- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- 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: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Prominent metopic ridge (HP:0005487): Vertical bony ridge positioned in the midline of the forehead. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Inverted nipples (HP:0003186): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Short middle phalanx of the 2nd finger (HP:0009577): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- 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: PCS. (PMID:27158779)
- Central Y-shaped metacarpal (HP:0006145): A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Partial duplication of thumb phalanx (HP:0009944): A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:27158779)
These phenotypes are associated with the disease orofaciodigital syndrome 17 (OMIM:617926).