- Curly hair (HP:0002212). Evidence: PCS. Frequency: 4/4. (PMID:17273967;PMID:18445049)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 1/3. (PMID:17273967)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:17273967;PMID:18445049)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/1. (PMID:18445049)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: PCS. Frequency: 3/3. (PMID:17273967)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 1/1. (PMID:18445049)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 4/4. (PMID:17273967;PMID:18445049)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 4/4. (PMID:17273967;PMID:18445049)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 3/4. (PMID:17273967;PMID:18445049)
- Congenital ichthyosiform erythroderma (HP:0007431): An ichthyosiform abnormality of the skin with congenital onset. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:17273967)
- Congenital ichthyosiform erythroderma (HP:0007431): An ichthyosiform abnormality of the skin with congenital onset. Evidence: PCS. Frequency: 1/1. (PMID:18445049)
- 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:18445049)
- 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: 3/3. (PMID:17273967)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 0/3. (PMID:17273967)
- Curly eyelashes (HP:0007665): Abnormally curly or curved eyelashes. Evidence: PCS. Frequency: 3/3. (PMID:17273967)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 1/1. (PMID:18445049)
- Conical primary incisor (HP:0011082): An abnormal conical morphology of the primary incisor. Evidence: PCS. Frequency: 1/3. (PMID:17273967)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: PCS. Frequency: 1/1. (PMID:18445049)
- Pili torti (HP:0003777): Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. Evidence: PCS. Frequency: 3/3. (PMID:17273967)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: IEA. (OMIM:602400)
These phenotypes are associated with the disease autosomal recessive congenital ichthyosis 11 (OMIM:602400).