Disease #00397 (DBQD2 (dysplasia, Desbuquois, type 2 (DBQD-2)), OMIM:615777)

Official abbreviation DBQD2
Name dysplasia, Desbuquois, type 2 (DBQD-2)
OMIM ID 615777
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene XYLT1
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-03 13:15:44 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00016858 - PubMed: Bui 2014 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F yes Tunisia Tunisian - - - - DBQD2 birth heigth 37cm; hyperlaxity, respiratory distress, hypotonia, flat face, monkey wrench of the femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 24y heigth 111.5 cm (<-6), mild intellectual disability SMC1B, XYLT1 SMC1B, XYLT1 2 2 Marianne Vos (LOVD-team)
00016859 - PubMed: Bui 2014 brother of 24581741-Fam1.1 M yes Tunisia Tunisian - - - - DBQD2 birth heigth 41 cm; hypotonia, narrow, thorax, hip dislocation, flat face, monkey wrench femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 20y height 121 cm (<-6), intellectual disability SMC1B, XYLT1 SMC1B, XYLT1 2 1 Marianne Vos (LOVD-team)
00016881 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) F yes Mauritius Mauritian - - - - DBQD2 birth weight 2000g, lower limb deformity, multiple dislocations (hip, knee), monkey wrench femoral neck, brachymetacarpy, epiphyseal dysplasia; 13y weight 35 kg (-1), height 98 cm (<-6), flessum hips/knees, valgus deformation lower limbs, patella instability, multiple surgeries, toe deformations, mild intellectual disability XYLT1 XYLT1 1 1 Marianne Vos (LOVD-team)
00016882 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) M yes (Belgium) Belgian - - - - DBQD2 birth at term, weight 2570g, height 39cm, OFC 33 cm; transient respiratory problems neonatal period, flat face, low nasal bridge, blue sclerae, cleft palate, short neck, narrow thorax, short limbs, coronal clefts neonatal period thereafter mild platyspondyly, shortening tubular bones, absent ossification distal femoral epiphyses at birth; 12y9m weight 23.7kg (-3.5), height 109.5cm (-6), span 111cm, OFC 50.8cm (-2), flat face, prominent eyes, low nasal bridge, pectus carinatum, narrow thorax, hyperlaxity of fingers/knees (genua valga), broad feet, toe clinodactyly, intellectual disability XYLT1 XYLT1 1 1 Marianne Vos (LOVD-team)
00016883 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) ? yes Turkey Turkish - - - - DBQD2 birth term, heigth 44cm; 3.5m height 48.5cm; head control-2m, hip dislocation (right), knee dislocation, simian creases, hypermobile fingers, flat face, blue sclerae; neonatal period advanced carpal ossification, right hip and bilateral knee dislocation; 8m advanced bone age, elbow dislocation; 11m height 56cm; 5y6m height 84cm (-5.5), coarse and round face, full cheek, long philtrum, mild micrognathia, hypermobile fingers, moderate truncal obesity, pectus excavatum; sit-9m, walk-3y XYLT1 XYLT1 1 1 Marianne Vos (LOVD-team)
00016887 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) ? yes Turkey Turkish - - - - DBQD2 brith term, heigth 43 cm; 52d height 46 cm, round and flat face, epicanthal folds, short extremities and hands, bilateral simian crease; neonatal period monkey wrench, advanced carpal ossification, short metacarpals and phalanges, widened anterior ribs; 9y patella and elbow subluxation, short iliac wings; 13m height 59 cm; 9y height 99 cm; 13y height 109 cm (-9) OFC 53 cm, coarse and round face, blue sclera, proptotic eyes, short extremities, increased lumbar lordosis, hypermobile joints, pectus excavatum, pes planus, truncal obesity; mild intellectual disability, sit-8m, walk-2y XYLT1 XYLT1 1 1 Marianne Vos (LOVD-team)
00016888 - PubMed: Bui 2014 2-generation family, 1 affected , unaffected heterozygous carrier parents (from same village) ? ? Turkey Turkish - - - - DBQD2 born 36w, heigth 33 cm, weight, 1200 g; cleft palate, subluxation right knee, monkey wrench, advanced carpal ossification, tarsal extra ossification, double proximal femoral epiphyses, short phalanges with short 1st metacarpal; 12m height 50 cm (<-6), hypermobile joints; first 2m respiratory problems; 2y normal motor development XYLT1 XYLT1 1 1 Marianne Vos (LOVD-team)
00054880 Pat PubMed: Silveira 2016 - F yes (Brazil) - - - - - DBQD2 see paper; ... XYLT1 XYLT1 1 1 Cynthia Silveira
00204626 - - - - - - - - - - - DBQD2 with atypical hand anomalies CANT1 CANT1 1 1 celine huber
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