Disease #03999 (SHFYNG (Schaaf-Yang syndrome (SHFYNG)), OMIM:615547)

Official abbreviation SHFYNG
Name Schaaf-Yang syndrome (SHFYNG)
OMIM ID 615547
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene MAGEL2
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00080892 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - SHFYNG Schaaf-Yang syndrome (OMIM:615547) MAGEL2 MAGEL2 1 1 Daniel Trujillano
00165095 Pat1 PubMed: Negishi 2019 - F no Japan - 05y - - - SHFYNG see paper; ... MAGEL2 MAGEL2 1 1 Yutak Negishi
00165096 Pat2 PubMed: Negishi 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - 3y - SHFYNG see paper; ... MAGEL2 MAGEL2 1 1 Yutak Negishi
00165097 Pat3 PubMed: Negishi 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - 01y - - - SHFYNG see paper; ... MAGEL2 MAGEL2 1 1 Yutak Negishi
00165098 Pat4 PubMed: Negishi 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - 06y - - - SHFYNG see paper; ... MAGEL2 MAGEL2 1 1 Yutak Negishi
00165099 FamPat5 PubMed: Negishi 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier father and paternal grandmother M no Japan - 23y - - - SHFYNG see paper; ... MAGEL2 MAGEL2 1 2 Yutak Negishi
00165100 FamPat6 PubMed: Negishi 2019 brother M no Japan - 12y - - - SHFYNG see paper; ... MAGEL2 MAGEL2 1 1 Yutak Negishi
00466179 - - - F - Brazil - - - - - SHFYNG Intellectual disability, Obesity - MAGEL2 1 1 Juliana Mazzeu
00467365 family PubMed: Bayat 2018 3-generation family, 12 affected (2F, 10M) M yes Denmark Morocco - - - - SHFYNG see paper; ..., neonatal hypotonia, feeding difficulties, developmental delay, hypogonadismand distal contractures MAGEL2 MAGEL2 2 12 Johan den Dunnen
00467366 Pat1 PubMed: Matuszewska 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Poland - - - - - SHFYNG acc. Patak-31397880 arthrogryposis, hypomimia, high nasal bridge, micrognathia, bitemporal narrowing, high palate, prominent chin, low-set ears, epicanthic fold, club foot, respiratory distress, poor suck, open mouth, developmental delay, autism spectrum disorder, psychomotor delay, short stature - MAGEL2 1 1 Johan den Dunnen
00467367 Pat2 PubMed: Matuszewska 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Poland - - - - - SHFYNG acc. Patak-31397880 polyhydraominos, respiratory failure, apnea, hypotonia, tracheal stoma issues, poor suck, distal arthrogryposis, up-slanting palpebral fissures, bitemporal narrowing, high nasal bridge, low-set ears, prominent chin, micrognathia, developmental delay, autism spectrum disorder - MAGEL2 1 1 Johan den Dunnen
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