- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: IEA. (OMIM:273400)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:273400)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: IEA. (OMIM:273400)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: IEA. (OMIM:273400)
- Tetraamelia (HP:0003057): Amelia of all four limbs. Evidence: IEA. (OMIM:273400)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: IEA. (OMIM:273400)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: IEA. (OMIM:273400)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: IEA. (OMIM:273400)
- Hypoplastic areola (HP:0100853): Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. Evidence: TAS. (OMIM:273400)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: IEA. (OMIM:273400)
- Autosomal recessive inheritance (HP:0000007): 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: IEA. (OMIM:273400)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: IEA. (OMIM:273400)
- Hypoplastic nipples (HP:0002557): Underdevelopment of the nipple. Evidence: TAS. (OMIM:273400)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: IEA. (OMIM:273400)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: IEA. (OMIM:273400)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:273400)
- 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:273400)
These phenotypes are associated with the disease odontotrichomelic syndrome (OMIM:273400).