104 |
Isolated Pierre Robin Syndrome |
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Glossoptosis, Cleft palate |
ORPHA:718 |
Cleft Palate, Isolated |
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Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
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Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Cleft palate, Microphthalmia |
OMIM:164180 |
Cerebrooculonasal Syndrome |
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Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... |
ORPHA:66625 |
Van Der Woude Syndrome 1 |
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Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Meckel Syndrome, Type 8 |
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Cleft upper lip, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:613885 |
Microphthalmia, Isolated 8 |
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True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
Cerebrooculofacioskeletal Syndrome 3 |
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Intrauterine growth retardation, Cleft palate, Microphthalmia |
OMIM:616570 |
Solitary Median Maxillary Central Incisor |
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Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Solitary median maxillary central ... |
OMIM:147250 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:120433 |
Hydrolethalus |
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Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Mic... |
ORPHA:2189 |
Microphthalmia, Syndromic 5 |
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Anophthalmia, Microphthalmia, Short stature, Cleft palate, Optic nerve hypoplasia |
OMIM:610125 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor... |
ORPHA:411986 |
Trisomy 13 |
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High, narrow palate, Abnormality of the dentition, Long philtrum, Intrauterine growth retardation... |
ORPHA:3378 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip |
OMIM:137215 |
Microphthalmia, Syndromic 11 |
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Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:614402 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
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Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d... |
OMIM:619602 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Short stature, Cleft ... |
OMIM:611867 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
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Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
Lowry-Maclean Syndrome |
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Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Van Der Woude Syndrome 2 |
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Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
Weaver-Williams Syndrome |
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Narrow mouth, Cleft palate |
ORPHA:3448 |
Microphthalmia With Limb Anomalies |
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Cleft upper lip, Postnatal growth retardation, Anophthalmia, Deep philtrum, Microphthalmia, High ... |
OMIM:206920 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Microphthalmia, Syndromic 8 |
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Cleft upper lip, Orofacial cleft, Microphthalmia, Widely-spaced maxillary central incisors, Cleft... |
OMIM:601349 |
Van Der Woude Syndrome |
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Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Cockayne Syndrome Type 2 |
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Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, An... |
ORPHA:90322 |
Oculotrichoanal Syndrome |
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Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Matthew-Wood Syndrome |
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Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Abnormal anterior horn cell morphology, Cerebral atrophy, Neonatal death, Microcephaly, Paucity o... |
OMIM:611890 |
Holzgreve Syndrome |
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Cleft palate, Cleft upper lip |
OMIM:236110 |
Cleft Lip/Palate |
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Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... |
ORPHA:199306 |
Trochlea Of The Humerus, Aplasia Of |
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Cleft palate |
OMIM:191000 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Microphthalmia, High palate, Cleft palate, Tooth agenesis |
ORPHA:1135 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Microphthalmia, Growth delay |
ORPHA:77298 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Bifid uvula, Cleft palate |
OMIM:258320 |
Microphthalmia With Brain And Digit Anomalies |
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High palate, Anophthalmia, Microphthalmia |
ORPHA:139471 |
Radius, Aplasia Of, With Cleft Lip/Palate |
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Cleft palate, Cleft upper lip |
OMIM:179400 |
Lissencephaly 7 With Cerebellar Hypoplasia |
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Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal deat... |
OMIM:616342 |
Joubert Syndrome 15 |
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Exencephaly |
OMIM:614464 |
Cerebrooculonasal Syndrome |
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Narrow palate, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Anophtha... |
OMIM:605627 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Anophthalmia, Submucous c... |
ORPHA:2250 |
Hartsfield Syndrome |
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Intrauterine growth retardation, Non-midline cleft of the upper lip, Cleft palate, Microphthalmia |
ORPHA:2117 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Pachygyria, Colpocephaly, Neonatal death |
OMIM:614870 |
Oculopalatocerebral Syndrome |
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Short stature, Cleft palate, Microphthalmia |
OMIM:257910 |
Walker-Warburg Syndrome |
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Bifid uvula, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Cleft palate |
ORPHA:899 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
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Lip pit, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1072 |
Braddock-Carey Syndrome 2 |
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Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence |
OMIM:619981 |
Tetraploidy |
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Intrauterine growth retardation, Short philtrum, Aplasia/Hypoplasia affecting the eye, Cleft palate |
ORPHA:3305 |
Trisomy 1Q |
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Anal atresia, Narrow mouth, Anophthalmia, Cleft palate |
ORPHA:261344 |
Manitoba Oculotrichoanal Syndrome |
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Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
OMIM:248450 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Hydranencephaly, Hypoplasia of the brainstem, Neonatal death, Cerebellar hypoplasia, Stillbirth, ... |
OMIM:236500 |
Cockayne Syndrome Type 1 |
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Abnormality of the dentition, Widely spaced primary teeth, Postnatal growth retardation, Hypoplas... |
