Phenotypes for disease #01026 (HARP (HARP syndrome), OMIM:607236)

22 entries on 1 page. Showing entries 1 - 22.
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AscendingPhenotype ID     
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Phenotype/Onset     
Protein     
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Individual ID     
0000302452 - - pantothenate kinase associated neurodegeneration Familial, autosomal recessive - 07y 01y gait dystonia - LOVD 00410348
0000302453 - - pantothenate kinase associated neurodegeneration Familial, autosomal recessive - 09y 01y gait dystonia - LOVD 00410349
0000302454 - - pantothenate kinase associated neurodegeneration Familial, autosomal recessive - 03y 02y gait dystonia - LOVD 00410350
0000302455 - - pantothenate kinase associated neurodegeneration Familial, autosomal recessive - 02y 01y developmental delay - LOVD 00410351
0000302456 - - pantothenate kinase associated neurodegeneration Familial, autosomal recessive - 08y 01y cervical dystonia - LOVD 00410352
0000302457 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 - atypical pantothenate kinase-associated neurodegeneration Unknown 13y - 10y gait disturbance and vision loss - LOVD 00410353
0000302465 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 7y - 2y - - LOVD 00410361
0000302466 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 11y - 9y - - LOVD 00410362
0000302467 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 15y - 1y - - LOVD 00410363
0000302468 electroretinogram: abnormal; electroretinogram loss pattern: mild cone; ""eye-of-the-tiger"" sign: yes - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 16y - 13y - - LOVD 00410364
0000302469 electroretinogram: normal; ""eye-of-the-tiger"" sign: yes - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 16y - 14y - - LOVD 00410365
0000302470 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 18y - 2y - - LOVD 00410366
0000302471 electroretinogram: normal; ""eye-of-the-tiger"" sign: yes - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 19y - 17y - - LOVD 00410367
0000302472 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 20y - 14y - - LOVD 00410368
0000302473 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 - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 20y - 5y - - LOVD 00410369
0000302474 electroretinogram: abnormal; electroretinogram loss pattern: moderate rod-cone; ""eye-of-the-tiger"" sign: yes - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 21y - 10y - - LOVD 00410370
0000302475 electroretinogram: abnormal; electroretinogram loss pattern: mild rod-cone; ""eye-of-the-tiger"" sign: yes - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 23y - 8y - - LOVD 00410371
0000302476 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 29y - 14y - - LOVD 00410372
0000302477 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 - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 33y - 6y - - LOVD 00410373
0000302478 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 34y - 14y - - LOVD 00410374
0000302479 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: - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 43y - 17y - - LOVD 00410375
0000302480 electroretinogram: normal; ""eye-of-the-tiger"" sign: yes - pantothenate kinase-associated neurodegeneration Familial, autosomal recessive 69y - 23y - - LOVD 00410376
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