All individuals with variants in gene CLPP

15 entries on 1 page. Showing entries 1 - 15.
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00056386 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) Arab - - - - PRLTS3;DFNB81 see paper; ..., Perrault syndrome (PRTLS) 1 1 Leigh Demain
00081706 - manuscript submitted, PMID will become be available consanguineous family, consisting of index child and brother who were diagnosed with Perrault syndrome type 3 with neurological symptoms (WES approach), one healthy sibling M yes Morocco African - - yes, pedigree only supportive treatment PRLTS3;DFNB81 Sensorineural hearing loss (HP:0000407) epilepsy, seizures (HP:0001250) White matter affected (MRI), periventricular, (HP:0002500),(HP:0002518) spastic ataxia (HP:0002497) psychomotor retardation (HP:0001263) autism (HP:0000717) 1 1 Tom Theunissen
00081707 - manuscript submitted, PMID will become available single index patient from non-consanguineous parents was diagnosed with Perrault syndrome type 3, involving neurological symptoms. Patient was identified by screening the Amsterdam brain-MRI database containing over 3000 leukoencephalopathy cases. M no - white - - pedigree no PRLTS3;DFNB81 sensorineural hearing loss (HP:0000407) psychomotor retardation (HP:0001263) white matter abnormalities, periventricular (MRI) (HP:0002500), (HP:0002518) spastic ataxia (HP:0002497) sensorimotor neuropathy (HP:0007141) stunted growth (HP:0001510) 2 1 Tom Theunissen
00081708 - PMID will become available single index patient from non-consanguineous parents was diagnosed with Perrault syndrome type 3, involving neurological symptoms. Patient was identified by screening the Amsterdam brain-MRI database containing over 3000 leukoencephalopathy cases. M no - white - - - no PRLTS3;DFNB81 sensorineural hearingloss (HP:0000408) psychomotor delay (HP:0001263) spastic diplegia (HP:0001264) microcephaly (HP:0000252) growth delay (HP:0001510) 2 1 Tom Theunissen
00087075 - PubMed: Jenkinson 2013, Journal: Jenkinson 2013 2-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistani - - - - PRLTS see paper; profound congenital sensorineural hearing loss, premature ovarian failure, short stature, microcephaly, seizures, moderate learning difficulties, truncal/cerebellar ataxia with signs of lower limb spasticity, ... 1 3 Johan den Dunnen
00087076 - PubMed: Jenkinson 2013, Journal: Jenkinson 2013 2-generation family, 4 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - PRLTS see paper; hearing loss, primary amenorrhea, hypogonadism, ... 1 4 Johan den Dunnen
00087077 - PubMed: Jenkinson 2013, Journal: Jenkinson 2013 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - PRLTS see paper; profound congenital sensorineural hearing loss, no additional self-reported medical problems; formal evaluation hormone profiles not possible, ... 1 3 Johan den Dunnen
00087079 - PubMed: Lerat 2016, Journal: Lerat 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Algeria - - - - - PRLTS severe deafness, age onset 3y/6y resp., progressive, Amenorrhea II (age onset 22y/33y), no neurological symptoms 1 2 Johan den Dunnen
00087080 - PubMed: Ahmed 2015, Journal: Ahmed 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - Saudi Arabia - - - - - PRLTS see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ... 1 3 Johan den Dunnen
00087081 - PubMed: Dursun 2016, Journal: Dursun 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - - - - PRLTS no neurological findings, sensory neuronal hearing loss; female only had secondary amenorrhea, gonadal dysgenesis 1 2 Johan den Dunnen
00285270 - PubMed: Jenkinson 2013, PubMed: Szafranski 2015 - - - - - - - - - PRLTS - 1 1 Global Variome, with Curator vacancy
00285271 - PubMed: Szafranski 2015, PubMed: Jenkinson 2013, PubMed: Jenkinson 2012 - - - - - - - - - PRLTS - 1 1 Global Variome, with Curator vacancy
00285272 - PubMed: Ain 2007, PubMed: Jenkinson 2013, PubMed: Rehman 2011, PubMed: Szafranski 2015 - - - - - - - - - PRLTS - 1 1 Global Variome, with Curator vacancy
00428056 Pat58955;R96820 PubMed: Kumar 2022, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - ? uneventful pregnancy, born at term, weight 2755 g, length 49 cm, OFC 37 cm; 1w-muscular weakness; 2m- microcephaly (<3rd percentile), generalized muscular hypotonia, ECG mild hypertrophic cardiomyopathy; metabolic acidosis, elevated lactate level; MRI brain 3m-normal; progressive developmental delay, persistent microcephaly, deafness; chronic feeding difficulties; epilepsy (West-syndrome); 5y-microcephaly, deafness, severe psychomotor retardation, moderate left ventricular hypertrophy 1 1 Johan den Dunnen
00435262 261306 - - F yes ? (unknown) Arabian - - - - PRLTS3;DFNB81 Hearing impairment, Intellectual disability, Neurodevelopmental delay, Short stature, Spasticity 1 1 Andreas Laner
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