All individuals with variants in gene PANK2

38 entries on 1 page. Showing entries 1 - 38.
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00144612 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Ataxia (HP:0001251); Short stature (HP:0004322); Cerebral palsy (HP:0100021) 1 1 IMGAG
00292925 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303031 Pat76 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, unclassified; age onset childhood 1 1 Johan den Dunnen
00335132 4088 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - ? 5y-diagnosis visual impairment 2 1 LOVD
00335133 3855 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - ? - 2 1 LOVD
00361536 12DG0533 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID not syndromic; Neurodegeneration 1 1 Johan den Dunnen
00363525 9300045/I-40300 PubMed: Beheshtian 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - retinal disease see paper; ... 1 3 LOVD
00374431 S-5508 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay, dystonia, tremor, chorea and focal seizures 1 1 Johan den Dunnen
00374432 S-5519 PubMed: Ganapathy 2019 - - - India - - - - - ? Progressive dystonia with oromotor dyskinesia 2 1 Johan den Dunnen
00375425 RP#019 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375427 RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375642 Pat15 PubMed: Srivastava 2014 - - - United States - - - - - ? developmental regression; spastic diplegia; autism spectrum disorder; macrocephaly; seizures; spastic diplegia, dystonia; hyper-reflexia; MRI brain globus pallidus signal changes 1 1 Johan den Dunnen
00387838 M8800174 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00390469 G012676 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - NDD - 2 1 LOVD
00409136 169458 - - F likely - - - - - - NBIA1 Global developmental delay, Gait disturbance, Abnormal cerebral morphology, Gait imbalance, Postural instability, Frequent falls, Falls, Functional motor deficit, Neurodevelopmental delay, Abnormality of movement 1 1 Andreas Laner
00410348 1 (R.B.) PubMed: Sakpichaisakul 2019 - F no Thailand South East Asian - - - - HARP - 1 1 LOVD
00410349 2 (M.Y.) PubMed: Sakpichaisakul 2019 - M no Thailand South East Asian - - - - HARP - 1 1 LOVD
00410350 3 (K.M.) PubMed: Sakpichaisakul 2019 - M no Thailand South East Asian - - - - HARP - 1 1 LOVD
00410351 4 (A.M.) PubMed: Sakpichaisakul 2019 - M yes Thailand Myanmarese - - - - HARP - 1 1 LOVD
00410352 5 (C.O.) PubMed: Sakpichaisakul 2019 - M no Thailand South East Asian - - - - HARP - 2 1 LOVD
00410353 ? PubMed: Han 2016 - F - - - - - - - HARP 10y: postural instability (frequent stumbling), followed by cognitive impairment and progressive dystonia (walking on toes); child complained of a tingling sensation below her ankles and observed recurrent episodes of mood lability; no history of consanguinity or family history of ophthalmologic or neurologic disease; visual acuity: 20/40 both eyes; funduscopy: bilateral temporal optic disc pallor; neurological examination: intact toe gait, but abnormal heel gait; finger-to-nose testing was normal but tandem gait revealed swaying to both sides, which may have been due to lower extremity weakness; Romberg test: negative; electroencephalography, electromyography with motor and sensory velocity studies, and visual evoked potentials: normal limits; biochemical laboratory tests including blood and urine levels of copper, ceruloplasmin, ferritin, complete blood count, liver function, lactate and pyruvate levels, and amino acid and organic acid screenings: normal, with the exception of elevated serum creatine kinase (300 IU/L; normal, 135 IU/L); genetic analysis of mitochondrial DNA and the dominant optic atrophy (OPA1) gene, early-onset torsion dystonia (GAC deletion c.901_903 delGAG), dopa-responsive dystonia (GCH1), and myotonic dystrophy (DM kinase CAG repeats): no mutations; magnetic resonance imaging: unremarkable; 8months later reevaluation because of deterioration of cognitive and motor function, and progression of visual impairment; visual acuity: 20/80 bilaterally, pupillary reactions and eye movements: normal; bilateral temporal optic disc pallor; optical coherence tomography: retinal nerve fiber layer loss; electroretinogram: normal; neurological examination: tendency toward dystonic posturing of the right hand and gait ataxia; repeat brain MRI: symmetric T2 hypointensity without focal hyperintensity that involved the globi pallidi and substantia nigra bilaterally 1 1 LOVD
00410361 1 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: 2 1 LOVD
00410362 2 PubMed: Egan 2005 - M yes - - - - - - HARP visual acuity: normal; color vision: abnormal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: no*; abnormal saccaades: no; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: 1 1 LOVD
00410363 3 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: yes; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: 2 1 LOVD
00410364 4 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes 2 1 LOVD
00410365 5 PubMed: Egan 2005 - M - - - - - - - HARP electroretinogram: normal; ""eye-of-the-tiger"" sign: yes 2 1 LOVD
00410366 6 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: nd; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: 2 1 LOVD
00410367 7 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: normal; ""eye-of-the-tiger"" sign: yes 2 1 LOVD
00410368 8 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: no; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: 2 1 LOVD
00410369 9 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: no; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: y 1 1 LOVD
00410370 10 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: abnormal; electroretinogram loss pattern: moderate rod-cone; ""eye-of-the-tiger"" sign: yes 2 1 LOVD
00410371 11 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: abnormal; electroretinogram loss pattern: mild rod-cone; ""eye-of-the-tiger"" sign: yes 2 1 LOVD
00410372 12 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: noelectroretinogram: normal; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: no*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: yes; abnormal convergence: no; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: 2 1 LOVD
00410373 13 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: could not perform; color vision: could not perform; Goldmann visual fields: could not perform; dysarthria: yes; abnormal gait: yes; bone spicules: yes; electroretinogram: abnormal; electroretinogram loss pattern: responses severely sub-normal for both rod and cone stimuli or indistinguishable from noise; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: nd; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: yes; blepharospasm: y 1 1 LOVD
00410374 14 PubMed: Egan 2005 - M - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: nasal depression; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: abnormal; electroretinogram loss pattern: moderate rod-cone; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes*; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: no; abnormal optokinetic responses: yes; alternating skew deviation: no; blepharospasm: 2 1 LOVD
00410375 15 PubMed: Egan 2005 - F - - - - - - - HARP visual acuity: normal; color vision: normal; Goldmann visual fields: normal; dysarthria: yes; abnormal gait: yes; bone spicules: no; electroretinogram: normal; ""eye-of-the-tiger"" sign: yes; neuro-ophthalmologic characteristics: Adie's pupils: yes; abnormal saccaades: yes; saccadic pursuit: yes; abnormal suppression of the vestibular ocular reflex: yes; square wave jerks: no; abnormal convergence: yes; abnormal optokinetic responses: no; alternating skew deviation: no; blepharospasm: 1 1 LOVD
00410376 16 PubMed: Egan 2005 - F - - - - - - - HARP electroretinogram: normal; ""eye-of-the-tiger"" sign: yes 2 1 LOVD
00431880 SIDS107 - - M - Switzerland Europe 00y04m - - - SIDS SIDS 1 1 Cordula Haas
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