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 |
Verheij Syndrome |
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Branchial cyst, Ventricular septal defect, Short stature, Short neck, Clinodactyly, Growth delay,... |
OMIM:615583 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
X-Linked Mandibulofacial Dysostosis |
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Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... |
ORPHA:1131 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Branchiootic Syndrome 1 |
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Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Fryns Microphthalmia Syndrome |
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Neural tube defect, Macrotia |
OMIM:600776 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:1908 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst, Finger syndactyly, Tapered finger, Sensorineural hearing impairment, Protruding e... |
ORPHA:435938 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo... |
OMIM:601357 |
Holoprosencephaly |
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Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... |
ORPHA:2162 |
Branchiootic Syndrome 3 |
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Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
Aplasia Cutis Congenita |
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Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... |
OMIM:113650 |
Bor Syndrome |
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Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Branchiootic Syndrome |
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Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... |
ORPHA:52429 |
Joubert Syndrome 15 |
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Coloboma, Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... |
ORPHA:261337 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... |
ORPHA:261330 |
Alg3-Cdg |
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Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tu... |
ORPHA:79321 |
Diabetic Embryopathy |
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Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Spinal dysraphism, A... |
ORPHA:1926 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... |
ORPHA:352665 |
Oligomeganephronia |
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Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... |
OMIM:617660 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... |
ORPHA:508488 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Natal tooth, Mixed hearing impairment, Broad hallux, Short stature, Conductive he... |
OMIM:620186 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Brachydactyly, Posteriorly rotated ears, Prominent antihelix, Branchial anomaly, Short palm, Prom... |
ORPHA:466950 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Patent ductus arteriosus, Microtia, Conductive hearing impairme... |
ORPHA:861 |
Isolated Posterior Meningocele |
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Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Branchiooculofacial Syndrome |
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Posteriorly rotated ears, Proximal placement of thumb, Short neck, Postnatal growth retardation, ... |
OMIM:113620 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Sens... |
OMIM:164210 |
Iniencephaly |
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Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Witteveen-Kolk Syndrome |
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Uplifted earlobe, Proximal placement of thumb, Protruding ear, Short palm, Clinodactyly of the 5t... |
OMIM:613406 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
Alobar Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:220386 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Abnormality of the stapes, Overlapping fingers, Overlapping toe, Short... |
ORPHA:798 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly, Talipes equinovarus |
OMIM:601374 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
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Postnatal growth retardation |
OMIM:616111 |