Phenotypes associated with the disease breasts and/or nipples, aplasia or hypoplasia of, 2 (OMIM:616001, an entry in Online Mendelian Inheritance in Man):
- Small earlobe (HP:0000385, a Human Phenotype Ontology term): Reduced volume of the earlobe. Evidence: PCS. Frequency: 1/3. (PMID:24781087)
- Highly arched eyebrow (HP:0002553, a Human Phenotype Ontology term): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: PCS. Frequency: 2/3. (PMID:24781087)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 2/3. (PMID:24781087)
- Absent nipple (HP:0002561, a Human Phenotype Ontology term): Congenital failure to develop, and absence of, the nipple. Evidence: PCS. Frequency: 2/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:24781087)
- Hypoplastic areola (HP:0100853, a Human Phenotype Ontology term): Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. Evidence: PCS. Frequency: 1/3. (PMID:24781087)
- Smooth philtrum (HP:0000319, a Human Phenotype Ontology term): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 2/3. (PMID:24781087)
- Male urethral meatus stenosis (HP:0032077, a Human Phenotype Ontology term): An abnormal narrowing of the urethral opening (meatus) of the penis. Evidence: PCS. Frequency: 1/2. (PMID:24781087)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:24781087)
- Bilateral single transverse palmar creases (HP:0007598, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: PCS. Frequency: 1/3. (PMID:24781087)
- Broad nasal tip (HP:0000455, a Human Phenotype Ontology term): Increase in width of the nasal tip. Evidence: PCS. Frequency: 2/3. (PMID:24781087)
- Hypoplastic nipples (HP:0002557, a Human Phenotype Ontology term): Underdevelopment of the nipple. Evidence: PCS. Frequency: 1/3. (PMID:24781087)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:24781087)
- Widely spaced teeth (HP:0000687, a Human Phenotype Ontology term): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 1/3. (PMID:24781087)