Intellectual deficit, X-linked, Abidi type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRXSAB MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE |
| Number of Symptoms | 15 |
| OrphanetNr: | 85273 |
| OMIM Id: |
300262
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| ICD-10: |
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| UMLs: |
C1846056 |
| MeSH: |
C535556 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 8 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [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:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Occasional [Orphanet] | 193 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Occasional [Orphanet] | 121 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000411) | Protruding ear | Occasional [Orphanet] | 140 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0000598) | Abnormality of the ear | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Occasional [Orphanet] | 244 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0400004) | Long ear | Frequent [Orphanet] | 94 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Abidi et al. (1999) reported a family with X-linked mental retardation in which there were 8 affected males in 3 generations. Somatic manifestations were variable and mild; these included short stature (4 of 8), small head circumference (5 ... |