Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
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Abnormality of the spleen |
OMIM:191150 |
Ceroid storage disease |
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Abnormality of the spleen |
OMIM:214200 |
Schwannomatosis 1 |
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Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Deafness, Autosomal Dominant 9 |
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Abnormality of the vestibulocochlear nerve |
OMIM:601369 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Arnold-Chiari Malformation Type I |
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Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Ab... |
ORPHA:268882 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Lambert Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly |
ORPHA:1296 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Verheij Syndrome |
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Branchial cyst, Optic nerve hypoplasia, Microcephaly, Short neck, Cerebral atrophy, Short 5th fin... |
OMIM:615583 |
X-Linked Mandibulofacial Dysostosis |
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Microcephaly, Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, Webbed neck, Abn... |
ORPHA:1131 |
Superficial Siderosis |
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Abnormality of the brachial nerve plexus, Dysgyria, Abnormality of the vestibulocochlear nerve, A... |
ORPHA:247245 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Mandibular prognathia, Branchial cyst, Pulmonary artery stenosis, Microcephaly |
ORPHA:435938 |
Branchiogenic-Deafness Syndrome |
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Branchial fistula, Trismus, Branchial cyst, Short distal phalanx of finger |
OMIM:609166 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Branchiootic Syndrome |
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Branchial fistula, Facial palsy, Micrognathia |
ORPHA:52429 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Microcephaly, Increased nuchal translucency, Gray matter heterotopia, Branchial anomaly, Ascendin... |
ORPHA:453499 |
Holoprosencephaly |
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Encephalocele, Microcephaly, Short neck, Abnormality of the spleen, Optic atrophy, Abnormality of... |
ORPHA:2162 |
Bor Syndrome |
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Branchial cyst, Retrognathia, Facial palsy |
ORPHA:107 |
Branchiootic Syndrome 1 |
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Branchial fistula, Retrognathia |
OMIM:602588 |
Distal 22Q11.2 Microduplication Syndrome |
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Mandibular prognathia, Branchial fistula, Microcephaly, Micrognathia, Patent ductus arteriosus, O... |
ORPHA:261337 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Branchial fistula, Abnormal cerebral morphology, Facial palsy |
OMIM:113650 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Optic nerve hypoplasia, Microcephaly, Increased nuchal translucency, Dental malocclusion, Gray ma... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Optic nerve hypoplasia, Microcephaly, Increased nuchal translucency, Dental malocclusion, Gray ma... |
ORPHA:352665 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula |
ORPHA:50815 |
Phace Syndrome |
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Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Coarctation of aorta, ... |
ORPHA:42775 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Microcephaly, Aortic aneurysm, Short palm, Malar flattening, Truncus arteriosu... |
ORPHA:261330 |
Oligomeganephronia |
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Branchial cyst, Optic disc coloboma, Micrognathia |
ORPHA:2260 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:861 |
8Q24.3 Microdeletion Syndrome |
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Microretrognathia, Branchial cyst, Short femur, Optic nerve hypoplasia, Short hallux, Micromelia,... |
ORPHA:508488 |
Arteriovenous Malformations Of The Brain |
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Cerebral arteriovenous malformation |
OMIM:108010 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Aortic dissection, Ane... |
OMIM:175050 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Natal tooth, Aplasia of the thymus, Facial palsy, Micrognathia, Carious teeth, Op... |
OMIM:620186 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly, Short palm |
ORPHA:466950 |
Leprosy |
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Abnormality of the spleen, Abnormality of the seventh cranial nerve, Abnormal facial skeleton mor... |
ORPHA:548 |
Benign Schwannoma |
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Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Branchiooculofacial Syndrome |
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Agenesis of cerebellar vermis, Facial palsy, Micrognathia, Microcephaly, Short thumb, Short neck,... |
OMIM:113620 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Coarc... |
OMIM:164210 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
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Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma |
OMIM:162260 |
Trichorhinophalangeal Syndrome, Type Ii |
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Mandibular prognathia, Short metacarpal, Cerebral arteriovenous malformation, Micrognathia, Cario... |
OMIM:150230 |
Witteveen-Kolk Syndrome |
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Microretrognathia, Branchial fistula, Microcephaly, Short thumb, Dysplastic corpus callosum, Cort... |
OMIM:613406 |
Parkes Weber Syndrome |
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Myelopathy, Cerebral arteriovenous malformation |
ORPHA:90307 |
Capillary Malformation-Arteriovenous Malformation |
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Cerebral arteriovenous malformation |
ORPHA:137667 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Pulmonary arteriovenous malformation, Ischemic stroke, Cerebral arteriovenous malformation |
OMIM:610655 |
Juvenile Polyposis Syndrome |
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Anemia, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Macrocephaly |
ORPHA:2929 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Ischemic stroke, Polyc... |
OMIM:600376 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Ischemic stroke, Polyc... |
OMIM:187300 |
Costello Syndrome |
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Redundant neck skin, Micrognathia, Short neck, Cerebral atrophy, Webbed neck, Vestibular schwanno... |
OMIM:218040 |
Legius Syndrome |
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Vestibular schwannoma, Neurofibroma, Acute monocytic leukemia, Macrocephaly |
ORPHA:137605 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
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OMIM:619986 |