Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 85331 |
| OMIM Id: |
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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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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal ichthyosis syndrome with other associated signs
-Rare genetic disease -Rare skin disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 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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