All individuals with variants in gene AMFR

19 entries on 1 page. Showing entries 1 - 19.
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Disease     
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00450437 Fam1Pat1 PubMed: Deng 2023 2-generation family, 2 affected brothers, unaffected heterozygous parents/relatives M yes Morocco - - - - - SPG see paper; ..., global developmental delay with mild intellectual disability and progressive peripheral spasticity 1 2 Johan den Dunnen
00450438 Fam1Pat2 PubMed: Deng 2023 brother M yes Morocco - - - - - SPG see paper; ..., global developmental delay with mild intellectual disability, some signs of hypotonia and progressive peripheral spasticity 1 1 Johan den Dunnen
00450439 Fam2Pat3 PubMed: Deng 2023 4-generation family, 3 affected sisters, unaffected heterozygous parents/relatives F yes Egypt Giza - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 3 Johan den Dunnen
00450440 Fam2Pat4 PubMed: Deng 2023 sister F yes Egypt Giza - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 1 Johan den Dunnen
00450441 Fam2Pat5 PubMed: Deng 2023 sister F yes Egypt - - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 1 Johan den Dunnen
00450442 Fam3Pat6 PubMed: Deng 2023 4-generation family, 6 affected, unaffected heterozygous parents/relatives F yes Jordan - - - - - SPG see paper; ..., spastic paraplegia leading to permanent and severe movement disability in lower limbs; requiring extensive physiotherapy; learning problems; IQ test intellectual age 4.5y at 5.5y, IQ79 1 6 Johan den Dunnen
00450443 Fam3Pat7 PubMed: Deng 2023 sister F yes Jordan - - - - - SPG see paper; ..., spastic cerebral quadriplegia leading to permanent and severe movement disability; instable walk, susceptible to falling; intellectual abilities within normal range, requires school with accommodation of movement disability. 1 1 Johan den Dunnen
00450444 Fam3Pat8 PubMed: Deng 2023 sister F yes Jordan - - - - - SPG see paper; ..., spastic quadriplegia leading to permanent and severe movement disability; faces extreme difficulty in walking; intellectual abilities fall under the lower levels for slow learners, requires continuous care 1 1 Johan den Dunnen
00450445 Fam3Pat9 PubMed: Deng 2023 nephew M yes Jordan - - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 1 Johan den Dunnen
00450446 Fam3Pat10 PubMed: Deng 2023 niece F yes Jordan - - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 1 Johan den Dunnen
00450447 Fam3Pat11 PubMed: Deng 2023 niece F yes Jordan - - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 1 Johan den Dunnen
00450448 Fam4Pat12 PubMed: Deng 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives F yes - - - - - - SPG see paper; ..., myopathy, motor delay, unsteady gait, gowers sign 1 1 Johan den Dunnen
00450449 Fam5Pat13 PubMed: Deng 2023 2-generation family, 3 affected, unaffected heterozygous parents/relatives M yes Pakistan Jhelum - - - - SPG see paper; ..., mild intellectual disability, peripheral spasticity and clonus lower limbs, hereditary spastic paraplegia 1 3 Johan den Dunnen
00450450 Fam5Pat14 PubMed: Deng 2023 brother M yes Pakistan Jhelum - - - - SPG see paper; ..., mild intellectual disability, peripheral spasticity and clonus lower limbs, hereditary spastic paraplegia 1 1 Johan den Dunnen
00450451 Fam5Pat15 PubMed: Deng 2023 sister F yes Pakistan - - - - - SPG see paper; ..., peripheral spasticity and clonus of lower limbs, hereditary spastic paraplegia 1 1 Johan den Dunnen
00450452 Fam6Pat16 PubMed: Deng 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Pakistan - - - - - SPG see paper; ..., developmental delay, spasticity, ataxia, muscle weakness, learning and speech abnormalities, mild-scoliosis; 22m-speeak, 29m-walk; IQ59, mild intellectual disability last examination, delayed fine motor skills, delayed motor skills, spasticity, sleeping distress. 1 1 Johan den Dunnen
00450453 Fam7Pat17 PubMed: Deng 2023 5-generation family, 2 affected, unaffected heterozygous parents/relatives F yes Syria - - - - - SPG see paper; ..., developmentall delay, motor delay, abnormal gait, hereditary spasticity 1 2 Johan den Dunnen
00450454 Fam7Pat18 PubMed: Deng 2023 brother M yes Syria - - - - - SPG see paper; ..., developmentall delay, motor delay, abnormal gait, hereditary spasticity 1 1 Johan den Dunnen
00450455 Fam8Pat19 PubMed: Deng 2023 5-generation family, 2 affected, unaffected heterozygous parents/relatives M yes Egypt - - - - - SPG see paper; ..., non complicated hereditary spastic paraplegia 1 2 Johan den Dunnen
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