- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:22010916)
- Bloody diarrhea (HP:0025085): Passage of many stools containing blood. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:22010916)
- Duodenitis (HP:0033117): Inflammation of the lining of the upper small intestine (duodenum). Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- Perioral erythema (HP:0033194): Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- Perianal erythema (HP:0033195): Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/2. (PMID:22010916)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 1/2. Onset: Childhood onset (HP:0011463). (PMID:22010916)
- Paronychia (HP:0001818): The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- 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: 2/2. (PMID:22010916)
- 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:22010916)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: PCS. Frequency: 2/2. (PMID:22010916)
- Otitis externa (HP:0410017): Inflammation or infection of the external auditory canal (EAC), the auricle, or both. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:22010916)
These phenotypes are associated with the disease inflammatory skin and bowel disease, neonatal, 1 (OMIM:614328).