- Source: Intellectual disability-spasticity-ectrodactyly syndrome
Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature.
References
Kata Kunci Pencarian:
- Intellectual disability-spasticity-ectrodactyly syndrome
- List of syndromes
- List of diseases (S)
- Microtia
- List of genetic disorders
- Ciliopathy
