All individuals with variants in gene NEMF

23 entries on 1 page. Showing entries 1 - 23.
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00361459 Fam1PatIV3 PubMed: Ahmed 2021 5-generation family, 8 affected (2F, 6M) M yes Pakistan - - - - - ? OFC 53.4cm (<20th), length 143.3cm (<1), weight 31.8kg (<1); delayed motor milestones, 2y-walk (with aid); 3y-delayed speech development; moderate intellectual disability; strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head normal 1 6 Johan den Dunnen
00361460 Fam1PatIV6 PubMed: Ahmed 2021 - F yes Pakistan - - - - - ? delayed motor milestones, 4y-walk; 3y-delayed speech development; moderate intellectual disability; normal eye movements; dysarthria; no scoliosis; MRI head cerebral atrophy (bilateral) 1 1 Johan den Dunnen
00361461 Fam1PatIV7 PubMed: Ahmed 2021 - M yes Pakistan - - - - - ? OFC 55.9cm (<20th), length 121.9cm (<1), weight 70kg (> 50th); delayed motor milestones, 8y-walk; 2y-delayed speech development; moderate intellectual disability; strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy (bilateral) 1 1 Johan den Dunnen
00361462 Fam1PatIV8 PubMed: Ahmed 2021 - F yes Pakistan - - - - - ? OFC 53.3cm (<20th), length 143.3cm (<1), weight 40kg (<1); delayed motor milestones, 3y-walk; 3y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; MRI head cerebral atrophy 1 1 Johan den Dunnen
00361463 Fam1PatIV13 PubMed: Ahmed 2021 - M yes Pakistan - - - - - ? OFC 54.6cm (<20th), length 152.4cm (<1), weight; delayed motor milestones, 2y-walk; 3y-delayed speech development; moderate intellectual disability; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy 1 1 Johan den Dunnen
00361464 Fam1PatIV14 PubMed: Ahmed 2021 - M yes Pakistan - - - - - ? OFC 55.8cm (50th), length 143.3cm (<1), weight 40kg (<1); delayed motor milestones, 3y-walk; 4y-delayed speech development; Moderate ID; strabismus; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy 1 1 Johan den Dunnen
00361465 Fam1PatIV18 PubMed: Ahmed 2021 - M yes Pakistan - - - - - ? OFC 55.9cm (20th), length 152.4cm (<1), weight 70kg (> 50th); delayed motor milestones, 3y-walk; 3y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy 1 1 Johan den Dunnen
00361466 Fam1PatIV19 PubMed: Ahmed 2021 - M yes Pakistan - - - - - ? OFC 51cm (<1), length 146.3cm (<1), weight 36.5kg (<1); delayed motor milestones, 3y-walk; 2y-delayed speech development; mild intellectual disability; normal eye movements; no dysarthria; scoliosis; MRI head cerebral atrophy 1 1 Johan den Dunnen
00361467 Fam2PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Slovenia - - - - - ? see paper; ..., OFC (75th), length (90th), weight (99th), BMI 32.3; no delayed motor milestones, 15m-walk; no delayed speech development; mild intellectual disability; Impaired smooth–pursuit and saccade eye movement; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; 10y-metabolic syndrome with insulin resistance, 9y-hypothyroidism; no upper limb atrophy (distal/proximal), normal upper limb tone, no lower limb weakness, normal upper limb reflexes, no upper limb sensory problems, no hand deformity, no lower limb atrophy (distal/proximal), normal lower limb tone, lower limb weakness (distal/proximal), feet dorsiflexion, normal lower limb reflexes, no lower limb sensory problems, left foot varus deformity, left foot inversion while walking, no spasticity, no ataxia 1 2 Johan den Dunnen
00361468 Fam2PatII3 PubMed: Ahmed 2021 - F - Slovenia - - - - - ? see paper; ..., OFC (50th), length (92nd), weight (52nd), BMI 24.3; delayed motor milestones, 18m-walk with aid; delayed speech development; mild intellectual disability; Impaired smooth-pursuit and saccade eye movement, convergent strabismus; dysarthria; scoliosis; lower limb weakness, feet equinovarus, hammer toes; 13y-type 1 diabetes, 24y-low vitamin D; upper limb atrophy (distal/proximal), normal upper limb tone, lower limb weakness, finger abduction and thumb opposition, normal upper limb reflexes, no upper limb sensory problems, hand deformity, radial deviation in the elbow and wrist, lower limb atrophy (distal/proximal), m.pretibial > m.gastrocnemius, normal lower limb tone, lower limb weakness (distal/proximal), dorsiflexion and plantar flexion feet and toes, reduced Achilles reflexes, lower limb sensory problems, pallhypestesia toes, left foot varus deformity, high arched feet, bilaterally hammer toes, wide, peroneal gait, no spasticity, no ataxia 1 1 Johan den Dunnen
