- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 6/31. (PMID:32553196)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: PCS. Frequency: 2/33. (PMID:32553196)
- 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: 29/35. (PMID:32553196)
- 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: 18/33. (PMID:32553196)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 9/36. (PMID:32553196)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: PCS. Frequency: 4/31. (PMID:32553196)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 10/29. (PMID:32553196)
- 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: PCS. Frequency: 34/37. (PMID:32553196)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: PCS. Frequency: 10/31. (PMID:32553196)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 26/35. (PMID:32553196)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 29/35. (PMID:32553196)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 3/35. (PMID:32553196)
- Decreased head circumference (HP:0040195): An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. Evidence: PCS. Frequency: 7/34. (PMID:32553196)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: PCS. (PMID:32553196)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 8/35. (PMID:32553196)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:32553196)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 23/32. (PMID:32553196)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 6/38. (PMID:32553196)
These phenotypes are associated with the disease Vissers-Bodmer syndrome (OMIM:619033).