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skos:definition |
JABL: A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensitivity it is referred to as IBIDS. Syndromes which have brittle hair, impaired intelligence, decreased fertility, and short stature, but no ichthyosis, are referred to as BIDS (see Amish brittle hair syndrome).
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