- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:188150)
- Short stature (HP:0004322): 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: IEA. (OMIM:188150)
- Increased groin pigmentation with raindrop depigmentation (HP:0007450). Evidence: IEA. (OMIM:188150)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: IEA. (OMIM:188150)
- Autosomal dominant inheritance (HP:0000006): 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:188150)
- 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: IEA. (OMIM:188150)
- Solitary median maxillary central incisor (HP:0006315): A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. Evidence: IEA. (OMIM:188150)
These phenotypes are associated with the disease thumb deformity-alopecia-pigmentation anomaly syndrome (OMIM:188150).