- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 9/9. Onset: Fetal onset (HP:0011461). (PMID:21856041)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 6/23. (PMID:21856041)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: PCS. Frequency: 10/10. (PMID:21856041)
- Neonatal asphyxia (HP:0012768): Respiratory failure in the newborn. Evidence: PCS. Frequency: 17/17. (PMID:21856041)
- Alopecia of scalp (HP:0002293). Evidence: PCS. Frequency: 2/23. (PMID:21856041)
- Allergic rhinitis (HP:0003193): It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Evidence: PCS. Frequency: 6/23. (PMID:21856041)
- Dermatographic urticaria (HP:0011971): An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). Evidence: PCS. (PMID:21856041)
- Food allergy (HP:0500093): Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. Evidence: PCS. Frequency: 6/23. (PMID:21856041)
- Caseous vernix-like desquamation (HP:0025724): Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. Evidence: PCS. Frequency: 23/23. (PMID:21856041)
- 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:21856041)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: PCS. (PMID:21856041)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: PCS. Frequency: 23/23. Onset: Congenital onset (HP:0003577). (PMID:21856041)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. Frequency: 23/23. (PMID:21856041)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: PCS. Frequency: 23/23. (PMID:21856041)
- Generalized ichthyosis (HP:0007503). Evidence: PCS. Frequency: 23/23. (PMID:21856041)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 23/23. Onset: Congenital onset (HP:0003577). (PMID:21856041)
These phenotypes are associated with the disease ichthyosis prematurity syndrome (OMIM:608649).