Otopalatodigital syndrome type 1

Orpha code: 90650OMIM code: 311300

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
OPD I syndrome
OPD syndrome 1
Taybi syndrome
OPD I syndrome
OPD syndrome 1
Taybi syndrome
Kod ORPHA
90650
Kod OMIM
311300
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl