<unk>  is autosomal recessive which means the defective gene is located on an autosome, and two copies of the gene - one inherited from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder. Autosomal dominant inheritance also being reported. Compound heterozygous mutations in OPA1 gene were reported. Molecular genetic studies revealed a homozygous mutation in the C19ORF12 gene which has been previously reported in patients with mitochondrial membrane protein-associated neurodegeneration (MPAN) a variant of neurodegeneration with brain iron accumulation (NBIA).
Behr syndrome
Wilson's temperature syndrome
Wellens' syndrome
Zaki syndrome
Fowler's syndrome
Karak syndrome
Hashimoto's encephalopathy
Menke-Hennekam syndrome