Disease #00085 (COH1 (Cohen syndrome, type 1), OMIM:216550)

Official abbreviation COH1
Name Cohen syndrome, type 1
OMIM ID 216550
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 17
Phenotype entries for this disease 16
Associated with 1 gene VPS13B
Associated tissues -
Disease features bushy eyebrows and eyelashes, down-slanting palpebral fissures with a wave-shaped outline, high nasal bridge, low-set columella, and a short, upturned philtrum with prominent central incisors; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); high myopia and retinal dystrophy, narrow hands with slender fingers, narrow feet with sandal gap, pubertal delay and neutropenia
Remarks -
Date created 2012-11-16 14:42:10 +01:00 (CET)
Date last edited 2023-01-03 20:46:21 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00024235 - PubMed: Gilissen 2014 - - - - - - - - - COH1, ID , 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. VPS13B VPS13B 2 1 Johan den Dunnen
00131879 - - - - - Germany - - - - - COH1 - VPS13B VPS13B 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00226217 Pat11A PubMed: Parri 2010, Journal: Parri 2010 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - - - - - - - COH1 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 VPS13B VPS13B 3 2 Johan den Dunnen
00226287 Pat1 PubMed: Katzaki 2007, PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226288 Pat2 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226289 Pat3 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226290 Pat4 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226291 Pat5 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - COH1 moderate intellectual disability, microcephaly (3rd centile), typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity VPS13B VPS13B 1 1 Johan den Dunnen
00226292 Pat6 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226293 Pat7 PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226294 Pat8 PubMed: Katzaki 2007, PubMed: Parri 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - - - - - COH1 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) VPS13B VPS13B 2 1 Johan den Dunnen
00226295 Pat9A PubMed: Parri 2010 2-generation family, affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - COH1 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 VPS13B VPS13B 2 2 Johan den Dunnen
00226296 Pat9B PubMed: Parri 2010 sister F no Italy - - - - - COH1 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 VPS13B VPS13B 2 1 Johan den Dunnen
00226297 Pat10A PubMed: Parri 2010 2-generation family, affected brothers, unaffected heterozygous carrier parents M no - - - - - - COH1 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 VPS13B VPS13B 2 2 Johan den Dunnen
00226298 Pat10B PubMed: Parri 2010 brother M no - - - - - - COH1 moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity VPS13B VPS13B 2 1 Johan den Dunnen
00226299 Pat11B PubMed: Parri 2010 sister M no - - - - - - COH1 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 VPS13B VPS13B 3 1 Johan den Dunnen
00226316 Fam PubMed: Bugiani 2008, PubMed: Parri 2010 7-generation family, 12 affected F;M yes Greece - - - - - COH1 see paper; ... VPS13B VPS13B 1 12 Johan den Dunnen
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