- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Hyperconvex fingernails (HP:0001812): When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Epiphyseal dysplasia (HP:0002656). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Abnormal patella morphology (HP:0003045): Abnormality of the patella (knee cap). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Recurrent long bone fractures (HP:0003084): An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Wide humerus (HP:0003886). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Early-onset non-progressive night blindness (HP:0007642): A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Equinovarus deformity (HP:0008110). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Talipes calcaneovarus (HP:0008124): A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Congenital onychodystrophy (HP:0008394). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
- Onychauxis (HP:0012542): Thickened nails without deformity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319195)
- Hyperconvex toenail (HP:0030055): When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319195)
These phenotypes are associated with the disease Chondroectodermal dysplasia with night blindness (ORPHA:319195).