Phenotypes for disease #05688 (ODCD (odontochondrodysplasia (ODCD, osteochondrodysplasia)), OMIM:184260)

14 entries on 1 page. Showing entries 1 - 14.
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AscendingPhenotype ID     
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Age/Onset     
Phenotype/Onset     
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0000210920 osteochondrodysplasia STLS short stature, scoliosis, carpal coalition, dislocated hips, radial head location, no pes caves;mild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus; decreased elbow extension bilaterally, thoracic levoscoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability Familial, autosomal recessive 14y - - - Johan den Dunnen 00276331
0000210921 osteochondrodysplasia STLS short stature, scoliosis, carpal coalition, dislocated hips, no radial head location, no pes caveslmild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus, lumbar lordosis, mild thoracic scoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability Familial, autosomal recessive 12y - - - Johan den Dunnen 00276332
0000210922 osteochondrodysplasia STLS - Familial, autosomal recessive - - - - Johan den Dunnen 00276333
0000210923 osteochondrodysplasia STLS see paper; ..., short stature, congenital hip dislocation Familial, autosomal recessive - - - - Johan den Dunnen 00276334
0000210924 osteochondrodysplasia STLS see paper; ..., short stature, congenital hip dislocation Familial, autosomal recessive - - - - Johan den Dunnen 00276335
0000210925 osteochondrodysplasia STLS see paper; ..., short stature, congenital hip dislocation Familial, autosomal recessive - - - - Johan den Dunnen 00276336
0000210926 osteochondrodysplasia STLS see paper; ..., short stature, congenital hip dislocation Familial, autosomal recessive - - - - Johan den Dunnen 00276337
0000210927 osteochondrodysplasia STLS see paper; ..., short stature, leg length discrepancy Familial, autosomal recessive - - - - Johan den Dunnen 00276338
0000210929 osteochondrodysplasia STLS see paper; ..., facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis, vertical talus Familial, autosomal recessive 5y - - - Johan den Dunnen 00276340
0000210930 osteochondrodysplasia STLS see paper; ..., bilateral hip dislocations, short upper limbs, normal developmental milestones, delayed speech, flat midface, short upturned nose, thin lips, mild rhizomelic shortening upper limbs with contractures right elbow, genu valgum with mild bowing femur; 2y6m severe bilateral sensorineural hearing loss Familial, autosomal recessive 3y - - - Johan den Dunnen 00276341
0000210931 osteochondrodysplasia STLS radial head dislocation elbow; short stature; scoliosis Familial, autosomal recessive - - - - Johan den Dunnen 00276344
0000210932 osteochondrodysplasia STLS short stature; scoliosis Familial, autosomal recessive - - - - Johan den Dunnen 00276345
0000210933 osteochondrodysplasia STLS radial head dislocation elbow; scoliosis Familial, autosomal recessive - - - - Johan den Dunnen 00276346
0000210934 osteochondrodysplasia STLS see paper; ..., short stature, massive malalignment large joints, kyphoscoliosis, hearing loss, typical facial dysmorphism, bilateral colobomata irides, choroido‐retinae with unilateral affection macula Familial, autosomal recessive 09y - - - Johan den Dunnen 00276347
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