Blepharophimosis-intellectual disability syndrome, Verloes type
Synonyms: BMRS type V | BMRS, Verloes type | Blepharophimosis-intellectual disability syndrome type V
Blepharophimosis-intellectual disability syndrome Verloes type is 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.
Data from Orphanetare used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version May 2023.
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Uplifting Athletes Inc.
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For a list of clinical trials in this disease area, please click here.