All diseases

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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00776 BFLS Borjeson-Forssman-Lehmann syndrome (BFLS) 301900 XLR 1 1 PHF6 - deep-set eyes, large ears with large lobes; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, rather hypoplastic external genitalia with pubertal delay
00139 ID intellectual disability (ID) - - 2700 2382 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
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