Phenotypes for disease #00325 (SPG (paraplegia, spastic (SPG)))

121 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Phenotype details     
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Inheritance     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
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Individual ID     
0000010356 hereditary spastic paraplegia, type 47 (SPG-47); see article - - Familial, autosomal recessive - - - - - Johan den Dunnen 00011663
0000029689 - - - Familial, autosomal dominant - - 02y? - - David Lynch 00039349
0000029690 - - - Familial, autosomal dominant - - - - - David Lynch 00039350
0000034729 - - - Unknown - - - - - Johan den Dunnen 00047000
0000039681 Pure HSP phenotype including progressive lower limb spasticity, pyramidal weakness with hyperreflexia, extensor plantar reponses, and scissors gait. - - Familial, autosomal recessive 30y - 01y - - Ying Yang 00052956
0000043058 clinical diagnosis of "pure hereditary spastic paraplegia"; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4) - - Unknown - - - - - - 00056433
0000044447 early onset, clinically pure - - Familial, autosomal dominant - - - - - Johan den Dunnen 00057796
0000044484 subclinical signs - - Familial, autosomal recessive 42y - - - - Johan den Dunnen 00057833
0000044562 clinical diagnosis of pure hereditary spastic paraplegia; knowing that SPAST is the mutated gene, the corresponding OMIM is 182601 (SPG-4) - - Unknown - - - - - Christian Beetz 00057909
0000045745 spastic paraplegia, hyperreflexia, dysarthria - - Familial, autosomal recessive 11y - 01y - - Mahmoud Koko 00059240
0000049859 lower limb weakness (HP:0007340), spastic gait (HP:0002064), no scoliosis (-HP:0002650), positive Babinski sign (HP:0003487), normal cranial/spinal MRI - - Familial, autosomal dominant - - 06y - - Johan den Dunnen 00063255
0000049860 lower limb weakness (HP:0007340), spastic gait (HP:0002064), ankle clonus (HP:0011448), no scoliosis (-HP:0002650), mild distal sensory neuropathy (HP:0000763), positive Babinski sign (HP:0003487), normal spinal MRI - - Familial, autosomal dominant - - 40y - - Johan den Dunnen 00063256
0000050865 see paper; .., lower-extremity spasticity, lower-extremity weakness, lower-extremity hyperreflexia, extensor plantar response, abnormal bladder function, foot deformity, dysarthria, upper extremity hyperreflexia - - Familial, autosomal recessive 31y - 20y - - Johan den Dunnen 00064665
0000050866 see paper; ..., age onset 35/36/22/39/24y, lower-extremity spasticity (5), lower-extremity weakness (3), lower-extremity hyperreflexia (5), extensor plantar response (4), no abnormal bladder function, foot deformity (3), dysarthria (5), upper extremity hyperreflexia (5), sensory abnormalities (1), peripheral neuropathy (2), gait ataxia (1), upper extremity ataxia (1), scoliosis (1), amyotrophy (2), ocular movement abnormalities (1) - - Familial, autosomal recessive - - - - - Johan den Dunnen 00064666
0000050867 see paper; ..., age at onset 33/19y, lower-extremity spasticity (2), lower-extremity weakness (1), lower-extremity hyperreflexia (1), extensor plantar response (1), abnormal bladder function (1), foot deformity (2), ataxia (1), ankle clonus (1), mild gait ataxia (1), upperextremity hyperreflexia (1), bilateral ankle clonus (1) - - Familial, autosomal recessive - - - - - Johan den Dunnen 00064667
0000059093 see paper; ... - - Unknown - - - - - Guorui Hu 00079371
0000060352 - - - Unknown - - - - - Gemeinschaftspraxis für Humangenetik Dresden 00080781
0000068435 diagnosed with "hereditary spastic paraplegia" (pure form) - - Unknown - - - - - Christian Beetz 00089030
0000068436 diagnosed with "hereditary spastic paraplegia" (pure form) - - Unknown - - - - - Christian Beetz 00089031
0000073519 thoracic kyphosis (HP:0002942), cerebellar signs (HP:0001317), Pain in extremities (HP:0009763), hyperreflexia (HP:0001347), dysarthria (HP:0001260), borderline personality disorder (HP:0012076), Skeletal muscle atrophy (HP:0003202), Limb fasciculations (-HP:0007289), Impaired vibration sensation at ankles (-HP:0006938), urinary bladder sphincter dysfunction (-HP:0002839), babinski sign (-HP:0003487) - - Familial, autosomal recessive - - 03y - - Johan den Dunnen 00095122
0000073522 thoracic kyphosis (HP:0002942), cerebellar signs (HP:0001317), hyperreflexia (HP:0001347), dysarthria (-HP:0001260), borderline personality disorder (HP:0012076), Skeletal muscle atrophy (HP:0003202), Limb fasciculations (-HP:0007289), Impaired vibration sensation at ankles (-HP:0006938), urinary bladder sphincter dysfunction (-HP:0002839), babinski sign (-HP:0003487), inability to walk (HP:0002540) - - Familial, autosomal recessive - - 13y - - Johan den Dunnen 00095125
0000073533 Tip toe walking, Scissors gait, Spasticity, Dysarthria, Borderline intelligence - - Familial, autosomal recessive - - 01y10m - - Johan den Dunnen 00095138
0000073534 Tip toe walking and scissors gait, Hypertonic, Spastic gait, Pes equinovarus, Normal cognition - - Familial, autosomal recessive - - 01y10m - - Johan den Dunnen 00095139
0000087312 motor neuropathy, ID, mild ataxia hereditary spastic paraplegia SPAX5 Familial, autosomal recessive 05y - - - - Erik-Jan Kamsteeg 00111199
0000141810 Gait difficulties, spastic paraplegia Spastic paraplegia - Familial, autosomal recessive - - 28y - - Inge Meijer 00176991
0000170699 pure HSP - - Unknown - - <01y - - Maartje Pennings 00225586
0000170700 - - - Familial, autosomal dominant - 14y 09y - - Maartje Pennings 00225587
0000170702 - - - Familial, autosomal dominant - - <10y - - Maartje Pennings 00225589
0000170703 - - - Familial, autosomal dominant 38y - 21y - - Maartje Pennings 00225590
0000170704 - - - Familial, autosomal dominant 54y - >18y - - Maartje Pennings 00225591
0000170705 - - - Unknown - - 50y - - Maartje Pennings 00225592
0000170706 - - - Familial, autosomal dominant 50y - <10y - - Maartje Pennings 00225593
0000170707 - - - Unknown 62y - 57y - - Maartje Pennings 00225594
0000170722 - - - Familial, autosomal dominant - - <10y - - Maartje Pennings 00225610
0000170723 - - - Unknown - - <10y - - Maartje Pennings 00225611
0000170724 - - - Familial, autosomal dominant - - 20y - - Maartje Pennings 00225612
0000170725 - - - Unknown - - 30y - - Maartje Pennings 00225613
0000170726 - - - Familial, autosomal dominant - - 01y - - Maartje Pennings 00225614
0000170727 - - - Familial, autosomal dominant - - <10y - - Maartje Pennings 00225616
0000170728 - - - Familial, autosomal dominant - - <02y - - Maartje Pennings 00225617
0000170729 - - - Unknown - - 02y - - Maartje Pennings 00225618
0000170730 - - - Unknown - - <05y - - Maartje Pennings 00225619
0000170737 Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability severe (HP:0010864); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258); Hyperreflexia (HP:0001347); Dysarthria (HP:0001260); Seizures (HP:0001250); Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Inguinal hernia (HP:0000023); Recurrent otitis media (HP:0000403) - Complicated hereditary spastic paraplegia Familial, autosomal recessive - 28y 00y03m - - Thomas Foulonneau 00225621
0000170744 Microcephaly (HP:0000252); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability, mild (HP:0001256); Spastic paraplegia (HP:0001258); Lower limb muscle weakness (HP:0007340); Hyperreflexia (HP:0001347); Impaired vibration sensation in the lower limbs (HP:0002166); Behavioral abnormality (HP:0000708); Developmental regression (HP:0002376); Horizontal nystagmus (HP:0000666); Encephalopathy(HP:0001298); Syndactyly (HP:0001159); Hyperlordosis (HP:0003307); Equinovarus deformity (HP:0008110); Limited pronation/supination of forearm (HP:0006394); Abnormality of the cerebral white matter (HP:0002500); Acute mental change Lysosomal storage disease SPG Familial, autosomal recessive - 14y 01y Hereditary Spastic Paraplegia (ORPHA:685) - Thomas Foulonneau 00225632
0000171330 onset juvenile, hyposthenia, fatigue, proximal muscle weakness lower limbs, normal CPK, EMG mixed spastic paraplegia SPG-4 Familial, autosomal dominant - - - hyposthenia, fatigue - Johan den Dunnen 00183396
0000179983 - hereditary spastic paraplegia - Familial, autosomal dominant - - - - - Johan den Dunnen 00239769
0000179984 - hereditary spastic paraplegia - Isolated (sporadic) - - - - - Johan den Dunnen 00239770
0000179985 - hereditary spastic paraplegia - Isolated (sporadic) - - - - - Johan den Dunnen 00239771
0000179986 - hereditary spastic paraplegia - Isolated (sporadic) - - - - - Johan den Dunnen 00239772
0000179987 - hereditary spastic paraplegia - Familial, autosomal dominant - - - - - Johan den Dunnen 00239773
0000179988 - hereditary spastic paraplegia - Familial, autosomal dominant - - - - - Johan den Dunnen 00239774
0000179989 - hereditary spastic paraplegia - Familial, autosomal dominant - - - - - Johan den Dunnen 00239775
0000179990 - hereditary spastic paraplegia - Familial, autosomal dominant - - - - - Johan den Dunnen 00239776
0000179991 - hereditary spastic paraplegia - Familial, autosomal dominant - - - - - Johan den Dunnen 00239777
0000179992 - hereditary spastic paraplegia - Isolated (sporadic) - - - - - Johan den Dunnen 00239778
0000185686 - - - Familial, autosomal dominant - 17y 13y - - Maartje Pennings 00245844
0000186535 - 1y - Familial, autosomal dominant 04y - 01y - - Maartje Pennings 00246691
0000186536 - - - Familial, autosomal dominant 03y 03y 01y - - Maartje Pennings 00246692
0000186537 - - - Familial, autosomal dominant - - - - - Maartje Pennings 00246693
0000187807 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248838
0000187808 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248839
0000187809 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248840
0000187810 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248841
0000187811 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248842
0000187812 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248843
0000187813 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248844
0000187814 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248845
0000187815 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248846
0000187816 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248847
0000187817 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248848
0000187818 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248849
0000187819 - spastic paraplegia SPG-4 Familial, autosomal dominant - - - - - Johan den Dunnen 00248850
0000199285 The M.bovis BCG lymphadenitis is unlikely to be due to the variant identified in IFNGR1 - - - - - - - - LOVD 00260756
0000203901 see paper; ..., late teens gait ataxia, spasticity, dysphagia; - SPG-76 Familial, autosomal recessive - - - - - Johan den Dunnen 00266121
0000203902 see paper; ... - SPG-76 Familial, autosomal recessive - - - - - Johan den Dunnen 00266122
0000203903 see paper; ... - SPG-76 Familial, autosomal recessive - - - - - Johan den Dunnen 00266123
0000203904 see paper; ... - SPG-76 Familial, autosomal recessive - - - - - Johan den Dunnen 00266124
0000209035 - HSP-TCC SPG11 Familial, autosomal recessive - - - - - Johan den Dunnen 00274061
0000288195 Stature for age Short stature (<-2SD) Head circumference for age Microcephaly (<-3SD) Progressive microcephaly Proportionate short stature. High palate Retrognathia Epicanthus Micrognathia Metopic synostosis Seizures Dystonia Spasticity Quadrispasticity Irritability Encephalopathy Babinski sign Dysmyelinating leukodystrophy Diffuse white matter abnormalities EEG with persistent abnormal rhythmic activity Severe global developmental delay Elevated brain lactate level by MRS Delayed ability to stand Delayed ability to sit Grasp reflex Abnormal eating behavior HSP HPDL infantile neurodegenerative disorder Familial, autosomal recessive - - - - - Baiba Lace 00394995
0000300806 - spastic paraplegia SPG31 Unknown - - 33y - - Johan den Dunnen 00408688
0000300807 - spastic paraplegia SPG8 Unknown - - 30y - - Johan den Dunnen 00408689
0000300808 - spastic paraplegia SPG17 Familial, autosomal dominant - - 46y - - Johan den Dunnen 00408690
0000300809 - spastic paraplegia SPG4 Familial, autosomal dominant - - 51y - - Johan den Dunnen 00408691
0000300810 - spastic paraplegia SPG80 Isolated (sporadic) - - 15y - - Johan den Dunnen 00408692
0000300824 - spastic paraplegia - Unknown - - 03y - - Johan den Dunnen 00408705
0000321840 20y-loss ambulation; normal motor development; no cognitive deficits; mild optic atrophy; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; no ataxia; mild cervical dystonia; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; 30y-lower limbs no cortical potential spastic paraplegia SPG85 Familial, autosomal recessive 53y - 3y - - Johan den Dunnen 00431235
0000321841 22y-loss ambulation; normal motor development; no cognitive deficits; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; vibration/surface/temperature deficits; no ataxia; no extrapyramidal involvement; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; motor evoked potentials upper limbs normal/lower limbs reduced cortical amplitudes; 33y-upper limbs prolonged central latency, lower limbs no cortical potential; MRI cranium/cervical spine normal spastic paraplegia SPG85 Familial, autosomal recessive 34y - 5y - - Johan den Dunnen 00431236
0000321842 11.5y-loss ambulation; delayed motor development; no cognitive deficits; severe optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; generalized, severe muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI significant cerebellar atrophy spastic paraplegia SPG85 Familial, autosomal recessive 12y - 2y - - Johan den Dunnen 00431237
0000321843 still walking; delayed motor development; no cognitive deficits; moderate optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI cerebellar atrophy spastic paraplegia SPG85 Familial, autosomal recessive 11y - 2y - - Johan den Dunnen 00431238
0000321844 still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; visually evoked potentials normal; MRI normal spastic paraplegia SPG85 Familial, autosomal recessive 7y - 2y - - Johan den Dunnen 00431239
0000321845 still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence spastic paraplegia SPG85 Familial, autosomal recessive 4y - 2y - - Johan den Dunnen 00431240
0000321846 still walking; delayed motor development; no cognitive deficits; no oculomotor abnormalities; no dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; no extensor plantar response; no sensory deficits; no ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; normal sensory evoked potentials; MRI cranium/cervical spine normal spastic paraplegia SPG85 Familial, autosomal recessive 4y - 2y - - Johan den Dunnen 00431241
0000321847 still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal spastic paraplegia SPG85 Familial, autosomal recessive 17y - 3y - - Johan den Dunnen 00431242
0000321848 still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal spastic paraplegia SPG85 Familial, autosomal recessive 23y - 3y - - Johan den Dunnen 00431243
0000337344 - - - Familial, autosomal recessive - - - - - Barbara Vona 00448132
0000339497 see paper; ..., global developmental delay with mild intellectual disability and progressive peripheral spasticity spastic paraplegia SPG89 Familial, autosomal recessive 17y7m - - - - Johan den Dunnen 00450437
0000339498 see paper; ..., global developmental delay with mild intellectual disability, some signs of hypotonia and progressive peripheral spasticity spastic paraplegia SPG89 Familial, autosomal recessive 10y3m - - - - Johan den Dunnen 00450438
0000339499 see paper; ..., non complicated hereditary spastic paraplegia spastic paraplegia SPG89 Familial, autosomal recessive 24y - - - - Johan den Dunnen 00450439
0000339500 see paper; ..., non complicated hereditary spastic paraplegia spastic paraplegia SPG89 Familial, autosomal recessive 20y - - - - Johan den Dunnen 00450440
0000339501 see paper; ..., non complicated hereditary spastic paraplegia spastic paraplegia SPG89 Familial, autosomal recessive 7y - - - - Johan den Dunnen 00450441
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