Disease #05541 (DBQD (dysplasia, Desbuquois (DBQD)))

Official abbreviation DBQD
Name dysplasia, Desbuquois (DBQD)
OMIM ID -
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 6
Associated with 2 genes CANT1, XYLT1
Associated tissues -
Disease features -
Remarks -
Date created 2018-12-25 13:35:59 +01:00 (CET)
Date last edited N/A


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00210011 23982343-Fam PubMed: Schreml 2014 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - - - - DBQD see paper; ... XYLT1 XYLT1 1 2 Johan den Dunnen
00210012 27030147-Pat PubMed: Jamsheer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Poland - - - - - DBQD see paper; severe short stature of prenatal onset, joint laxity, psychomotor retardation, multiple radiological abnormalities including short metacarpals, advanced bone age, exaggerated trochanters, ... XYLT1 XYLT1 2 1 Johan den Dunnen
00210013 27881841-Fam1 PubMed: Guo 2017 2-generation family, affected sisters, unaffected heterozygous carrier parents F - Turkey - - - - - DBQD see paper; ... XYLT1 XYLT1 1 1 Johan den Dunnen
00210014 27881841-Fam2 PubMed: Guo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - DBQD see paper; ... XYLT1 XYLT1 1 1 Johan den Dunnen
00210015 26601923-FamPat PubMed: Van Koningsbruggen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - DBQD see paper; neonatal short limb skeletal dysplasia with serious medical complication, ... XYLT1 XYLT1 2 1 Johan den Dunnen
00210016 28462984 PubMed: Al-Jezawi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents (cousins) M yes United Arab Emirates - - - - - DBQD see paper; ... XYLT1 XYLT1 1 1 Johan den Dunnen
00427729 C1 PubMed: Palmer 2022 2-generation family, affected brother/sister, asymptomatic carrier mother M - - Europe;white - - - - DBQD, NDD see paper; ..., mild-moderate intellectual disability; Infantile hypotonia; recurrent otitis media, hearing aides; normal vision; Not described.; delayed speech; features on the autism spectrum and obsessiveness; 3m-onset seizures, mixed semiology focal, febrile and non febrile associated, and atonic (drop) attacks; MRI brain normal; height <0.4th centile; OFC 0.4-3rd centile; consistent with desbuquois dysplasia. almond shaped eyes, short upturned nose; constipation; short stature secondary to desbuquois dysplasia; sister has also cleft palate - CLCN4, XYLT1 3 2 Johan den Dunnen
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