QRICH1-related intellectual disability-chondrodysplasia syndrome

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QRICH1-related intellectual disability-chondrodysplasia syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism upslanting palpebral fissures broad nose with broad nasal tip and low-set cup-shaped ears among others. Autism spectrum disorder and neurologic abnormalities have also been reported.

Data from Orphanet are 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 September 2023.

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QRICH1-related intellectual disability-chondrodysplasia syndrome?

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