Phenotypes associated with the disease microcephaly-congenital cataract-psoriasiform dermatitis syndrome (OMIM:616834):
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Decreased circulating LDL-C concentration (HP:0003563): The concentration of low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. (OMIM:616834)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Hypocholesterolemia (HP:0003146): An decreased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Elevated circulating methysterol concentration (HP:6001113): The concentration of a methysterol in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:616834)
- Elevated circulating monomethyl sterol concentration (HP:6000753): Concentration of monomethylsterols (such as 4alpha-monomethylsterol) in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Elevated circulating dimethyl sterol concentration (HP:6000754): The concentration of dimethylsterols in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. (OMIM:616834)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- 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:21285510)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. (OMIM:616834)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: PCS. Frequency: 1/1. (PMID:21285510)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: PCS. Frequency: 1/1. (PMID:21285510)