Iodotyrosine deiodination defect
- Synonyms
- Congenital Hypothyroidism, IYD-Related; DEIODINASE DEFICIENCY; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 4; IODOTYROSINE DEHALOGENASE DEFICIENCY; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4; Thyroid dyshormonogenesis 4
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
Clinical features
Help- Abnormality of the endocrine system
- Goiter
Goiter
- MedGen UID: 42270
- Concept ID: C0018021
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Goiter
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
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