Phenotypes for disease #00085 (COH1 (Cohen syndrome, type 1), OMIM:216550)

16 entries on 1 page. Showing entries 1 - 16.
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AscendingPhenotype ID     
Diagnosis/Initial     
Inheritance     
Age/Examination     
Diagnosis/Definite     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Phenotype details     
Protein     
Owner     
Individual ID     
0000020360 - Unknown - - - - - ID without speech, autism, hypotonia, recurrent infection, sleep disturbances, delayed puberty and obesitas, short stature and microcephaly, deep set eyes, hypertelorism, large ears, large nose, short philtrum, full lips. Kyphosis, narrow hands with tapering fingers, partial cutaneous syndactyly of 2nd and 3rd toes and sandal gaps. No ophthalmologic anomalies. - Johan den Dunnen 00024235
0000171342 Cohen syndrome Familial, autosomal recessive 04y06m COH-1 - - - moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour - Johan den Dunnen 00226217
0000171412 Cohen syndrome Familial, autosomal recessive 5y COH-1 - - - intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, normal social behaviour, pet varus - Johan den Dunnen 00226287
0000171413 Cohen syndrome Familial, autosomal recessive 20y COH-1 - - - severe intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mild mitral insufficiency - Johan den Dunnen 00226288
0000171414 Cohen syndrome Familial, autosomal recessive 1y6m COH-1 - - - mild/moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), no neutropenia, joint hyperlaxity, abnormal social behaviour, leg asymmetry - Johan den Dunnen 00226289
0000171415 Cohen syndrome Familial, autosomal recessive 19y COH-1 - - - moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, intrauterine growth retardation, hip asymmetry - Johan den Dunnen 00226290
0000171416 Cohen syndrome Familial, autosomal recessive 17y COH-1 - - - moderate intellectual disability, microcephaly (3rd centile), typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity - Johan den Dunnen 00226291
0000171417 Cohen syndrome Familial, autosomal recessive 19y COH-1 - - - mild/moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour - Johan den Dunnen 00226292
0000171418 Cohen syndrome Familial, autosomal recessive 3y6m COH-1 - - - moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, neonatal hypotonia - Johan den Dunnen 00226293
0000171419 Cohen syndrome Familial, autosomal recessive 6y3m COH-1 - - - moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, no joint hyperlaxity, abnormal social behaviour, syndactyly (2nd/3rd toes) - Johan den Dunnen 00226294
0000171420 Cohen syndrome Familial, autosomal recessive 52y COH-1 - - - intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, breast cancer, bilateral cataract - Johan den Dunnen 00226295
0000171421 Cohen syndrome Familial, autosomal recessive 51y COH-1 - - - intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, breast cancer, bilateral cataract - Johan den Dunnen 00226296
0000171422 Cohen syndrome Familial, autosomal recessive 45y COH-1 - - - moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mitralic insuficiency - Johan den Dunnen 00226297
0000171423 Cohen syndrome Familial, autosomal recessive 40y COH-1 - - - moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity - Johan den Dunnen 00226298
0000171424 Cohen syndrome Familial, autosomal recessive 2y4m COH-1 - - - moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour - Johan den Dunnen 00226299
0000171439 Cohen syndrome Familial, autosomal recessive - COH-1 - - - see paper; ... - Johan den Dunnen 00226316
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