Intellectual deficit, X-linked, Siderius type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SIDERIUS TYPE SIDERIUS-HAMEL SYNDROME MRXSSD |
| Number of Symptoms | 13 |
| OrphanetNr: | 85287 |
| OMIM Id: |
300263
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| ICD-10: |
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| UMLs: |
C1846055 |
| MeSH: |
C537333 |
| MedDRA: |
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| Snomed: |
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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: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-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:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0008734) | Decreased testicular size | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000664) | Synophrys | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0002162) | Low posterior hairline | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0000276) | Long face | Very frequent [Orphanet] | 109 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001176) | Large hands | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0001177) | Preaxial hand polydactyly | Occasional [Orphanet] | 59 / 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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Additional Information:
| Clinical Description OMIM |
Siderius et al. (1999) described a family with 3 males (the propositus and his maternal uncle and cousin) with mild to borderline mental retardation. All 3 had similar facial features, with a long face and a broad nasal ... |
| Molecular genetics OMIM |
In the 3 affected males from the family reported by Siderius et al. (1999) and in a 25-year-old male with mental retardation and similar clinical features, Laumonnier et al. (2005) identified a deletion (300560.0001) and a nonsense mutation ... |