All individuals with variants in gene ARF1

21 entries on 1 page. Showing entries 1 - 21.
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00416550 205242 - prenatal trio Dx after ultrasound abnormalities M no - - - - - - PVNH8 Hydrops fetalis, Fetal akinesia sequence, Elbow flexion contracture, Knee flexion contracture, Talipes equinovarus, Scoliosis 1 1 Andreas Laner
00440608 Pat1 PubMed: Ge 2016 - M - United States - - - - - ? see paper; ..., born at term; developmental disability, attention deficit hyperactivity; weight 70th centile, height 60th centile, OFC 60th centile; otitis media, developmental delay, speech delay, no seizure, EEG normal, MRI brain periventricular heterotopia, diminished white matter 1 1 Johan den Dunnen
00440609 Pat2 PubMed: Ge 2016 - F - - - - - - - PVNH developmental delays, speech delay, seizures; OFC 15y-5th centile, weight 20th centile, height 3th centile, spasticity, regressed in language abilities., MRI brain delay in myelination, cortical thinning, vermis atrophy 1 1 Johan den Dunnen
00440610 Pat3;- PubMed: Ge 2016, PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH no microcephaly; no growth delay; motor delay; not walking; speech delay, 5-6y-first words; severe intellectual disability; normal behaviour; 3y-focal seizures with impaired awareness, absences; hypotonia, spasticity; stereotypies; MRI brain 2m-short dysplastic corpus callosum; Retrocerebellar cyst and possble small vermis; cerebral atrophy; looks microcephalic, low frontal hair line, full eyebrows, high palate, gingival hyperplasia; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; grey hairs, irritated skin on face (because of touching mouth and face continously, dissapears when hands are restricted); normal endocrine system; no sleep disturbance; Scoliosis 1 1 Johan den Dunnen
00440611 Pat1 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH no microcephaly; no growth delay; motor delay; 18m-walk; speech delay, 24m-first words; mild intellectual disability; attention deficit hyperactivity disorder; 3y11m-one tonic-clonic seizure; EEG abnormal due to focal slowing over the right frontoventral temporal region; no hypotonia, no spasticity, no ataxia; MRI brain 3y11m-thin corpus callosum, no splenium; possible focal cortical malformation (L central sulcus and precentral gyrus), no evidence of pachygyria.; morphology normal; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance 1 1 Johan den Dunnen
00440612 Pat2 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH no microcephaly; growth delay; motor delay; no walk yet; speech delay, no speech; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 2y-periventricular nodular heterotopia, thin corpus callosum; prominent forehead, pointed chin; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; bowel constipation; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Sprengel deformity both sides, hypermobility of joints 1 1 Johan den Dunnen
00440613 Pat3 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH no microcephaly; no growth delay; motor delay; 22m-23m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder; 12m-focal seizure; EEG focal epileptic discharges, slow background cerebral activity for age; hypotonia, spasticity; MRI brain 2m-thin corpus callosum; slender nasal bridge, small mouth, bilateral 5th clinodactyly; no hearing loss; mild astigmatism; small patent foramen ovale; rnormal espiratory system; used to be extremely constipated; coronal hypospadias, bilateral small kidneys; mottled skin, cold and red extremities, hyperkeratotic skin on hands, hair unruly, central frontal whorl; normal endocrine system; no sleep disturbance; 1 1 Johan den Dunnen
00440614 Pat4 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; 2y-walk; speech delay, 1y-first words; moderate intellectual disability; no seizures; mild hypotonia; MRI brain 13m2y-normal; looks microcephalic, no other characteristics noted; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, recurrent infections, eosinophilic esophagitis, uses G-tube for feeds in addition to feeds by mouth 1 1 Johan den Dunnen
00440615 Pat5 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; no growth delay; motor delay; 14m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder, anxiety, occasional aggressive behaviors; 3y-two convulsive seizures; EEG persistent diffuse activity, independent sharp waves in left parietal temporal and right central temporal regions; hypotonia; diminished balance, coordination, and core strength; MRI brain 15m/7y-periventricular nodular heterotopia; flat forehead,left exotropia, mildly upslanting palpebral fissures, Robin sequence without cleft, severe crowding clas II malocclusion of middle mixed dentition, micrognathia; left conductive hearing loss, abundant ear wax; amblyopia, exotropia; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, obstructive sleep apnea spontaneously resolved. Awakenings, poor sleep patterns, improved with klonopin. 1 1 Johan den Dunnen
00440616 Pat6 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH microcephaly; no growth delay; motor delay; 23m-walk; speech delay, 1y-first words; intellectual disability; no seizures; no hypotonia, no spasticity, no ataxia; MRI brain thin corpus callosum, short; palpebral fissures upslanted, low-set posteriorly rotated ears, anteversed nostrils, thin upper lip, micrognathism; sensitivity to noise, normal auditory evoked potential; normal vision; rnormal espiratory system; hypospadias, vesico-renal reflux; urogenital system suction difficulties); no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance 1 1 Johan den Dunnen
00440617 Pat7 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; no growth delay; motor delay; speech delay, noo speech yet; irritability; no seizures; EEG normal; Spasticity; myoclonus; MRI brain normal; bilateral cortical dysplasia; morphology normal; bilateral profound sensorineural hearing loss; cortical vision impairment; history of patent foramen ovale, stenosis of left pulmonary artery; stenosis of left pulmonary artery; G-tube dependent; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance 1 1 Johan den Dunnen
