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Blepharophimosis-intellectual disability syndrome, Verloes type
Disease definition
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
ORPHA:293725
Classification level: Disorder- Synonym(s):
- BMRS type V
- BMRS, Verloes type
- Blepharophimosis-intellectual disability syndrome type V
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.8
- OMIM: 604314
- UMLS: C4755262
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()
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