Cortical blindness - intellectual deficit - polydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | 1389 |
| OMIM Id: |
218010
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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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000308) | Microretrognathia | 78 / 7739 | ||||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000649) | Abnormality of visual evoked potentials | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0100704) | Cortical visual impairment | 28 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0004326) | Cachexia | Very frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001507) | Growth abnormality | 36 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
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(OMIM) | Retarded | 1 / 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 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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