Phenotypes associated with the disease oculocerebrocutaneous syndrome (OMIM:164180):
- Orbital cyst (HP:0001144): Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). Evidence: IEA. (OMIM:164180)
- 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: IEA. (OMIM:164180)
- Congenital hip dislocation (HP:0001374). Evidence: IEA. (OMIM:164180)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:164180)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: IEA. (OMIM:164180)
- 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: IEA. (OMIM:164180)
- 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: IEA. (OMIM:164180)
- Gray matter heterotopia (HP:0002282): Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Evidence: IEA. (OMIM:164180)
- Cleft ala nasi (HP:0003191): The presence of a notch in the margin of the ala nasi. Evidence: IEA. (OMIM:164180)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:164180)
- Anophthalmia (HP:0000528): Absence of the globe or eyeball. Evidence: IEA. (OMIM:164180)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: IEA. (OMIM:164180)
- Dandy-Walker malformation (HP:0001305): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: IEA. (OMIM:164180)
- Focal dermal aplasia/hypoplasia (HP:0007510). Evidence: IEA. (OMIM:164180)
- Eyelid coloboma (HP:0000625): A short discontinuity of the margin of the lower or upper eyelid. Evidence: IEA. (OMIM:164180)
- Naso-orbital encephalocele (HP:0007115): A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction. Evidence: IEA. (OMIM:164180)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:164180)
- 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: IEA. (OMIM:164180)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: IEA. (OMIM:164180)
- 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: IEA. (OMIM:164180)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: IEA. (OMIM:164180)