- 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:85168)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85168)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85168)
- Craniofacial dysostosis (HP:0004439): A characteristic appearance resulting from defective ossification of craniofacial bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85168)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85168)
These phenotypes are associated with the disease Craniofacial conodysplasia (ORPHA:85168).