- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- Broad chin (HP:0011822): Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:370010)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Facial grimacing (HP:0000273). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Abnormal scalp morphology (HP:0001965): Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- 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: Occasional (HP:0040283). (ORPHA:370010)
- Cervical C2/C3 vertebral fusion (HP:0004602): Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Bifid distal phalanx of the thumb (HP:0009611): Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Curved distal phalanx of the thumb (HP:0009644): A deviation from the normal straight shape of the distal phalanx of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Triangular shaped distal phalanx of the thumb (HP:0009648): Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Short distal phalanx of the thumb (HP:0009650): Hypoplastic (short) distal phalanx of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Short 3rd metacarpal (HP:0010041): Short third metacarpal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Short 5th metacarpal (HP:0010047): Short fifth metacarpal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Osseous finger syndactyly (HP:0010492): Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- 3-4 finger cutaneous syndactyly (HP:0011939): A soft tissue continuity in the A/P axis between fingers 3 and 4. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Hypoplastic thumbnail (HP:0012553): A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Moderate hearing impairment (HP:0012713): The presence of a moderate form of hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
- Overweight (HP:0025502): Increased body weight with a body mass index of 25-29.9 kg per square meter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:370010)
These phenotypes are associated with the disease Intellectual disability-facial dysmorphism-hand anomalies syndrome (ORPHA:370010).