Disease #03893

Official abbreviation PRLTS-4
Name Perrault syndrome, type 4 (PRLTS-4)
OMIM ID 615300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene LARS2
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Disease features -
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00056383 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, affected sister/brother (II2), unaffected heterozygous carrier parents F - United Kingdom (Great Britain) Argentina - 0 - - PRLTS-4 see paper; ... LARS2 LARS2 1 2 Leigh Demain
00056384 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no United Kingdom (Great Britain) white - 0 - - PRLTS-4 see paper; ... LARS2 LARS2 2 2 Leigh Demain
00295959 proband (Ⅱ-2) - - F - China - 24y 0 - - PRLTS-4 sensorineural hearing loss (HP:0000407),premature ovarian insufficiency (HP:0008209) LARS2 LARS2 2 1 Zhaoyu Pan
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