00440618 Pat8 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH no microcephaly; growth delay; motor delay; 23m-walk; speech delay, 18m-first words; moderate intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 16m-thin corpus callosum; slight epicanthal folds, prominent forehead, short nose, anteverted nares, rounded nasal tip, flatter nasal bridge, prominent philtrum; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; persistent elevation of ALT/AST, G-tube nutrition (difficulty swallowing); normal urogenital system; no skin/hair/nail anomalies; small endocrine system; sleep disturbance, severe obstructive sleep apnea, improved by tonsillectomy, adenoidectomy, supraglottaplasty; pectus deformity of chest 1 1 Johan den Dunnen
00440619 Pat9 PubMed: de Sainte Agathe 2023 - M - - - - - - - PVNH no microcephaly; no growth delay; motor delay; 27m-walk; speech delay, 2y-first words; no seizures; EEG rare bifrontal epileptiform discharges during sleep; no hypotonia, no spasticity, no ataxia; MRI brain normal; mild bilateral ptosis, widely spaced eyes, upslanted palpebral fissures, broad mouth with everted lower lip and full lips, pointed chin, retrognathia, tapered fingers; L sensorineural hearing loss (aided); myopia, prescribed glasses; no cardiac anomalies; rnormal espiratory system; elevated LFTs, 1y-liver biopsy negative cholestasis, sparse patchy lobular necroinflammatory, no sign portal inflamm, no hemochromatosis, negative staining for glycogen storage disease, normal mitochondrial; normal urogenital system; recurrent pernio-like rashes that wax and wane (erythematous papules, macules); normal endocrine system; sleep disturbance, awakenings; WGS negative for Aicardi-Goutierres genes 1 1 Johan den Dunnen
00440620 Pat10 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; no growth delay; motor delay; 36m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; 4y-partial epilepsy; EEG abnormal; hypotonia; motor stereotypie; MRI brain 12y-thin corpus callosum; cerebral and cerebellar atrophy; long palpebral fissures, prominent nose, hight nasal root, short philtrum, dental malposition, microretrognathia; no hearing loss; astygmatism; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; 2 hyperchromic spots; normal endocrine system; no sleep disturbance 1 1 Johan den Dunnen
00440621 Pat11 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH microcephaly; no growth delay; motor delay; 23m-walk; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder, autism, mild agression when at home; 2m-infantile spasms; EEG 4m-modified hypsarhythmia, 3y-normal; hypotonia; stereotopies; MRI brain 4m-thin corpus callosum; morphology normal; no hearing loss; hyperopia; no cardiac anomalies; rnormal espiratory system; intolerance to dairy and carbohydrates; retractile testes but otherwise Normal; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance 1 1 Johan den Dunnen
00440622 Pat12 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; growth delay; motor delay; 34m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia, ataxia; myoclonus, stereotypies; MRI brain 2y-thin corpus callosum; cerebelar hypoplasia; blepharophimosis, low-set ears, short philtrum, retroprognatism, clinodactyly; no hearing loss; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance 1 1 Johan den Dunnen
00440623 Pat13 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; no growth delay; motor delay; 4y-walk assisted; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder; 2y-dialeptic/focal seizure right arm, GTC; EEG abnormal; hypotonia, spasticity, ataxia; dyskinesia/dystonia; MRI brain thin corpus callosum; gyration abnormality, polymicrogyria (frontal and parietal), thin myelon, cystic structure frontal right, enlarged ventricles; high palate; previously conductive hearing loss, currently no problems; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; recurrent urinary tract infection since neonate; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, 1-3h awake during night time 1 1 Johan den Dunnen
00440624 Pat14 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH microcephaly; growth delay; motor delay; 40m-walk assisted; speech delay, 2y-first words; severe intellectual disability; normal behaviour; no seizures; hypotonia, ataxia; MRI brain periventricular nodular heterotopia; microcephalic; morphology normal; no hearing loss; severe strabismus; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; short endocrine system; no sleep disturbance 1 1 Johan den Dunnen
00440625 Pat15 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH no microcephaly; no growth delay; motor delay; 26m-walk; speech delay; moderate intellectual disability; no seizures; mild hypotonia, ataxia; waddling gait; MRI brain periventricular nodular heterotopia; high forhead, hypertelorism, anteverted nares, narrow downslanted palpebral fissures; hearing loss; normal vision; interventricular communication; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; polyneuropathy 1 1 Johan den Dunnen
00440626 Pat16 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - PVNH no microcephaly; no growth delay; motor delay; 3y-no walk; speech delay, no speech; intellectual disability; normal behaviour, no aggression, no self-injury; 3m-infantile spasms, later absence, "drop attacks"; EEG left sided temporal changes, hypsarrhythmia; mild hypotonia, spasticity; No; MRI brain 2y-normal; mild supratentorial volume loss, significant cerebellar volume loss; long, down-slanting palpebral fissures, epicanthal folds, ectropion bilaterally, long lashes, medially sparse but well- arched eyebrows, depressed nasal bridge, pointed chin, tapered fingers, fetal pads; no hearing loss; nystagmus, cortical visual impairment; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, G-tube in place, frequent vomiting; cryptorchidism; inverted nipple, sacral dimple; normal endocrine system; <3y-poor sleeper; Parents noted he is quite sweaty, social (laughs, smiles) 1 1 Johan den Dunnen
00440627 Pat17 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - PVNH no microcephaly; no growth delay; motor delay; 24m-walk; speech delay, 18m-first words; mild intellectual disability; attention deficit hyperactivity disorder, autism, irritability and aggression, impulsive behaviors; 6m-febrile seizure, 7y-nonfebrile seizure; EEG presence of intermittent generalized slowing; no hypotonia, no spasticity, no ataxia; No; MRI brain 8y-normal; significant cerebellar volume loss; 1.9mm pineal region cysts; dental malocclusion, high arched palate, pes planus; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Tonsilectomy due to frequest choking episodes. 1 1 Johan den Dunnen
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