Cataract-congenital heart disease-neural tube defect syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 28 |
| OrphanetNr: | 314993 |
| OMIM Id: |
608227
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| ICD-10: |
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| 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 inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic syndrome with a central nervous system malformation as major feature
-Rare genetic disease Other syndrome with a central nervous system malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease Syndromic cataract -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | 52 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0001566) | Widely-spaced maxillary central incisors | 15 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0011398) | Central hypotonia | 12 / 7739 | ||||
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(HPO:0001276) | Hypertonia | 317 / 7739 | ||||
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(HPO:0003186) | Inverted nipples | 15 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0000960) | Sacral dimple | 29 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(OMIM) | Prominent widely-spaced incisors | 1 / 7739 | ||||
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(OMIM) | Compression deformities of the spine | 1 / 7739 | ||||
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(OMIM) | Cataracts, rapid-onset | 1 / 7739 | ||||
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(OMIM) | Tethered spinal cord | 5 / 7739 | ||||
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(OMIM) | Aphakic glaucoma | 1 / 7739 | ||||
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(OMIM) | Peripheral hypertonia | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(MedDRA:10049470) | Bone density decreased | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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