Phenotypes for disease #00397 (DBQD2 (dysplasia, Desbuquois, type 2 (DBQD-2)), OMIM:615777)

9 entries on 1 page. Showing entries 1 - 9.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000015260 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 - - Familial, autosomal recessive 24y - - - - Marianne Vos (LOVD-team) 00016858
0000015261 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 - - Familial, autosomal recessive 20y - - - - Marianne Vos (LOVD-team) 00016859
0000015262 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 - - Familial, autosomal recessive 13y - - - - Marianne Vos (LOVD-team) 00016881
0000015263 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 - - Familial, autosomal recessive 12y09m - - - - Marianne Vos (LOVD-team) 00016882
0000015264 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 - - Familial, autosomal recessive 05y06m - - - - Marianne Vos (LOVD-team) 00016883
0000015265 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 - - Familial, autosomal recessive 13y - - - - Marianne Vos (LOVD-team) 00016887
0000015266 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 - - Familial, autosomal recessive 02y - - - - Marianne Vos (LOVD-team) 00016888
0000041559 see paper; ... - - Familial, autosomal recessive - - - - - A. Mesut Erzurumluoglu 00054880
0000152886 with atypical hand anomalies - - - - - - - - celine huber 00204626
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