- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- 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: Very frequent (HP:0040281). (ORPHA:456312)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456312)
- 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:456312)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Abnormal midface morphology (HP:0000309): An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Mild postnatal growth retardation (HP:0001530): A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Secondary microcephaly (HP:0005484): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Proximal placement of thumb (HP:0009623): Proximal mislocalization of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Cerebellar hemisphere hypoplasia (HP:0100307). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456312)
- Shawl scrotum (HP:0000049): Superior margin of the scrotum superior to the base of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- 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: Occasional (HP:0040283). (ORPHA:456312)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Talipes equinovalgus (HP:0001772): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Abnormal hallux morphology (HP:0001844): This term applies for all abnormalities of the big toe, also called hallux. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Generalized myoclonic seizure (HP:0002123): A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Decreased sensory nerve conduction velocity (HP:0003448): Reduced speed of conduction of the action potential along a sensory nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Hyperechogenic pancreas (HP:0006276). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Foot joint contracture (HP:0008366): Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Ulnar deviation of the 3rd finger (HP:0009463): Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Ulnar deviation of the 2nd finger (HP:0009464): Displacement of the 2nd (index) finger towards the ulnar side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Abnormal liver parenchyma morphology (HP:0030146): A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Skeletal muscle fibrosis (HP:0030951): Excessive formation of fibrous bands of scar tissue in between muscle fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
- Aplasia/Hypoplasia of the pancreas (HP:0100800): A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456312)
These phenotypes are associated with the disease Infantile multisystem neurologic-endocrine-pancreatic disease (ORPHA:456312).