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| Hyperinsulinism v1.46 | YARS | Zornitza Stark Marked gene: YARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.46 | YARS | Zornitza Stark Gene: yars has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.43 | YARS |
Chirag Patel gene: YARS was added gene: YARS was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS were set to PMID: 33490854 Phenotypes for gene: YARS were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Review for gene: YARS was set to RED Added comment: Multisystemic disorder characterized by cholestatic hepatitis, poor feeding, poor overall growth, and hypoglycemia apparent from infancy. Most have variable global developmental delay. Additional common features include sensorineural deafness and retinal abnormalities with visual defects. Some patients have pancreatic dysfunction, hypothyroidism, and primary amenorrhea. PMID: 33490854- only 1 case of hyperinsulinaemic hypoglycaemia, Sources: Literature |
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