Alopecia-intellectual deficit syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Perniola-Krajewska-Carnevale syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 2850 |
| OMIM Id: |
203650
610422 613930 |
| 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 inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alopecia
-Rare genetic disease -Rare skin 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:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0000613) | Photophobia | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002289) | Alopecia universalis | 20 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0003394) | Muscle cramps | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0400004) | Long ear | Occasional [Orphanet] | 94 / 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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