Phenotypes associated with the disease Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome (ORPHA:2269):
- 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 frequent (HP:0040281). (ORPHA:2269)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2269)
- Alopecia of scalp (HP:0002293). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2269)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2269)
- Congenital alopecia totalis (HP:0005597): Loss of all scalp hair with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2269)
- Generalized ichthyosis (HP:0007503). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2269)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Cutis laxa (HP:0000973): Wrinkled, redundant, inelastic and sagging skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Generalized hyperkeratosis (HP:0005595). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Eclabion (HP:0012472): A turning outward of the lip or lips, that is, eversion of the lips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2269)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2269)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2269)
Not associated with this disease:
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: TAS. (ORPHA:2269)
- Abnormal macular morphology (HP:0001103): A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades. Evidence: TAS. (ORPHA:2269)
- 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. (ORPHA:2269)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. (ORPHA:2269)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. (ORPHA:2269)
- Paraplegia (HP:0010550): Severe or complete weakness of both lower extremities with sparing of the upper extremities. Evidence: TAS. (ORPHA:2269)
- Tetraplegia/tetraparesis (HP:0030182): Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. Evidence: TAS. (ORPHA:2269)