Disease #05943 (VERBRAS (Ververi-Brady syndrome syndrome (VERBRAS)), OMIM:617982)

Official abbreviation VERBRAS
Name Ververi-Brady syndrome syndrome (VERBRAS)
OMIM ID 617982
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene QRICH1
Associated tissues -
Disease features -
Remarks -
Date created 2021-05-28 08:24:21 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00374999 Decipher276551 PubMed: Ververi 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - VERBRAS see paper; ..., birth 40w, weight 3.8 kg (75th centile); height 122.7cm (9th-25th), weight 23.3kg (25th), OFCcm 51 (10th); flat malar region, prominent nose, smooth philtrum, wide mouth, thin upper lip, protruberant lower lip; mild developmental delay/intellectual disability; walk-14m; speech first words 24-30m; autism; no raised CK - QRICH1 1 1 Johan den Dunnen
00375000 Decipher272334 PubMed: Ververi 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - VERBRAS see paper; ..., birth 40w, weight 2.8 kg (2nd-9th centile); height 157cm (25th), weight 40.3kg (2nd-9th), OFC 55.5cm (50th-75th); bilateral ptosis, mild hypertelorism, prominent nose, thin upper lip, wide mouth; moderate developmental delay/intellectual disability; walk-24m; speech first words 24m; no autism; 2y-raised CK 440 U/L QRICH1 COL11A2, QRICH1 2 1 Johan den Dunnen
00375001 Decipher270803 PubMed: Ververi 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - VERBRAS see paper; ..., birth 38w, weight 2.4 kg (2nd-9th centile); height 114.4cm (−3 SD), weight 17.7kg (−4 SD), OFC 46cm (−6 SD); brachycephaly, upslanting palpebral fissures, prominent broad nose, broad nasal tip, wide mouth, thin upper lip, low-set cup-shaped ears; mild developmental delay/intellectual disability; walk-22m; speech first words 24-30m; no autism; 18m-raised CK 444 U/L QRICH1 QRICH1 1 1 Johan den Dunnen
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