- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 3/8. (PMID:12603844)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: TAS. (OMIM:247100)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: IEA. (OMIM:247100)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 2/10. (PMID:12603844)
- Generalized non-motor (absence) seizure (HP:0002121): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: PCS. Frequency: 1/10. (PMID:12603844)
- Bilateral intracerebral calcifications (HP:0005671): Deposition of calcium salts on both sides of the cerebrum. Evidence: IEA. (OMIM:247100)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/8. (PMID:12603844)
- Papillary dermis eosinophilic hyaline material (HP:6000656): Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers. Evidence: PCS. (PMID:26803878)
- Paranoia (HP:0011999): The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. Evidence: TAS. (OMIM:247100)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: PCS. Frequency: 2/10. (PMID:12603844)
- Multiple eyelid beaded papules (HP:6000842): Multiple beaded papules along the eyelid margins and inner canthus. Evidence: PCS. Frequency: 1/1. (PMID:26655007)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: PCS. Frequency: 9/10. (PMID:12603844)
- Temporal lobe calcification (HP:0034293): The presence of calcium deposition within the temporal lobe of the brain. Evidence: PCS. Frequency: 3/10. (PMID:12603844)
- Hallucinations (HP:0000738): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. (OMIM:247100)
- Reduced epidermal extracellular matrix protein 1 protein expression (HP:0034760): Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis. Evidence: PCS. (PMID:15265527)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: PCS. Frequency: 1/10. (PMID:12603844)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/8. (PMID:12603844)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. (OMIM:247100)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: PCS. Frequency: 10/10. Onset: Infantile onset (HP:0003593). (PMID:12603844)
- 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:11929856)
- Skin plaque (HP:0200035): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: PCS. Frequency: 1/10. (PMID:12603844)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: PCS. Frequency: 7/10. (PMID:12603844)
- 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: PCS. Frequency: 1/10. (PMID:12603844)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: PCS. Frequency: 1/10. (PMID:12603844)
These phenotypes are associated with the disease lipoid proteinosis (OMIM:247100).