- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:112370)
- Abnormality of the face (HP:0000271, a Human Phenotype Ontology term): An abnormality of the face. Evidence: IEA. (OMIM:112370)
- Unusual dermatoglyphics (HP:0007560, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:112370)
- 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: IEA. (OMIM:112370)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:112370)
- Metatarsus adductus (HP:0001840, a Human Phenotype Ontology term): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: IEA. (OMIM:112370)
- 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:112370)
These phenotypes are associated with the disease Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay (OMIM:112370, an entry in Online Mendelian Inheritance in Man).