Familial developmental dysphasia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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FOXP2-associated dysphasia
Billard-Toutain-Maheut syndrome
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Number of Symptoms
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6
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OrphanetNr:
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1799
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OMIM Id:
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600117
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ICD-10:
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F80.1
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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:
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Prevalence:
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6
families
[Orphanet]
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Childhood
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Specific language disorder
-Rare neurologic disease
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1
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(HPO:0002167)
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Neurological speech impairment |
Very frequent [Orphanet]
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308 / 7739
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2
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(HPO:0002474)
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Expressive language delay |
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8 / 7739
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3
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(HPO:0002357)
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Dysphasia |
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33 / 7739
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4
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(OMIM)
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Developmental dysphasia |
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1 / 7739
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5
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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6
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(OMIM)
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Specific severe delayed spoken language development |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |