Phenotypes for disease #00168 (PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)), OMIM:612674)

26 entries on 1 page. Showing entries 1 - 26.
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Individual ID     
0000046390 - Familial, autosomal recessive 24y - 14y - - 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; sensorineural - Jacopo Celli 00059898
0000046391 - Familial, autosomal recessive 20y - 6y - - 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; sensorineural - Jacopo Celli 00059899
0000046392 - Familial, autosomal recessive 6y - - - - absent tendon reflexes; sensorineural hearing loss; speech and limb ataxia; Cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; cataract sensorineural - Jacopo Celli 00059900
0000046393 - Familial, autosomal recessive 62y - >20y< - - 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 sensorineural - Jacopo Celli 00059901
0000046394 - Familial, autosomal recessive 56y - >30y< - - 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 sensorineural - Jacopo Celli 00059902
0000046395 - Familial, autosomal recessive 46y - - - - 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 sensorineural - Jacopo Celli 00059903
0000046396 - Familial, autosomal recessive 54y - - - - 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 sensorineural - Jacopo Celli 00059904
0000046397 - Familial, autosomal recessive 58y - >20y< - - 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 sensorineural - Jacopo Celli 00059905
0000046398 - Unknown 36y - 10y - - 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 sensorineural - Jacopo Celli 00059906
0000046399 - Unknown 24y - >10y< - - 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 sensorineural - Jacopo Celli 00059907
0000046400 - Unknown 16y - 13y - - 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) sensorineural - Jacopo Celli 00059908
0000046401 - Familial, autosomal recessive 10y - - - - 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 sensorineural - Jacopo Celli 00059909
0000046402 - Familial, autosomal recessive 11y - - - - 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 sensorineural - Jacopo Celli 00059910
0000046403 - Familial, autosomal recessive 26y - - - - 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; sensorineural - Jacopo Celli 00059911
0000046404 - Familial, autosomal recessive 44y - - - - 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 - - Jacopo Celli 00059912
0000046405 - Familial, autosomal recessive 19y - 6y - - 12y-pes cavus, sensory loss, absent tendon reflexes at upper and lower limbs; no sensorineural hearing loss sensorineural - Jacopo Celli 00059913
0000046406 - Familial, autosomal recessive 26y - - - - 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; - - Jacopo Celli 00059914
0000046407 - Familial, autosomal recessive 32y - - - - 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 sensorineural - Jacopo Celli 00059915
0000046408 - Unknown 50y - 17y - - 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; sensorineural - Jacopo Celli 00059916
0000124160 sensory and motor neuropathy and ataxia Familial, autosomal recessive 15y PHARC 36y 15y 28y bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519) progressive - Justine Lerat 00151792
0000124192 - Familial, autosomal recessive - - - - - see paper; ... - - Johan den Dunnen 00151827
0000124193 - Familial, autosomal recessive - - - - - see paper; ... - - Johan den Dunnen 00151828
0000124194 - Familial, autosomal recessive - - - - - see paper; ... - - Johan den Dunnen 00001632
0000124195 - Familial, autosomal recessive - - - - - see paper; ... - - Johan den Dunnen 00151829
0000124196 - Familial, autosomal recessive 31y - - - - see paper; ... - - Johan den Dunnen 00151830
0000155388 - Familial, autosomal recessive - - - - - - - - Abdussalam Azem 00207577
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