All individuals with variants in gene ERLIN1

10 entries on 1 page. Showing entries 1 - 10.
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00095122 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 3 affected (2F, M), 3 unaffected siblings, unaffected heterozygous carrier parents, patient 786-V-3 M yes - - - - added by student Jente Houweling - SPG 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) 1 3 Johan den Dunnen
00095123 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affecteds, 2 unaffected siblings, 2 unaffected heterozygous carrier parents (consanguineous), 1098-IV-3 M - - - - - added by student Merel van Kan - neuropathy (CCT5) tiptoe walking (HP0030051)spasticity of lower limbs (HP0002061)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)absent achilles reflex (HP0003438)no plantar tendon reflex (-HP:0003487)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380) 1 2 Johan den Dunnen
00095124 - PubMed: Novarino 2014, Journal: Novarino 2014 brother of 1098-IV-3 M - - - - - added by student Merel van Kan - neuropathy (CCT5) tiptoe walking (HP0030051)spasticity (HP0001257)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)increased deep tendon reflex in lower limbs (HP0002395)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380) 1 1 Johan den Dunnen
00095125 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 786-V-3 F yes - - - - added by student Jente Houweling - SPG 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) 1 1 Johan den Dunnen
00095126 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents, Pat1598V2 F - - - - - added by student Seline Keijzer - IAHSP tiptoewalking, spasticity of lower limbs, can walk alone with unsteady gait (postoperation), increased deep tendon reflexes and positive clonus, abnormal gait, plantar reflex 1 2 Johan den Dunnen
00095127 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 1598PatV4 F - - - - - added by student Seline Keijzer - IAHSP tiptoewalking, spasticity of lower limbs, can walk alone mild scissors gait, increased deep tendon reflexes and positive clonus, abnormal gait, plantar reflex 1 1 Johan den Dunnen
00143683 ALS-518 - 6 generation family, 10 affected (DNA available from 1F, 3M), unaffected heterozygous carrier parents F yes Turkey white - - - - ALS increased deep tendon reflexes in the lower limbs (HP:0002395), hand interosseous muscle atrophy (HP:0007181), limb fasciculation (HP:0007289) and muscle fibrillation (HP:0010546)in right first interracial, biceps and both tibialis anterior muscles, tongue fasciculations (HP:0001308) 1 4 Ceren Tunca
00143789 ALS-856 - - M yes Turkey - - - - - ALS - 1 1 Ceren Tunca
00143791 ALS-869 - - M yes Turkey - - - - - ALS - 1 1 Ceren Tunca
00143792 ALS-1077 - - M yes Turkey - - - - - ALS - 1 1 Ceren Tunca
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