Disease #00858

Official abbreviation -
Name Chudley-McCullough syndrome
OMIM ID 604213
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 21
Phenotype entries for this disease 20
Associated with 1 gene GPSM2
Associated tissues -
Disease features -
Remarks -


Individuals

21 entries on 1 page. Showing entries 1 - 21.
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00081030 - Trujillano et al., submitted unaffected parents - - - - - 0 - - Chudley-McCullough syndrome Chudley-McCullough syndrome (OMIM:604213) GPSM2 GPSM2 1 1 Daniel Trujillano
00227840 - - - F ? United States Mennonite >17y 0 - - Chudley-McCullough syndrome severe/profound hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; hydrocephalus, foramen of Monro fenestration; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown GPSM2 GPSM2 2 1 -
00227841 - - - M ? United States Mennonite >21y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; no motor delay; mild, resolved communicative delay; no cognitive impairment; downslanting palpebral fissures, rotated ears, nasal voice; shunted hydrocephalus; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown GPSM2 GPSM2 2 1 -
00227842 - - - F ? United States European >2y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small left cerebellopontine angle cysts GPSM2 GPSM2 2 1 -
00227843 - - - F ? Netherlands European >10y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; no motor delay; no communicative delay; mild, resolved cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst GPSM2 GPSM2 2 1 -
00227844 - - - F ? Netherlands European >4y 0 - - Chudley-McCullough syndrome severe/profound hearing loss; cochlear implant; mild motor delay, mildly increased tone ; mild, resolving communicative delay; mild, resolved cognitive impairment; controlled seizures, breath holding; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; small pineal cyst GPSM2 GPSM2 2 1 -
00227845 - - - F ? United States Mexican American >7y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia large; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small bilateral cerebellopontine angle cysts GPSM2 GPSM2 2 1 -
00227846 - - - M ? United States Mexican American >6y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria extensive; cerebellar dysplasia; moderate interhemispheric and small right cerebellopontine angle cysts GPSM2 GPSM2 2 1 -
00227847 - - - M ? United States Mennonite >1y 0 - - Chudley-McCullough syndrome severe hearing loss; cochlear implant; mild motor delay; mild communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia unable to score due to mass effect; large bilateral cerebellopontine angle cysts GPSM2 GPSM2 2 1 -
00227848 - - - F ? United States Mennonite >25y 0 - - Chudley-McCullough syndrome severe hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; ventriculomegaly (R>L); corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria presentb; cerebellar dysplasia; GPSM2 GPSM2 2 1 -
00227849 - - - M ? United States Mennonite >12y 0 - - Chudley-McCullough syndrome severe hearing loss; no hearing aid; no motor delay; communicative delay; mild cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria extensive; cerebellar dysplasia; no arachnoid cysts, right ventricle herniation into midline GPSM2 GPSM2 2 1 -
00227850 - - - F ? United States Mennonite >15y 0 - - Chudley-McCullough syndrome severe hearing loss; no hearing aid; yes motor delay; communicative delay; mild/moderate cognitive impairment; seizures; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; left cerebellopontine angle cysts GPSM2 GPSM2 2 1 -
00227851 - - - F ? United States Mennonite >4y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; mild communicative delay; mild cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia extensive; frontal polymicrogyria extensive; no cerebellar dysplasia; right cerebellopontine angle cysts GPSM2 GPSM2 2 1 -
00227852 - - - F no Netherlands - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 2 1 Gijs Santen
00227853 - - - F no Netherlands - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 Gijs Santen
00227854 - - - F no Netherlands - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 Gijs Santen
00281931 - PubMed: Doherty 2012, PubMed: Duzkale 2013 - - - - - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 LOVD-team, but with Curator vacancy
00281934 - PubMed: Doherty 2012 - - - - - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 LOVD-team, but with Curator vacancy
00281936 - - - - - - - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 LOVD-team, but with Curator vacancy
00281939 - PubMed: Doherty 2012, PubMed: Schrauwen 2013 - - - - - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 LOVD-team, but with Curator vacancy
00281940 - PubMed: Diaz-Horta 2012 - - - - - - 0 - - Chudley-McCullough syndrome - GPSM2 GPSM2 1 1 LOVD-team, but with Curator vacancy
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