All individuals with variants in gene ABHD12

66 entries on 1 page. Showing entries 1 - 66.
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00001632 24027063-FamPatIII1 PubMed: Chen 2013 3-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Germany;British - - - - PHARC see paper; ... 2 1 Dong-Hui Chen
00059898 20797687-Fam6Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - United Arab Emirates Arab - - - - PHARC pec cavus from childhood, absent tendon reflexes; abnormal neurography and EMG ; 14y-deaf; mild ataxia; brain MR/CT normal; Indifferent plantar response; 20-ies Retinitis Pigmentosa; 15y-cataract; 1 3 Jacopo Celli
00059899 20797687-Fam6Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - United Arab Emirates Arab - - - - PHARC 4y-pes cavus, absent tendon reflexes; demyelinating polyneuropathy; 6y-sensorineural hearing loss; 2y-gait, limb, speech ataxia; 10y-wheelchair-bound; Cerebellar atrophy (age 3); Extensor plantar response; Retinitis Pigmentosa; cataract; 1 1 Jacopo Celli
00059900 20797687-Fam6Pat3 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - United Arab Emirates Arab - - - - PHARC absent tendon reflexes; sensorineural hearing loss; speech and limb ataxia; Cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; cataract 1 1 Jacopo Celli
00059901 19005174-FamPatIV1 PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/relatives F - Norway Norwegian - - - - PHARC 38y-pes cavus, sensory loss, absent ankle reflexes; demyelinating polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; 38y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 28y-cataract 1 3 Jacopo Celli
00059902 19005174-FamPatIV2 PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009 brother PatIV2 M - Norway Norwegian - - - - PHARC 37y-pes cavus from childhood; demyelinating polyneuropathy; 30-ies sensorineural hearing loss; 37y-gait ataxia; brain MR/CT normal; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 37y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 37y-cataract 1 1 Jacopo Celli
00059903 19005174-FamPatIV4 PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009 third cousin PatIV4 M - Norway Norwegian - - - - PHARC 38y-no pes cavus, sensory loss distally; demyelinating polyneuropathy; childhood sensorineural hearing loss; 43y-gait ataxia, upper limb intention tremor; Cerebellar atrophy; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 46y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 25y-cataract 1 1 Jacopo Celli
00059904 20797687-Fam2Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 2.2 M - Norway Norwegian - - - - PHARC 53y-pes cavus, normal sensibility, reduced tendon reflexes; 20-ies sensorineural hearing loss; no ataxia; no pyramidal tract signs ; 25y-Retinitis Pigmentosa ; ERG flat; 25y-cataract 1 2 Jacopo Celli
00059905 20797687-Fam2Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 2.1 F - Norway Norwegian - - - - PHARC 51y-pes cavus, sensory loss, reduced tendon reflexes; demyelinating/axonal polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; Cerebellar atrophy; Extensor plantar response at lower limbs; 35y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 26y-cataract 1 1 Jacopo Celli
00059906 20797687-Fam3Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - Norway Norwegian - - - - PHARC pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-cataract 1 1 Jacopo Celli
00059907 20797687-Fam4Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - Norway Norwegian - - - - PHARC pec cavus, hammertoes, reduced tendon reflexes in upper and lower limbs; demyelinating polyneuropathy; late in teens sensorineural hearing loss; no ataxia; Slight ventricular assymmetry.No cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; ERG normal; 15y-cataract 1 1 Jacopo Celli
00059908 20797687-Fam5Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - M - Norway Norwegian - - - - PHARC pes cavus, reduced sensibility, reduced tendon reflexes in upper limbs, absent in lower limbs ; demyelinating polyneuropathy; 13y-sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; no Retinitis Pigmentosa; ERG normal; 16y-cataract (slight) 1 1 Jacopo Celli
00059909 20797687-Fam8Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 8.2 M - Algeria - - - - - PHARC absent tendon reflexes of lower limbs, normal sensibility; no sensorineural hearing loss; 4-5y-gait ataxia; Vermian atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract 1 2 Jacopo Celli
00059910 20797687-Fam8Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 8.1 F - Algeria - - - - - PHARC absent tendon reflexes, moderate muscle weakness of lower limbs, normal sensibility; no sensorineural hearing loss; 3-4y-limb and gait ataxia, horizontal nystagmus, dysarthria, dysmetria upper and lower limbs; 15m-delayed walking; action and intention tremor ; Cerebellar atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract 1 1 Jacopo Celli
00059911 20797687-Fam9Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 9.2 M - Algeria - - - - - PHARC pes cavus, sensory loss, reduced tendon reflexes at upper limbs/ absent at lower limbs ; severe demyelinating polyneuropathy; deaf; 4–9y-gait and limb ataxia, horizontal nystagmus, moderate dysarthria, dysmetria at upper and lower limbs ; Vermian atrophy; Extensor plantar response at lower limbs; tongue fasciculations; Retinitis Pigmentosa; cataract; 1 2 Jacopo Celli
00059912 20797687-Fam9Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 9.1 F - Algeria - - - - - PHARC pes cavus, sensory loss, absent tendon reflexes at lower limbs, scoliosis; demyelinating polyneuropathy; sensorineural hearing loss; 7–10y-gait and limb ataxia, cerebellar dysarthria, dysmetria at upper limbs with adiadocokinesia, head titubation ; Vermian atrophy; Extensor plantar response at lower limbs; macroglossia; amblyopia 1 1 Jacopo Celli
00059913 20797687-Fam10Pat2 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 10.2 F - Algeria - - - - - PHARC 12y-pes cavus, sensory loss, absent tendon reflexes at upper and lower limbs; no sensorineural hearing loss 1 2 Jacopo Celli
00059914 20797687-Fam10Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 Sibling 10.1 F - Algeria - - - - - PHARC pes cavus, sensory loss, absent tendon reflexes; severe demyelinating polyneuropathy on nerve biopsy; 6y-sensorineural hearing loss; 6–12y-gait and limb ataxia; brain MR/CT normal; Indifferent plantar response; no Retinitis Pigmentosa; no cataract; 1 1 Jacopo Celli
00059915 20797687-Fam11Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - Algeria - - - - - PHARC pes cavus, sensory loss and absent tendon reflexes at lower limbs; axonal polyneuropathy; sensorineural hearing loss; 16–20y-gait ataxia, dysarthria, dysmetria at upper limbs; Cerebellar atrophy; Extensor plantar response at lower limbs; decreased visual acuity and amblyopia; no cataract 1 1 Jacopo Celli
00059916 20797687-Fam7Pat1 PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - F - United States - - - - - PHARC 34y-pes cavus, hammertoes, sensibility slightly reduced; abnormal neurography and EMG ; 17y-sensorineural hearing loss; 18y-dysarthria, gait ataxia, jerky eye movements, tremor in hands; Cerebellar atrophy Increased signal in periventricular white matter.; Flexor plantar response; spasticity; preserved reflexes; 20-ies Retinitis Pigmentosa; 22y-cataract; 1 1 Jacopo Celli
00080792 24697911-FamW08-1833PatII1 PubMed: Nishiguchi 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - COD cone dystrophy 2 1 Lonneke Haer-Wigman
00100101 PKRD185;61185 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - F yes Pakistan Pakistani - - - - retinal disease RP, deafness 1 1 James Hejtmancik
00151792 15B135 PubMed: Lerat 2017,Journal: Lerat 2017 - M yes France - 36y - - no PHARC bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519) 1 1 Justine Lerat
00151822 24697911-FamRP-1292PatII4 PubMed: Nishiguchi 2014 2-generation family, 4 affecteds (2F, 2M), unaffected carrier parents, PatII4 F no Spain - - - - - PHARC - 2 4 Johan den Dunnen
00151824 24697911-FamRP-1292PatII6 PubMed: Nishiguchi 2014 PatII6 F no Spain - - - - - PHARC - 2 1 Johan den Dunnen
00151825 24697911-FamRP-1292PatII7 PubMed: Nishiguchi 2014 PatII7 M no Spain - - - - - PHARC - 2 1 Johan den Dunnen
00151826 24697911-FamRP-1487PatII2 PubMed: Nishiguchi 2014 2-generation family, 1 affected, unaffected heterozygous father F yes Spain - - - - - PHARC - 3 1 Johan den Dunnen
00151827 22938382-Fam PubMed: Eisenberger 2012 4-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Lebanon - - - - - PHARC see paper; ... 1 2 Johan den Dunnen
00151828 25743180-Fam1 PubMed: Yoshimura 2015 2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents M yes Japan - - - - - PHARC see paper; ... 1 3 Johan den Dunnen
00151829 25743180-Fam2 PubMed: Yoshimura 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Japan - - - - - PHARC see paper; ... 1 1 Johan den Dunnen
00151830 27890673-FamPatII1 PubMed: Tingaud-Sequeira 2017 3-generation family, 1 affected, unaffected heterozygous carrier parents F no Sweden - - - - - PHARC see paper; ... 1 1 Johan den Dunnen
00292899 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 136 Mohammed Faruq
00292900 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00304848 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00308597 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328247 G008991 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - retinal disease - 1 1 LOVD
00328292 W000163 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - retinal disease - 1 1 LOVD
00331625 19676 PubMed: Sun 2018 sporadic case - no China - - - - - HL severe hearing loss 2 1 LOVD
00333806 2 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1a 1 1 LOVD
00335080 5085 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - ? 5y-diagnosis visual impairment 2 1 LOVD
00376783 49 PubMed: Wang 2014 - F - United States - - - - - retinal disease - 1 1 LOVD
