Intellectual deficit, X-linked - plagiocephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MENTAL RETARDATION, X-LINKED, HYDE-FORSTER TYPE Hyde Forster-McCarthy-Berry syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 2898 |
| OMIM Id: |
300064
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| ICD-10: |
Q87.0 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0002342) | Intellectual disability, moderate | 37 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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