Otopalatodigitalt syndrom type 1


Engelsk navn: Otopalatodigital syndrome type 1
Engelske synonym: OPD I syndrome,OPD syndrome 1,Taybi syndrome


Definisjon

A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

Fra Orphanet

ORPHA: 90650
Klassifiseringsnivå: Disorder
ICD-10: Q87.0

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