Phenotypes associated with the disease aplasia cutis-myopia syndrome (OMIM:601075):
- Congenital nystagmus (HP:0006934): Nystagmus dating from or present at birth. Evidence: IEA. (OMIM:601075)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:601075)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: IEA. (OMIM:601075)
- Aplasia cutis congenita of midline scalp vertex (HP:0007536). Evidence: IEA. (OMIM:601075)