Trichothiodystrophy

Orpha code: 33364OMIM code: 616395

Definicja

A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.

Disease data
Klasyfikacja

Disease

Kod ORPHA
33364
Kod OMIM
616395
Kod ICD10
L67.8
Kod ICD11
-

No additional description.

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