Microcephaly - cardiac defect - lung malsegmentation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Ellis-Yale-Winter syndrome |
| Number of Symptoms | 31 |
| OrphanetNr: | 2516 |
| OMIM Id: |
601355
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Rare syndrome with cardiac malformations -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000122) | Unilateral renal agenesis | 24 / 7739 | ||||
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(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | Frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0009796) | Branchial cyst | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000465) | Webbed neck | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | Frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0004467) | Preauricular pit | 39 / 7739 | ||||
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(HPO:0004404) | Abnormality of the nipple | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001660) | Truncus arteriosus | 21 / 7739 | ||||
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(HPO:0012303) | Abnormality of the aortic arch | Frequent [Orphanet] | 57 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Very frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0002101) | Abnormal lung lobation | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0002086) | Abnormality of the respiratory system | 17 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0002324) | Hydranencephaly | 9 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 | |||
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(OMIM) | Short terminal phalanges of fingers | 1 / 7739 | ||||
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(OMIM) | Hypolobulation of lungs | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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