00380164 IR_BDC_0012 - - M - Korea, South (Republic) - - - - - RP HP:0030515, HP:0000662, HP:0000613, HP:0001133, HP:0000365, HP:0000510 2 1 Jinu Han
00387503 - PubMed: Bifari 2015 Excels in school M yes Saudi Arabia Saudi - - - - retinal disease - 1 1 LOVD
00390158 G008991 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00390159 W000163 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 1 1 LOVD
00404067 - - - M yes Egypt - - - - - CMT 15-y boy with progressive weakness and wasting of both upper and lower limbs, behavioral abnormalities and hearing loss. He has delayed motor development but normal mental development. His nerve conduction velocity study showed demyelinating peripheral neuropathy. He has bilateral sensorineural hearing loss. 1 1 Sherifa Ahmed Hamed
00404074 - - - F - Egypt - - - - - CMT 7-y old patient with marked developmental delay (crawling started at the age of 3) but no apparent mental delay. progressive weakness and wasting of the upper and lower limbs started at the age of 5. There was feet inward inversion. Nerve conduction velocity study showed demyelinating peripheral neuropathy. There was a family history of 3 paternal cousins (18y female, 16y male, 10ys male) with developmental delay and progressive weakness and wasting of lower limbs, among were a male (18 years old) with additional progressive hearing loss. 2 4 Sherifa Ahmed Hamed
00408696 Pat25 PubMed: Thomas 2022 patient, affected sister, aunt and cousin - no France - - - - - ? - 1 4 Johan den Dunnen
00408936 II-1 PubMed: Frasquet-2018 - - yes Spain Spanish - - - - retinal disease retinopathy, pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile; incipient cataracts in both eyes; gait ataxia, but also dysarthria and mild lower limb dysmetria; mild cerebellar atrophy 1 1 LOVD
00408937 II-3 PubMed: Frasquet-2018 - M yes Spain Spanish - - - - retinal disease mild cerebellar atrophy 1 1 LOVD
00408938 II:1 PubMed: li-2019 - M - China Hunan - - - - retinal disease sensorineural hearing loss, visual acuity, and olfactory decline 1 1 LOVD
00408939 II:5 PubMed: li-2019 - M - China Hunan - - - - retinal disease sensorineural hearing loss, visual acuity, and olfactory decline 1 1 LOVD
00408957 XXVI PubMed: Lerat-2019 - M - France French - - - - retinal disease cataracts, ataxia, moderate to profound auditory neuropathy hearing loss 1 1 LOVD
00408958 Patient A PubMed: Thimm-2020 - M - (Germany) Iraqi - - - - retinal disease bilateral pes cavus, mild stabbing pain in his feet while climbing stairs, and a slight gait disturbance in terms of balance 1 1 LOVD
00408959 Patient B PubMed: Thimm-2020 - M - (Germany) Iraqi - - - - retinal disease bilateral deafness at the age of 18 years and one-sided cochlear implant surgery at the age of 20 years. 1 1 LOVD
00408960 Patient B PubMed: Thimm-2020 - M - (Germany) Iraqi - - - - retinal disease bilateral deafness at the age of 18 years and one-sided cochlear implant surgery at the age of 20 years. 1 1 LOVD
00408961 Patient B PubMed: Thimm-2020 - M - (Germany) Iraqi - - - - retinal disease bilateral deafness at the age of 18 years and one-sided cochlear implant surgery at the age of 20 years. 1 1 LOVD
00431002 AHBD12-1 PubMed: Igelman 2021 - F no - - - - - - retinal disease see paper; ..., cataract; atrophy; no sensorineural hearing loss; no vestibular symptoms 2 1 Johan den Dunnen
00431003 AHBD12-2 PubMed: Igelman 2021 - F no - - - - - - retinal disease see paper; ..., no cataract; atrophy; ffERG severe rod dysfunction, mild cone dysfunction; no sensorineural hearing loss; no vestibular symptoms 2 1 Johan den Dunnen
00431004 AHBD12-3 PubMed: Igelman 2021 - M yes - - - - - - retinal disease see paper; ..., no cataract; Bull's eye; ffERG mild rod-cone dystrophy; no sensorineural hearing loss; no vestibular symptoms 1 1 Johan den Dunnen
00431005 AHBD12-4 PubMed: Igelman 2021 - M no - - - - - - retinal disease see paper; ..., cataract; atrophy; ffERG moderate rod-cone dystrophy, mild cone dysfunction; 20y-moderately progressive sensorineural hearing loss; no vestibular symptoms 1 1 Johan den Dunnen
00431006 AHBD12-5 PubMed: Igelman 2021 - M yes - - - - - - retinal disease see paper; ..., cataract; macular findings Hole; 44y-moderately progressive sensorineural hearing loss; no vestibular symptoms 2 1 Johan den Dunnen
00431007 AHBD12-6 PubMed: Igelman 2021 - M no - - - - - - retinal disease see paper; ..., no cataract; atrophy; 20y-severe progressive sensorineural hearing loss; no vestibular symptoms 2 1 Johan den Dunnen
00434130 Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - CTRCT see paper; ..., nuclear/lamellar cataract, blue punctate opacities 1 3 Johan den Dunnen
00434131 Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - CTRCT see paper; ..., total cataract 1 5 Johan den Dunnen
00434132 Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT see paper; ..., total cataract 1 4 Johan den Dunnen
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