- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 3/3. (PMID:16501574)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 3/3. (PMID:16501574)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: PCS. Frequency: 2/2. (PMID:28483234)
- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: PCS. Frequency: 0/3. (PMID:16501574)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 4/5. (PMID:16501574;PMID:28483234)
- Absent lacrimal punctum (HP:0001092): No identifiable superior and/or inferior lacrimal punctum. Evidence: PCS. Frequency: 2/2. (PMID:28483234)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 5/5. (PMID:16501574;PMID:28483234)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 5/5. (PMID:16501574;PMID:28483234)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 4/5. (PMID:16501574;PMID:28483234)
- Duplication of thumb phalanx (HP:0009942): Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Evidence: PCS. Frequency: 2/2. (PMID:28483234)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 5/5. (PMID:16501574;PMID:28483234)
- Lacrimal duct atresia (HP:0000564): A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. Evidence: PCS. Frequency: 2/2. (PMID:28483234)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:16501574)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 3/3. (PMID:16501574)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: PCS. Frequency: 3/3. (PMID:16501574)
These phenotypes are associated with the disease lacrimoauriculodentodigital syndrome 2 (OMIM:620192).