Intellectual disability-spasticity-ectrodactyly syndrome

Orpha code: 1891OMIM code: 246555

Definicja

Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Jancar syndrome
Zespół Jancar
Kod ORPHA
1891
Kod OMIM
246555
Kod ICD10
Q87.2
Kod ICD11
-

No additional description.

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