Orphanet: Intellectual disability spasticity ectrodactyly syndrome

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Intellectual disability-spasticity-ectrodactyly syndrome

Disease definition

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).

ORPHA:1891

Classification level: Disorder

Synonym(s):
- Jancar syndrome
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Neonatal, Infancy
ICD-10: Q87.2
OMIM: 246555
UMLS: C0796001
MeSH: -
GARD: 3523
MedDRA: -

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Intellectual disability-spasticity-ectrodactyly syndrome

ORPHA:1891

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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