Phenotypes associated with the disease Congenital ichthyosis-microcephalus-tetraplegia syndrome (ORPHA:2271):
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Tetraplegia (HP:0002445): Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2271)