Phenotypes associated with the disease Lui-Jee-Baron syndrome (OMIM:301114):
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Large for gestational age (HP:0001520): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Normal pressure hydrocephalus (HP:0002343): A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Deep philtrum (HP:0002002): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Overgrowth (HP:0001548): Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:36333996)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:36927955)
- Intellectual disability (HP:0001249): 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: PCS. Frequency: 0/1. (PMID:36927955)