Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
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Abnormality of the spleen |
OMIM:191150 |
Regional Odontodysplasia |
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Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
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 |
Microphthalmia, Syndromic 12 |
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Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Microphthalmia, Retrognathia |
OMIM:615524 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Anencephaly 2 |
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Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge |
OMIM:619452 |
Amelogenesis Imperfecta, Type Ij |
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Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Cryptorchidism, Anophthalmia, Cleft palate |
OMIM:164180 |
Cockayne Syndrome Type 2 |
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Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Cryptorchid... |
ORPHA:90322 |
Hydrolethalus |
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Anophthalmia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft pa... |
ORPHA:2189 |
Matthew-Wood Syndrome |
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Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... |
ORPHA:2470 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
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 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Otodental Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Cerebrooculonasal Syndrome |
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Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Dentinogenesis Imperfecta |
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Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Ceroid storage disease |
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Abnormality of the spleen |
OMIM:214200 |
Amelogenesis Imperfecta, Type Ia |
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Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Florid Cemento-Osseous Dysplasia |
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Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Meckel Syndrome, Type 8 |
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Microphthalmia, Anophthalmia, Cleft palate, Cleft upper lip |
OMIM:613885 |
Otodental Dysplasia |
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Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Trisomy 13 |
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Anophthalmia, Median cleft lip, Abnormality of the dentition, Cryptorchidism, High, narrow palate... |
ORPHA:3378 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Isolated Anencephaly |
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Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Amelogenesis Imperfecta, Type Ic |
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Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dentin Dysplasia, Type Ii |
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Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ih |
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Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Holoprosencephaly 9 |
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Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Amelogenesis Imperfecta, Type Iiia |
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Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
Gracile Bone Dysplasia |
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Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Anophthalmia Plus Syndrome |
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Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Cockayne Syndrome Type 1 |
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Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Abnormality... |
ORPHA:90321 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, High palat... |
OMIM:206920 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
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Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
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Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type If |
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Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Cryptorchidism, Anophthalmia, High palate |
ORPHA:139471 |
Amelogenesis Imperfecta, Type Iv |
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Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ie |
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Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypo... |
OMIM:601186 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... |
ORPHA:2250 |
Meckel Syndrome |
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Accessory spleen, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognath... |
ORPHA:564 |
Trisomy 1Q |
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Microretrognathia, Anophthalmia, Cryptorchidism, Cleft palate, Narrow mouth |
ORPHA:261344 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Microretrognathia, Hypoplastic spleen |
ORPHA:89844 |
Amelo-Onycho-Hypohidrotic Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Walker-Warburg Syndrome |
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Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:899 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa... |
OMIM:612714 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Cryptorchidism, Anophthalmia |
ORPHA:77298 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow pala... |
ORPHA:1101 |
Holoprosencephaly |
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Anophthalmia, Median cleft lip, Bilateral cleft lip, Cryptorchidism, Abnormality of the spleen, D... |
ORPHA:2162 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H... |
OMIM:605627 |
Proteus-Like Syndrome |
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Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Osteopetrosis, Autosomal Recessive 2 |
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Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Vacterl With Hydrocephalus |
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Anophthalmia, Micrognathia, Cryptorchidism, Microphthalmia, Retrognathia |
ORPHA:3412 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Joubert Syndrome 21 |
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Splenomegaly, Anophthalmia, Chronic sinusitis |
OMIM:615636 |
Oslam Syndrome |
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Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Micrognathia, Cryptorchidism, D... |
ORPHA:264200 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly |
ORPHA:2538 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Cryptorchidism, Supernumer... |
OMIM:300166 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia, Long philtrum |
OMIM:615877 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor... |
OMIM:206900 |
Proboscis Lateralis |
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Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... |
ORPHA:141099 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Fibular Hemimelia |
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Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Fraser Syndrome 1 |
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Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, Bilateral microphthalmos, Dental ... |
OMIM:219000 |
Microphthalmia With Limb Anomalies |
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Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... |
ORPHA:1106 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Anophthalmia, Thick vermilion border, Long philtrum, Microphthalmia, Leukemia |
ORPHA:2526 |
Mirage Syndrome |
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Cryptorchidism, Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Decreased testicul... |
OMIM:617053 |
Focal Dermal Hypoplasia |
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Delayed eruption of teeth, Anophthalmia, Supernumerary nipple, Cleft upper lip, Cryptorchidism, D... |
OMIM:305600 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Retrognathia, Mandibular aplasia, ... |
ORPHA:2556 |
Charge Syndrome |
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Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Crypto... |
ORPHA:138 |
Fraser Syndrome |
|
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Orofacial cl... |
ORPHA:2052 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Supernumerary nipple, Micrognathia, Cleft upper lip, Cryptorchidism, Lower lip pit,... |
OMIM:113620 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Decreased response to growth hormone stimulation test, Cleft up... |
OMIM:214800 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Micrognathia, Cryptorchidism, Microglossia, Cleft palate, High palate, Microphthalm... |
OMIM:607932 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, High, narrow palate, Orofacial cl... |
OMIM:309800 |
Proteus Syndrome |
|
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o... |
ORPHA:744 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth,... |
OMIM:164210 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |