Phenotypes for disease #00858 (Chudley-McCullough syndrome, OMIM:604213)

20 entries on 1 page. Showing entries 1 - 20.
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Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

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Individual ID     
0000060599 Chudley-McCullough syndrome (OMIM:604213) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00081030
0000171846 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 - - Familial, autosomal recessive - - - - - - 00227840
0000171847 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 - - Familial, autosomal recessive - - - - - - 00227841
0000171848 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 - - Isolated (sporadic) - - - - - - 00227842
0000171849 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 - - Familial, autosomal recessive - - - - - - 00227843
0000171850 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 - - Familial, autosomal recessive - - - - - - 00227844
0000171851 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 - - Familial, autosomal recessive - - - - - - 00227845
0000171852 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 - - Familial, autosomal recessive - - - - - - 00227846
0000171853 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 - - Isolated (sporadic) - - - - - - 00227847
0000171854 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; - - Isolated (sporadic) - - - - - - 00227848
0000171855 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 - - Familial, autosomal recessive - - - - - - 00227849
0000171856 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 - - Familial, autosomal recessive - - - - - - 00227850
0000171857 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 - - Isolated (sporadic) - - - - - - 00227851
0000171858 - - - Familial, autosomal recessive - - - - - Gijs Santen 00227852
0000171859 - - - Familial, autosomal recessive - - - - - Gijs Santen 00227853
0000217960 - Chudley-McCullough syndrome - Unknown - - - - - Julia Lopez 00281931
0000217961 - Chudley-McCullough syndrome - Unknown - - - - - Julia Lopez 00281934
0000217962 - Chudley-McCullough syndrome - Unknown - - - - - Julia Lopez 00281936
0000217963 - Chudley-McCullough syndrome - Unknown - - - - - Julia Lopez 00281939
0000217964 - Chudley-McCullough syndrome - Unknown - - - - - Julia Lopez 00281940
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