- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Abnormal eyelid morphology (HP:0000492): An abnormality of the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- 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:1812)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Aplasia/Hypoplasia of the cerebellum (HP:0007360). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Aplastic/hypoplastic toenail (HP:0010624): Absence or underdevelopment of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1812)
- Hypoplasia of the zygomatic bone (HP:0010669): Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Abnormality of immune system physiology (HP:0010978): A functional abnormality of the immune system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1812)
These phenotypes are associated with the disease Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome (ORPHA:1812).