All individuals with variants in gene CEP120

9 entries on 1 page. Showing entries 1 - 9.
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00058830 - - - F yes Italy - - - - - JBTS She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Midly ventriculomegaly 1 1 Enza Maria Valente
00058831 - - - M no United States - - - - - JBTS He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual, abnormal ocular movements were observed in this proband. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CC hypoplasia 2 1 Enza Maria Valente
00058832 - - - M yes Palestine - - - - - JBTS He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. 1 1 Enza Maria Valente
00058833 - - - F no India - - - - - JBTS She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Strabismus is reported. 2 1 Enza Maria Valente
00058834 - - fetus, terminated pregnancy M yes Turkey - <00y00m00d - - - MKS1 Presence of cystic dysplastic kidneys, occipital encephalocele, and polydactyly. In addition, post-mortem examination after pregnancy termination (23gw) disclosed a narrow bell-shaped thorax with short ribs, rhizomelic limb shortening, bowing of long bones, microphthalmia, oral-facial defects (lobulated tongue with multiple frenula and cleft soft palate), ambiguous genitalia and anal atresia. Data on liver involvement was not available. 1 1 Enza Maria Valente
00058835 - - fetus, terminated pregnancy M no Belgium - <00y00m00d - - - JBTS Fetus (SW-476410) was diagnosed in utero with tecto-cerebellar dysraphia with occipital encephalocele findings in the spectrum of JS, due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the MTS. In addition, post-mortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of limbs. Liver and kidneys were normal, and no polydactyly was observed. 2 1 Enza Maria Valente
00331351 11DG0416 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Stillbirth, Skeletal dysplasia, Polydactyly, Narrow chest, Limb undergrowth, Syndactyly, CeNo 1 1 LOVD
00331352 13DG1526 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Narrow chest, Abnormal facial shape, Relative macrocephaly, Hypertelorism, Median cleft No 1 1 LOVD
00407358 RP-83 PubMed: Borràs 2013 - - - Spain Spanish - - - - retinal disease - 1 1 LOVD
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