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TELANGIECTASIA, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, METAPHYSEAL DYSPLASIA, EYE ABNORMALITIES, AND SHORT STATURE(TIMES)

MedGen UID:
1056831
Concept ID:
CN378773
Disease or Syndrome
Synonyms: TIMES; TIMES SYNDROME
 
Gene (location): LRRC8C (1p22.2)
 
OMIM®: 621056

Definition

TIMES syndrome (TIMES) is an autosomal dominant multisystem disorder characterized by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy. Telangiectasia may involve the gastrointestinal tract and cause hemorrhage requiring transfusion (Quinodoz et al., 2024). [from OMIM]

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