- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: IEA. (OMIM:601701)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: IEA. (OMIM:601701)
- 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:601701)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:601701)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:601701)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:601701)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:601701)
- Trichiasis (HP:0001128): Inversion and rubbing of the eyelashes against the globe of the eye. Evidence: IEA. (OMIM:601701)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. (OMIM:601701)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:601701)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (OMIM:601701)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:601701)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. (OMIM:601701)
- Trichodysplasia (HP:0002552): Developmental dysplasia of the hair. Evidence: IEA. (OMIM:601701)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: IEA. (OMIM:601701)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:601701)
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: IEA. (OMIM:601701)
- 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: TAS. (OMIM:601701)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:601701)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. (OMIM:601701)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. (OMIM:601701)
- 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:601701)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: IEA. (OMIM:601701)
- Abnormal dermatoglyphics (HP:0007477): An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. Evidence: IEA. (OMIM:601701)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. (OMIM:601701)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: IEA. (OMIM:601701)
- 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: TAS. (OMIM:601701)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: IEA. (OMIM:601701)
- Entropion (HP:0000621): An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Evidence: IEA. (OMIM:601701)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. (OMIM:601701)
These phenotypes are associated with the disease tricho-oculo-dermo-vertebral syndrome (OMIM:601701).