Intellectual deficit - alacrima - achalasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRXS17 MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA |
| Number of Symptoms | 11 |
| OrphanetNr: | 289483 |
| OMIM Id: |
300858
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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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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital alacrima
-Rare eye disease -Rare genetic 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:0000522) | Alacrima | 14 / 7739 | ||||
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(HPO:0009916) | Anisocoria | 11 / 7739 | ||||
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(HPO:0001344) | Absent speech | 57 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002571) | Achalasia | 19 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Normal adrenal function | 1 / 7739 | ||||
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(OMIM) | Lack of speech development | 20 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Marom et al. (2011) reported a consanguineous Arab Muslim kindred in which 5 boys ranging in age from 8 months to 7.5 years had global developmental delay, delayed motor development, lack of speech development, and mental retardation. All ... |