- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: IEA. (OMIM:245660)
- Corneal pterygium (HP:0034363): Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea. Evidence: PCS. Frequency: 6/6. (PMID:12915477)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 6/6. (PMID:12915477)
- Symblepharon (HP:0430007): A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. Evidence: PCS. Frequency: 1/6. (PMID:12915477)
- 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: PCS. (PMID:12915477)
- Hoarse cry (HP:0001615). Evidence: PCS. Frequency: 6/6. Onset: Neonatal onset (HP:0003623). (PMID:12915477)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 6/6. (PMID:12915477)
- Weak cry (HP:0001612). Evidence: IEA. (OMIM:245660)
- Recurrent loss of toenails and fingernails (HP:0008390): Repeated loss, or shedding, of the nails of the fingers and toes. Evidence: IEA. (OMIM:245660)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: IEA. (OMIM:245660)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 6/6. (PMID:12915477)
These phenotypes are associated with the disease laryngo-onycho-cutaneous syndrome (OMIM:245660).