- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:129850)
- Neonatal hyperbilirubinemia (HP:0003265, a Human Phenotype Ontology term): A type of hyperbilirubinemia with neonatal onset. Evidence: IEA. (OMIM:129850)
- U-Shaped upper lip vermilion (HP:0010806, a Human Phenotype Ontology term): Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. Evidence: TAS. (OMIM:129850)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:129850)
- Frontal hirsutism (HP:0011335, a Human Phenotype Ontology term): Excessive amount of hair growth on forehead. Evidence: TAS. (OMIM:129850)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:129850)
- Death in infancy (HP:0001522, a Human Phenotype Ontology term): Death within the first 24 months of life. Evidence: IEA. (OMIM:129850)
- Accelerated skeletal maturation (HP:0005616, a Human Phenotype Ontology term): An abnormally increased rate of skeletal maturation. Accelerated 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: IEA. (OMIM:129850)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:129850)
- Jaundice (HP:0000952, a Human Phenotype Ontology term): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:129850)
- 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:129850)
These phenotypes are associated with the disease Edinburgh malformation syndrome (OMIM:129850, an entry in Online Mendelian Inheritance in Man).