Total 56 clinical symptoms reported for Encephalocraniocutaneous lipomatosis
Alopecia |
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Synonyms:Hair loss |
Very frequent |
Global developmental delay |
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.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
Lipodystrophy |
Degenerative changes of the fat tissue.
Synonyms:Inability to make and keep healthy fat tissue |
Very frequent |
Multiple lipomas |
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Synonyms:Multiple fatty lumps |
Very frequent |
Neurodevelopmental abnormality |
A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
|
Very frequent |
Retinopathy |
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Synonyms:Noninflammatory retina disease |
Very frequent |
Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
Subcutaneous nodule |
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Synonyms:Firm lump under the skin; Growth of abnormal tissue under the skin |
Very frequent |
Xanthomatosis |
The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
Synonyms:Xanthomata; Yellow bumps of fatty deposits on skin |
Very frequent |