Otopalatodigital syndrome type 1

Orpha code: 90650OMIM code: 311300

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
OPD I syndrome
OPD syndrome 1
Taybi syndrome
OPD I syndrome
OPD syndrome 1
Taybi syndrome
ORPHA code
90650
OMIM code
311300
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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