Otopalatodigital syndrome type 2

Orpha code: 90652OMIM code: 304120

Definicja

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
OPD II syndrome
OPD syndrome 2
OPD II syndrome
OPD syndrome 2
Kod ORPHA
90652
Kod OMIM
304120
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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