All individuals with variants in gene ADPRHL2

25 entries on 1 page. Showing entries 1 - 25.
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00225464 Fam1PatV1 PubMed: Ghosh 2018, Journal: Ghosh 2018 4-generation family, 9 affected (4F, 5M), unaffected heterozygous carrier parents M yes United Arab Emirates - 04y - - - neurodegeneration 4y-died in sleep; birth normal; early development normal; spoke in sentences but then deteriorated; normal motor development but then deteriorated; 18m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; phenotype exacerbated by illness and/or stress 1 9 Johan den Dunnen
00225465 Fam2PatII2 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - neurodegeneration birth normal; early development normal; slow speech; normal motor development, 2y-deteriorated; normal but then started deteriorating at age 11 yeras; 11y-MRI cerebellar vermis atrophy; 11y-unsteady gait; phenotype exacerbated by illness and/or stress; 11y-myopathic changes on muscle biopsy 1 1 Johan den Dunnen
00225466 Fam3PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - neurodegeneration birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation 1 1 Johan den Dunnen
00225467 Fam4PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - neurodegeneration birth normal; early development normal; normal speech; normal motor development, 2y-deteriorated; generalized tonic-clonic seizure with illness; mild intellectual disability (IQ 60); 3y-EEG mild slowing background activity; 4y-MRI mild cerebellar atrophy; 4y-normal muscle biopsy; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; asthma 1 2 Johan den Dunnen
00225468 Fam5PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - 06y - - - neurodegeneration 6y-died in sleep; birth normal; early development normal; normal until 1.5y but then deteriorated with difficulty speaking; normal motor development, 1y-deteriorated; 24m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG generalized epileptiform activity, slow background; 4y-EMG normal; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, tremors, frequent falling 1 2 Johan den Dunnen
00225469 Fam6PatII3 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - neurodegeneration birth normal; early development normal; speech delayed; normal; mild intellectual disability; EEG normal; 15y-MRI mild cerebellar vermis atrophy, spinal cord atrophy; axonal polyneuropathy; 10y-unsteady gait; phenotype exacerbated by illness and/or stress; distal muscle atrophy, pes cavus deformity, toe abnormality, scoliosis, brisk deep-tendon reflexs, positive Babinski reflex, intentional tremor, ataxia 1 1 Johan den Dunnen
00225470 30401461-Fam1 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Germany - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 2 Johan den Dunnen
00225471 30401461-Fam2 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 1 Johan den Dunnen
00225472 30401461-Fam3 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 1 Johan den Dunnen
00225473 30401461-Fam4 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - - - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 2 Johan den Dunnen
00225474 30401461-Fam5 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Yugoslavia Kosovo - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 1 Johan den Dunnen
00225475 30401461-Fam6 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 1 Johan den Dunnen
00225476 30401461-Fam7 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes China - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 2 Johan den Dunnen
00225477 30401461-Fam8 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy 1 2 Johan den Dunnen
00299639 ADPRHL2 - - F yes Iran Persian 07y? - no none CONDSIAS - 1 1 Ehsan Razmara
00395653 Fam1PatI-IV2 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - neurodegeneration 2y-died in sleep; birth normal; early development normal; 2y-speech few words; normal motor development until death; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; 1 1 Johan den Dunnen
00395654 Fam1PatI-IV3 PubMed: Ghosh 2018 - M yes United Arab Emirates - 7y - - - neurodegeneration 7y-died from seisure; birth normal; early development normal; speech normal until 2.5y but then no further development; normal motor development but then deteriorated; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; 1 1 Johan den Dunnen
00395655 Fam1PatI-IV5 PubMed: Ghosh 2018 - M yes United Arab Emirates - 15y - - - neurodegeneration 15y-died respiratory failure; birth normal; early development normal; speech normal until 3.5y but then deteriorated; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 5y-MRI normal; 3y-unsteady gait; phenotype exacerbated by illness and/or stress; hypotonia with repeated pneumonia, ventilator dependent at time of death 1 1 Johan den Dunnen
00395656 Fam1PatI-IV11 PubMed: Ghosh 2018 - M yes United Arab Emirates - - - - - neurodegeneration birth normal; early development normal; speaks only a few words; normal motor development but then deteriorated; 15m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; can walk but is very unsteady 1 1 Johan den Dunnen
00395657 Fam1PatII-IV2 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - neurodegeneration 2y-died in sleep 1 week after flu-like illness; birth normal; early development normal; normal speech until death; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness 1 1 Johan den Dunnen
00395658 Fam1PatII-IV5 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - neurodegeneration 2y-died fron seizure after playing; birth normal; early development normal; normal speech until death; normal motor development until death; 15m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness 1 1 Johan den Dunnen
00395659 Fam1PatII-IV6(A1) PubMed: Ghosh 2018 - M yes United Arab Emirates - 9y - - - neurodegeneration 9y-died from respiratory failure after long airplane trip; birth normal; early development normal; speech normal until 25y but then deteriorated; normal motor development, 2y-deteriorated; 18m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; nerve biopsy with severe axonal loss; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; repeated pneumonia, repeated cardiac arrest, profound type II muscle fiber atrophy 1 1 Johan den Dunnen
00395660 Fam1PatII-IV7(A2) PubMed: Ghosh 2018 - F yes United Arab Emirates - - - - - neurodegeneration birth normal; early development normal; normal speech but then deteriorated; 14m-walk, 19m-ataxia, poor balance; 16m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; 20m-unsteady gait; phenotype exacerbated by illness and/or stress; normal hearing but then developed severe SNHL, severe kyphoscoliosis, one episode of cardiac arrest 1 1 Johan den Dunnen
00395661 Fam4PatII3 PubMed: Ghosh 2018 - F yes Pakistan - - - - - neurodegeneration birth normal; mild developmental delay; speech delayed; motor development mildly delayed; 9m-onset seizures; generalized tonic-clonic seizure with illness; mild global developmental delay; EEG normal; 11m-MRI normal; phenotype exacerbated by illness and/or stress; 1 1 Johan den Dunnen
00395662 Fam5PatII2 PubMed: Ghosh 2018 - F yes Iran - - - - - neurodegeneration birth normal; early development normal; speaks only a few words; normal motor development, 1.5y-deteriorated; 36m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG normal; 3y-MRI normal; 4y-axonal polyneuropathy; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, progressive external ophthalmoplegia 1 1 Johan den Dunnen
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