Hair defect - photosensitivity - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Calderon-Gonzalez Cantu syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 1408 |
| OMIM Id: |
234030
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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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic hair shaft abnormality -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000992) | Cutaneous photosensitivity | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0002299) | Brittle hair | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0003777) | Pili torti | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0002208) | Coarse hair | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Coarse hair, eyebrows and eyelashes | 1 / 7739 | ||||
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(OMIM) | Sparse hair, eyebrows and eyelashes | 1 / 7739 | ||||
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(OMIM) | Stubby hair, eyebrows and eyelashes | 1 / 7739 | ||||
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(OMIM) | Fragile hair, eyebrows and eyelashes | 1 / 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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