Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019). [from OMIM]
- MedGen UID:
- 333149
- •Concept ID:
- C1838654
- •
- Disease or Syndrome