ORPHA:90321 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Rhizomelia, Anophthalmia, Long philtrum, Microphthalmia |
OMIM:615877 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Neonatal death, Macrocephaly |
OMIM:612138 |
Vacterl With Hydrocephalus |
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Intrauterine growth retardation, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Mic... |
ORPHA:3412 |
Holoprosencephaly 9 |
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Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thick lower lip vermilion, Ano... |
OMIM:610829 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Frontonasal Dysplasia 3 |
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Tessier cleft, Cleft palate, Microphthalmia |
OMIM:613456 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neonatal death |
OMIM:257100 |
Pulmonary Hypoplasia, Primary |
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Neonatal death |
OMIM:265430 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Microgastria-Limb Reduction Defect Syndrome |
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Microgastria, Intestinal malrotation, Esophagitis, Anophthalmia, Perineal fistula, Hiatus hernia,... |
ORPHA:2538 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
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Cerebellar hypoplasia, Neonatal death |
OMIM:615228 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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High, narrow palate, Aniridia, Anophthalmia, Long philtrum |
ORPHA:1101 |
Microphthalmia, Syndromic 9 |
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Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... |
OMIM:601186 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death |
OMIM:226735 |
Meckel Syndrome, Type 2 |
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Intestinal malrotation, Intrauterine growth retardation, Cleft palate, Microphthalmia |
OMIM:603194 |
Meckel Syndrome, Type 5 |
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Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:611561 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Esophageal atresia, Microphthalm... |
OMIM:206900 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Widely spaced teeth, Postnatal growth retardation, Intrauterine growth retardation, Microdontia, ... |
ORPHA:2728 |
Holoprosencephaly |
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Tooth agenesis, Median cleft palate, Anophthalmia, Median cleft upper lip, Bilateral cleft lip, S... |
ORPHA:2162 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Secondary microcephaly, Death in infancy, Cerebellar hypoplasia, Neonatal death |
OMIM:613730 |
Combined Oxidative Phosphorylation Deficiency 21 |
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Hypoplasia of the corpus callosum, Cerebral atrophy, Neonatal death |
OMIM:615918 |
Diaphragmatic Hernia 5, X-Linked |
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Neonatal death |
OMIM:306950 |
Stuve-Wiedemann Syndrome 2 |
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Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate |
ORPHA:2736 |
Microphthalmia, Syndromic 2 |
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Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... |
OMIM:300166 |
Microphthalmia With Limb Anomalies |
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Long philtrum, Cleft upper lip, Macrodontia, True anophthalmia, Microphthalmia, Thin vermilion bo... |
ORPHA:1106 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Short stature, Downturned corners of mouth, Anophthalmia |
ORPHA:264200 |
Meckel Syndrome |
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Aplasia/Hypoplasia of the tongue, Furrowed tongue, Anophthalmia, Aplasia/Hypoplasia of the iris, ... |
ORPHA:564 |
Charge Syndrome |
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Delayed eruption of teeth, Cleft upper lip, Postnatal growth retardation, Intrauterine growth ret... |
ORPHA:138 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Bresek Syndrome |
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Neonatal death, Microcephaly, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:85284 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Severe short stature, Long philtrum, Thick vermilion border, Anophthalmia, Microphthalmia |
ORPHA:2526 |
Fraser Syndrome 1 |
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Tessier cleft, Dental crowding, Dental malocclusion, Cleft upper lip, Bilateral microphthalmos, A... |
OMIM:219000 |
Proboscis Lateralis |
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Long philtrum, Anophthalmia, Orofacial cleft, Agenesis of canine, Microphthalmia, High palate, Op... |
ORPHA:141099 |
Focal Dermal Hypoplasia |
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Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly placed anus, Intestin... |
OMIM:305600 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Microphthalmia With Linear Skin Defects Syndrome |
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Severe short stature, Abnormal dental enamel morphology, Abnormal rectum morphology, Anophthalmia... |
ORPHA:2556 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Temporal lobe dysplasia, Hydrocephalus, Macrocephaly, Gray matter heterotopia |
OMIM:187600 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Cerebral cortical atrophy, Death in childhood, Hypoplasia of the corpus callosum, Neonatal death,... |
OMIM:614922 |
Fraser Syndrome |
|
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Anophthalmia, Orofacial cle... |
ORPHA:2052 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebral calcificat... |
OMIM:620024 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Branchiooculofacial Syndrome |
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Abnormality of the dentition, Cleft upper lip, Postnatal growth retardation, Intrauterine growth ... |
OMIM:113620 |
Microcephaly-Micromelia Syndrome |
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Aplasia/Hypoplasia of the corpus callosum, Neonatal death, Microcephaly, Aqueductal stenosis, Sim... |
OMIM:251230 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Anophthalmia, Aganglion... |
OMIM:309800 |
Microphthalmia, Syndromic 6 |
|
Bifid uvula, Microglossia, Anophthalmia, Microphthalmia, High palate, Cleft palate |
OMIM:607932 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Neonatal death |
OMIM:619334 |
Charge Syndrome |
|
Anal stenosis, Cleft upper lip, Postnatal growth retardation, Unilateral microphthalmos, Anophtha... |
OMIM:214800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Microcephaly, Occipital encephalocele, Neonatal death |
OMIM:224410 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Molybdenum Cofactor Deficiency, Type C |
|
Cerebellar hypoplasia, Neonatal death, Hypoplasia of the pons, Polymicrogyria |
OMIM:615501 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum, Neonata... |
OMIM:618500 |
Afibrinogenemia, Congenital |
|
Death in adolescence, Death in childhood, Death in infancy, Neonatal death |
OMIM:202400 |
Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Craniofacial Microsomia 1 |
|
Cleft upper lip, Anophthalmia, Microphthalmia, Wide mouth, Cleft palate, Transverse facial cleft |
OMIM:164210 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Neonatal death, Primary micr... |
OMIM:256520 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |