Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Lambert Syndrome |
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Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Verheij Syndrome |
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Coloboma, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short... |
OMIM:615583 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
X-Linked Mandibulofacial Dysostosis |
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Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Coloboma, Pleural effusi... |
ORPHA:453499 |
Branchiogenic-Deafness Syndrome |
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Short stature, Branchial fistula, Branchial cyst |
OMIM:609166 |
Craniofacial Microsomia 2 |
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Dermal sinus tract |
OMIM:620444 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida |
ORPHA:2476 |
Aminopterin/Methotrexate Embryofetopathy |
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Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... |
ORPHA:1908 |
Holoprosencephaly |
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Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Chorioretinal colob... |
ORPHA:2162 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Anterior encephalocele, Coloboma, Ventricular septal defect, Holoprosencephaly |
OMIM:601357 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Severe postnatal growth retardation, Branchial cyst |
ORPHA:435938 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Joubert Syndrome 15 |
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Coloboma, Exencephaly |
OMIM:614464 |
Branchiogenic Deafness Syndrome |
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Short stature, Branchial fistula, Branchial cyst |
ORPHA:50815 |
Oligomeganephronia |
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Secundum atrial septal defect, Dehydration, Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
Distal 22Q11.2 Microduplication Syndrome |
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Tricuspid valve prolapse, Palpebral edema, Webbed neck, Hydrocephalus, Low posterior hairline, Op... |
ORPHA:261337 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... |
ORPHA:352665 |
Isolated Posterior Meningocele |
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Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... |
ORPHA:268810 |
Alg3-Cdg |
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Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Distal 22Q11.2 Microdeletion Syndrome |
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Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal d... |
ORPHA:261330 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Branchiootorenal Syndrome 1 |
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Branchial fistula, Branchial cyst |
OMIM:113650 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Short stature, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism, Atrial septal defect, H... |
OMIM:617660 |
8Q24.3 Microdeletion Syndrome |
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Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,... |
ORPHA:508488 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Polyhydramnios, Patent foramen ovale, Short stature, Natal tooth, Optic disc coloboma, Right vent... |
OMIM:620186 |
Treacher-Collins Syndrome |
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Branchial fistula, Patent ductus arteriosus, Encephalocele, Iris coloboma |
ORPHA:861 |
Craniorachischisis |
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Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Lymphatic Malformation 7 |
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Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... |
OMIM:617300 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Iniencephaly |
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Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bi... |
ORPHA:63259 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele |
OMIM:600145 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art... |
OMIM:164210 |
Branchiooculofacial Syndrome |
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Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Retinal coloboma, Intrau... |
OMIM:113620 |
Alobar Holoprosencephaly |
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Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology |
ORPHA:220386 |
Witteveen-Kolk Syndrome |
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Polyhydramnios, Growth delay, Short stature, Intrauterine growth retardation, Branchial fistula, ... |
OMIM:613406 |
Schinzel-Giedion Syndrome |
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Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short... |
ORPHA:798 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |
Autosomal Recessive Primary Microcephaly |
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Growth delay, Short stature |
ORPHA:2512 |
Microcephaly 14, Primary, Autosomal Recessive |
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OMIM:616402 |