- Echolalia (HP:0010529, a Human Phenotype Ontology term): Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. Evidence: PCS. Frequency: 1/2. (PMID:24403049)
- Abnormal circulating amino acid concentration (HP:0003112, a Human Phenotype Ontology term): Any deviation from the normal concentration of amino acid in the blood circulation. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Prominent fingertip pads (HP:0001212, a Human Phenotype Ontology term): A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Short foot (HP:0001773, a Human Phenotype Ontology term): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Abnormality of the integument (HP:0001574, a Human Phenotype Ontology term): An abnormality of the integument, which consists of the skin and the superficial fascia. Evidence: IEA. (OMIM:266265)
- Aminoaciduria (HP:0003355, a Human Phenotype Ontology term): An increased concentration of an amino acid in the urine. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Organic aciduria (HP:0001992, a Human Phenotype Ontology term): Excretion of non-amino organic acids in urine. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 2/2. (PMID:24403049)
- Cerebral cortical atrophy (HP:0002120, a Human Phenotype Ontology term): Atrophy of the cortex of the cerebrum. Evidence: IEA. (OMIM:266265)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:266265)
- Abnormal circulating insulin-like growth factor 1 concentration (HP:0030352, a Human Phenotype Ontology term): An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Coarse facial features (HP:0000280, a Human Phenotype Ontology term): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Unusual bronchiolitis (HP:0011950, a Human Phenotype Ontology term): Increased susceptibility to bronchiolitis (inflammation of the bronchioles) as manifested by recurrent or severe epsiodes of bronchiolitis. Evidence: PCS. Frequency: 1/2. (PMID:24403049)
- Severe intellectual disability (HP:0010864, a Human Phenotype Ontology term): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Increased total neutrophil count (HP:0011897, a Human Phenotype Ontology term): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: PCS. Frequency: 1/2. (PMID:24403049)
- Autism (HP:0000717, a Human Phenotype Ontology term): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 1/2. (PMID:24403049)
- Mucopolysacchariduria (HP:0008155, a Human Phenotype Ontology term): Excessive amounts of mucopolysaccharide in the urine. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Oligosacchariduria (HP:0010471, a Human Phenotype Ontology term): Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. Evidence: PCS. Frequency: 0/2. (PMID:24403049)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:266265)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:266265)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Reduction of neutrophil motility (HP:0005400, a Human Phenotype Ontology term): An abnormal reduction of the cell motility of neutrophils. Evidence: IEA. (OMIM:266265)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373, a Human Phenotype Ontology term): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: PCS. Frequency: 1/2. (PMID:24403049)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 2/2. (PMID:24403049)
- Pneumonia (HP:0002090, a Human Phenotype Ontology term): Inflammation of any part of the lung parenchyma. Evidence: IEA. (OMIM:266265)
- Periodontitis (HP:0000704, a Human Phenotype Ontology term): Inflammation of the periodontium. Evidence: IEA. (OMIM:266265)
- Autistic behavior (HP:0000729, a Human Phenotype Ontology term): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Cellulitis (HP:0100658, a Human Phenotype Ontology term): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: IEA. (OMIM:266265)
- Widow's peak (HP:0000349, a Human Phenotype Ontology term): Frontal hairline with bilateral arcs to a low point in the midline of the forehead. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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. Frequency: 20/20. (PMID:24403049;OMIM:266265)
- Compulsive behaviors (HP:0000722, a Human Phenotype Ontology term): Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. Evidence: PCS. Frequency: 1/2. (PMID:24403049)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
- Small hand (HP:0200055, a Human Phenotype Ontology term): Disproportionately small hand. Evidence: PCS. Frequency: 2/2. (PMID:24403049)
These phenotypes are associated with the disease leukocyte adhesion deficiency type II (OMIM:266265, an entry in Online Mendelian Inheritance in Man).