Maturity-Onset Diabetes Of The Young, Type 7 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Anencephaly 2 |
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Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
Orofacial Cleft 11 |
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Cleft lip, Cleft palate |
OMIM:600625 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Syngnathia |
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Cleft palate |
OMIM:119550 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Edema, Familial Idiopathic, Prepubertal |
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Irritability, Diabetes mellitus |
OMIM:129840 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
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 |
Orofacial Cleft 10 |
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Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Pierre Robin Syndrome And Oligodactyly |
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Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
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Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate |
OMIM:164180 |
Meckel Syndrome, Type 8 |
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Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:613885 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
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Cleft palate, Cleft upper lip |
OMIM:106250 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Congenital Laryngomalacia |
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Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Facial Clefting, Oblique, 1 |
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Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Cleft Palate-Lateral Synechia Syndrome |
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Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Cleft Palate, Isolated |
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Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Hydrolethalus |
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Anophthalmia, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft palate, Unilateral ... |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
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Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... |
ORPHA:411986 |
Van Der Woude Syndrome 1 |
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Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
Trisomy 13 |
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Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Cleft palate, ... |
ORPHA:3378 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Microphthalmia, Syndromic 11 |
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Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Microphthalmia, Syndromic 8 |
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Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... |
OMIM:601349 |
Van Der Woude Syndrome 2 |
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Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia |
OMIM:206920 |
Oculotrichoanal Syndrome |
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Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
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Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Van Der Woude Syndrome |
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Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
Cockayne Syndrome Type 2 |
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Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p... |
ORPHA:90322 |
Cerebrooculonasal Syndrome |
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Encephalocele, Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corn... |
OMIM:605627 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Tooth agenesis, Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Walker-Warburg Syndrome |
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Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:899 |
Trisomy 1Q |
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Anal atresia, Anophthalmia, Cleft palate, Narrow mouth |
ORPHA:261344 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula |
ORPHA:77298 |
Manitoba Oculotrichoanal Syndrome |
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Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Trochlea Of The Humerus, Aplasia Of |
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Cleft palate |
OMIM:191000 |
Radius, Aplasia Of, With Cleft Lip/Palate |
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Cleft palate, Cleft upper lip |
OMIM:179400 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental malocclusion, ... |
OMIM:610829 |
Meckel Syndrome, Type 5 |
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Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611561 |
Matthew-Wood Syndrome |
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Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
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Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Anophthalmia, High, narrow palate, Long philtrum, Aniridia, Umbilical hernia |
ORPHA:1101 |
Cockayne Syndrome Type 1 |
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Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... |
ORPHA:90321 |
Holoprosencephaly |
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Encephalocele, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, ... |
ORPHA:2162 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia, Long philtrum |
OMIM:615877 |
Vacterl With Hydrocephalus |
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Anophthalmia, Spina bifida, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal a... |
ORPHA:3412 |
Microgastria-Limb Reduction Defect Syndrome |
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Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe... |
ORPHA:2538 |
Meckel Syndrome |
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Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Anencephaly, Cleft palate, Furrowe... |
ORPHA:564 |
Oculopalatocerebral Syndrome |
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Microphthalmia, Cleft palate |
OMIM:257910 |
Fraser Syndrome |
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Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Myelomeningocele, D... |
ORPHA:2052 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Supernumerary tooth, Submu... |
OMIM:300166 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia |
OMIM:206900 |
Fraser Syndrome 1 |
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Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li... |
OMIM:219000 |
Microphthalmia With Limb Anomalies |
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Macrodontia, Cleft upper lip, Cleft palate, Thin vermilion border, High palate, Long philtrum, Mi... |
ORPHA:1106 |
Fibular Hemimelia |
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Anophthalmia, Spina bifida |
ORPHA:93323 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Focal Dermal Hypoplasia |
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Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ... |
OMIM:305600 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil... |
ORPHA:141099 |
14Q22Q23 Microdeletion Syndrome |
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Downturned corners of mouth, Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum |
ORPHA:2526 |
Charge Syndrome |
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Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Trache... |
ORPHA:138 |
Joubert Syndrome 21 |
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Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Abnormal dental enamel morphology, Abnormal rectum morphology, Microphthalmia, Abno... |
ORPHA:2556 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Charge Syndrome |
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Anal stenosis, Anophthalmia, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Unil... |
OMIM:214800 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,... |
OMIM:113620 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... |
OMIM:309800 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Wide mouth, Branchial anoma... |
OMIM:164210 |
Liver Disease, Severe Congenital |
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Short attention span, Irritability, Hyperinsulinemic hypoglycemia |
OMIM:619991 |