00361469 Fam3PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - ? see paper; ..., OFC 46cm (< 5th), length 95cm (10th–25th), weight 12kg (< 3rd), BMI 13.3 (< 5th); no delayed motor milestones, 14m-walk; delayed speech development, make 4 word sentence, most words are clear; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; no lower limb weakness, no feet equinovarus, no hammer toes; protruding ears, mild hypermobility of joints, skeletal survey normal except for hind foot deformity; no upper limb atrophy (distal/proximal), normal upper limb tone, no lower limb weakness, normal upper limb reflexes, no upper limb sensory problems, no hand deformity, no lower limb atrophy (distal/proximal), normal lower limb tone, lower limb weakness (distal/proximal), feet dorsiflexion, normal lower limb reflexes, no lower limb sensory problems, bilateral talipes equinovarus more in L>R, foot deformity gives unsteady and side foot walk when running only, no spasticity, no ataxia 1 1 Johan den Dunnen
00361470 Fam4PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - ? see paper; ..., OFC (50th), length 125cm (5th), weight 25kg (5th–10th), BMI 17.28; delayed motor milestones, 2y-walk; delayed speech development,  9y-single words; mild intellectual disability (IQ65); normal eye movements; spondylolisthesis; no lower limb weakness, no feet equinovarus, no hammer toes; MRI head normal; failure to thrive 1 1 Johan den Dunnen
00361471 Fam5PatII1 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - ? see paper; ..., OFC 52.5cm (10th), length 141cm (50th), weight 46.2kg (50th), BMI 18.83; delayed motor milestones, y-walk with aid; 3y-delayed speech development; severe cognitive delay, severe intellectual disability; strabismus, limited abduction both eyes with narrowing pupil's fissure (Duane syndrome Type 1); dysarthria; no scoliosis; limping gait Spasticity in the ankles; MRI head normal; seizure disorder, resolved with time; ADHD; no lower limb sensory problems 1 1 Johan den Dunnen
00361473 FamAUS1PatII3 PubMed: Ahmed 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Australia Syria - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; tremor; kyphosis/scoliosis 1 1 Johan den Dunnen
00361474 FamDEU1PatII3 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany Turkey - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain abnormal; kyphosis/scoliosis 1 2 Johan den Dunnen
00361475 FamDEU1PatII6 - sister F yes Germany Turkey - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; neuropathy (axonal); ataxia; distal muscle atrophy; hypotonia; no respiratory distress; no tremor; MRI brain normal; kyphosis/scoliosis 1 1 Johan den Dunnen
00361476 FamIRN1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; distal muscle atrophy; hypotonia; no respiratory distress; no kyphosis/scoliosis 1 1 Johan den Dunnen
00361477 FamSAU1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain normal; no kyphosis/scoliosis 1 2 Johan den Dunnen
00361478 FamSAU1PatII2 - brother M yes Saudi Arabia - - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; no hypotonia; no respiratory distress; no tremor; MRI brain normal; no kyphosis/scoliosis 1 1 Johan den Dunnen
00361479 FamUSA1PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - ? see paper; ..., no intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; hypotonia; respiratory distress; no tremor; kyphosis/scoliosis 2 1 Johan den Dunnen
00361480 FamUSA2PatII1 - 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - ? see paper; ..., intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; hypotonia; no respiratory distress; no tremor; MRI brain abnormal; no kyphosis/scoliosis 3 1 Johan den Dunnen
00361481 FamUSA3PatII2 - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - ? see paper; ..., no intellectual disability/global developmental delay; speech delay; neuropathy (axonal); no ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; tremor; no kyphosis/scoliosis 1 1 Johan den Dunnen
00361578 12DG0891 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, strabismus, obesity 1 1 Johan den Dunnen
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