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alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0007085:  alopecia-epilepsy-pyorrhea-intellectual disability syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found