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skos:definition |
JABL: Defects of ectoderm-derived structures (sparse, slow-growing, fine and hyperpigmented hair, and tooth abnormalities) in association with bone anomalies (craniofacial abnormalities, thoracic and spinal deformities, digital defects, osteopenia, and delayed ossification). Mental development appeared to be normal in earlier reports but psychomotor retardation was observed in later cases.
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