All individuals with variants in gene RILPL1

34 entries on 1 page. Showing entries 1 - 34.
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00296733 EG76;FamAPatII1 PubMed: Arno 2016 2-generation family, 1 affected, unaffected parents M no - Asia - - - - retinal disease 5y-nyctalopia (HP:0000662), 18y-field constriction (HP:0001133); fundus peripheral retinal atrophy (HP:0200070), vessel attenuation (HP:?), bony spicules (HP:0007737); 20y-ERG photopic responses severely reduced; Goldmann visual fields reduced to 30 degrees with preserved temporal islands, early posterior subcapsular cataract (HP:0007787) 2 1 Johan den Dunnen
00307082 Pat7 PubMed: Motta 2020, Journal: Motta 2020 - M no Spain white - - - - NDD birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech delay; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT 1 1 Johan den Dunnen
00402876 Fam1PatIII1 PubMed: Yu 2022 3-generation family, 3 affected (2F, M) F - China - - - - - OPDM see paper; ..., bilateral ptosis, limitation eye movement, 26y-diplopia, gradually developed facial muscle weakness, anasal voice, difficulty speaking and swallowing, symmetrical weakness four distal limbs 1 3 Johan den Dunnen
00402877 FamPatII1 PubMed: Yu 2022 mother F - China - - - - - ? see paper; ..., no muscle weakness, postural tremor head and both hands 1 1 Johan den Dunnen
00402878 FamPatII2 PubMed: Yu 2022 uncle M - China - - - - - OPDM see paper; ..., 27y-ptosis; 42y-poor eye movement, nasal voice, muscle weakness facial muscles and distal limbs, no sensory impairment, EMG myogenic changes 1 1 Johan den Dunnen
00402880 PatS1 PubMed: Yu 2022 - M - China - - - - - OPDM see paper; ..., 14y-drooping eyelids, gradually developed limited eye movement; 31y-weakness finger extension; >36y-developed dysarthria, weakness distal lower limbs; 46y-high-arched palate, external ophthalmoplegia, facial weakness, wasting both lower limbs and distal upper limbs, absent deep tendon reflexes , no sensory deficit 1 1 Johan den Dunnen
00402881 patients PubMed: Yu 2022 analysis 20 OPDM-affected individuals with unknown genetic cause - - China - - - - - OPDM - 1 9 Johan den Dunnen
00402882 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00402883 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00402884 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00402885 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00402886 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00402887 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00402888 control PubMed: Yu 2022 - - - China - - - - - Healthy/Control - 1 1 Johan den Dunnen
00426072 Fam1PatIII7 PubMed: Zeng 2022 5-generation family, 6 affected (4F, 2M) F - China - - - - - OPDM ptosis; restricted eye movement, external ophthalmoplegia; dysphagia; dysarthria (nasal voice); facial palsy or atrophy; proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; no DWI hyperintensity signal; raised creatine kinase level 758 U/L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions 1 6 Johan den Dunnen
00426073 Fam1PatIV3 PubMed: Zeng 2022 relative F - China - - - - - OPDM ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 295 U/L 1 1 Johan den Dunnen
00426074 Fam1PatIV4 PubMed: Zeng 2022 relative M - China - - - - - OPDM ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; 434raised creatine kinase level U/L 1 1 Johan den Dunnen
00426075 Fam1PatIV5 PubMed: Zeng 2022 relative F - China - - - - - OPDM ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; high normal creatine kinase level 165 U/L 1 1 Johan den Dunnen
00426076 Fam2PatIII3 PubMed: Zeng 2022 4-generation family, 2 affected brothers M - China - - - - - OPDM ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 710 U?L; EMG myopathic changes 1 2 Johan den Dunnen
00426077 Fam2PatIII4 PubMed: Zeng 2022 brother M - China - - - - - OPDM ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 665 U?L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions 1 1 Johan den Dunnen
00426078 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00426079 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 2 Johan den Dunnen
00426080 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 6 Johan den Dunnen
00426081 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 11 Johan den Dunnen
00426082 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 4763 Johan den Dunnen
00426083 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 71 Johan den Dunnen
00426084 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 112 Johan den Dunnen
00426085 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 24 Johan den Dunnen
00426086 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 3 Johan den Dunnen
00426087 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 2 Johan den Dunnen
00426088 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 10 Johan den Dunnen
00426089 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00426090 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00426091 controls PubMed: Zeng 2022 analysis 5008 control chromosomes F;M - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
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