KLHL7-related Bohring-Opitz-like syndrome

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KLHL7-related Bohring-Opitz-like syndrome

Synonyms: KLHL7-related BOS-like syndrome

A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome like intrauterine growth retardation facial dysmorphism microcephaly severe feeding difficulties joint contractures intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly synophrys high myopia and cyclic emesis are on the contrary very rarely described.

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 October 2023.

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