- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 4/4. (PMID:16501574)
- Delayed eruption of primary teeth (HP:0000680): Delayed tooth eruption affecting the primary dentition. Evidence: IEA. (OMIM:149730)
- Absent lacrimal punctum (HP:0001092): No identifiable superior and/or inferior lacrimal punctum. Evidence: PCS. Frequency: 3/4. (PMID:16501574)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: IEA. (OMIM:149730)
- Radial deviation of the 3rd finger (HP:0009462): Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). Evidence: TAS. (OMIM:149730)
- Aplasia of the parotid gland (HP:0009740): Absence of the parotid gland. Evidence: IEA. (OMIM:149730)
- Conical incisor (HP:0011065): An abnormal conical morphology of the incisor tooth. Evidence: PCS. Frequency: 1/4. (PMID:16501574)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:149730)
- Nephrosclerosis (HP:0009741): Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. Evidence: IEA. (OMIM:149730)
- Partial duplication of thumb phalanx (HP:0009944): A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. Evidence: PCS. Frequency: 11/14. (OMIM:149730;PMID:16501574)
- Recurrent corneal erosions (HP:0000495): The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. Evidence: TAS. (OMIM:149730)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/4. (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: 3/4. (PMID:16501574)
- Corneal perforation (HP:0100583): A rupture of the cornea through which a portion of the iris protrudes. Evidence: PCS. (OMIM:149730)
- Preaxial polydactyly (HP:0100258): A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. Evidence: TAS. (OMIM:149730)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. (OMIM:149730)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 3/4. (PMID:16501574)
- 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)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. (OMIM:149730)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 3/4. (PMID:16501574)
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: PCS. Frequency: 1/4. (PMID:16501574)
- 2-3 finger cutaneous syndactyly (HP:0001233): A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints. Evidence: IEA. (OMIM:149730)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:149730)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 3/4. (PMID:16501574)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: IEA. (OMIM:149730)
- Bilateral triphalangeal thumbs (HP:0005707): A bilateral form of triphalangeal thumb. Evidence: IEA. (OMIM:149730)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: IEA. (OMIM:149730)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: IEA. (OMIM:149730)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 4/4. (PMID:16501574)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: IEA. (OMIM:149730)
- Hyperextensible skin (HP:0000974): A condition in which the skin can be stretched beyond normal, and then returns to its initial position. Evidence: IEA. (OMIM:149730)
- Hypoplastic lacrimal duct (HP:0007900). Evidence: PCS. (OMIM:149730)
- Absence of Stensen duct (HP:0000198). Evidence: IEA. (OMIM:149730)
- 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: 2/4. (PMID:16501574)
- Small thenar eminence (HP:0001245): Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. Evidence: IEA. (OMIM:149730)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: PCS. (OMIM:149730)
- Limbal stem cell deficiency (HP:0032107): A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. Evidence: IEA. (OMIM:149730)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/4. (PMID:16501574)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 1/4. (PMID:16501574)
- Hypoplasia of the lacrimal punctum (HP:0007892): Underdevelopment of the lacrimal puncta. Evidence: IEA. (OMIM:149730)
- Periorbital fullness (HP:0000629): Increase in periorbital soft tissue. Evidence: IEA. (OMIM:149730)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 2/4. (PMID:16501574)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/4. (PMID:16501574)
- Coronal hypospadias (HP:0008743): A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft. Evidence: IEA. (OMIM:149730)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: IEA. (OMIM:149730)
- Lacrimal gland hypoplasia (HP:0007732): Underdevelopment of the lacrimal gland. Evidence: PCS. (OMIM:149730)
- Lacrimal gland aplasia (HP:0007656): A congenital defect of development characterized by absence of the lacrimal gland. Evidence: PCS. (OMIM:149730)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: IEA. (OMIM:149730)
- Absent proximal phalanx of thumb (HP:0009637): Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, 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: IEA. (OMIM:149730)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:149730)
These phenotypes are associated with the disease LADD syndrome 1 (OMIM:149730).