- Parietal foramina (HP:0002697): The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:60015)
- Abnormal posterior cranial fossa morphology (HP:0000932): An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60015)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60015)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60015)
- Venous malformation (HP:0012721): A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60015)
- Scalp tenderness (HP:0100809): Pain or discomfort of the scalp elicited by palpation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60015)
- 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: Very rare (HP:0040284). (ORPHA:60015)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Multiple exostoses (HP:0002762): Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Aplasia cutis congenita of scalp (HP:0007385): A developmental defect resulting in the congenital absence of skin on the scalp. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Congenital craniofacial dysostosis (HP:0008497). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Abnormal cerebral vein morphology (HP:0012480): An anomaly of cerebral veins. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Encephalomalacia (HP:0040197): Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60015)
These phenotypes are associated with the disease Enlarged parietal foramina (ORPHA:60015).