Phenotypes associated with the disease peroxisome biogenesis disorder 2B (OMIM:202370, an entry in Online Mendelian Inheritance in Man):
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:202370)
- Elevated circulating long chain fatty acid concentration (HP:0003455, a Human Phenotype Ontology term): Increased concentration of long-chain fatty acids in the blood circulation. Evidence: IEA. (OMIM:202370)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:202370)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: IEA. (OMIM:202370)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: IEA. (OMIM:202370)
- Polar cataract (HP:0010696, a Human Phenotype Ontology term): A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. Evidence: TAS. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (OMIM:202370)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: IEA. (OMIM:202370)
- Abnormal facial shape (HP:0001999, a Human Phenotype Ontology term): An abnormal morphology (form) of the face or its components. Evidence: IEA. (OMIM:202370)
- 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. (PMID:7719337)
- High, narrow palate (HP:0002705, a Human Phenotype Ontology term): The presence of a high and narrow palate. Evidence: TAS. (OMIM:202370)
- High forehead (HP:0000348, a Human Phenotype Ontology term): An abnormally increased height of the forehead. Evidence: IEA. (OMIM:202370)
- Adrenal insufficiency (HP:0000846, a Human Phenotype Ontology term): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: IEA. (OMIM:202370)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:202370)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: IEA. (OMIM:202370)
- Esotropia (HP:0000565, a Human Phenotype Ontology term): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: IEA. (OMIM:202370)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:202370)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:202370)
- 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:202370)