All individuals with variants in gene EIF4A2

15 entries on 1 page. Showing entries 1 - 15.
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00428062 Pat1 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents F - France Europe - - - - NDD brith at term, weight 3.3 kg, length 50 cm, OFC 33.5 cm; delayed speech development; normal gross motor development; delayed fine motor milestones; global developmental delay, borderline/mild intellectual disability (IQ 78); no seizures; no autism; no hypotonia; MRI brain normal; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; epicanthal folds, small ears, anteverted nares, small mouth; no congenital anomalies 1 1 Johan den Dunnen
00428063 Pat2 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected heterozygous parents (cousins) F yes Germany Syria - - - - NDD delayed speech development; normal gross motor development; normal fine motor milestones; mild intellectual disability; no seizures; no autism; hypotonia; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; microcephaly, short stature; no congenital anomalies; ataxia 1 1 Johan den Dunnen
00428064 Pat3 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, brother with laryngomalacia and tracheomalacia F - United States Europe - - - - NDD brith 37w, weight 5 lbs 11 oz (5th%ile), length 19 inches (25th%ile), OFC 34 cm (30th%ile); normal speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay, mild intellectual disability FSIQ 87; no seizures; no autism; hypotonia; impulsivity, inattention, attention deficit and hyperactivity disorder; no failure to thrive; feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; mild synophrys, mild hirsutism on back, bilateral 5th finger clinodactyly; no congenital anomalies 1 1 Johan den Dunnen
00428065 Pat4 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 2 affected sibs, asymptomatic carrier parents M - Germany - - - - - NDD brith 38w, weight 3,160 g, length 53 cm, OFC 33.5 cm; absent speech; +, severe, does not sit; delayed fine motor milestones; severe neurodegenerative disease since infancy, severe intellectual disability, no IQ measurable; 1y-myoclonic seizures; no autism; hypotonia; MRI brain small anterior commissure, subtle interdigitation of interomedial frontal gyri, rotated small cerebellar hemispheres rotated small vermis, small pons, medulla and middle cerebellar peduncles, small rounded hippocampi, plagiocephaly, progressive mild cerebral volume loss, slightly small optic chiasm and tracts, increasing size of cisterna magna; no behavior abnormalities; early failure to thrive; feeding problems, G-tube; dysmotility, difficulty swallowing, constipation; hypoventilation; 1y-visual impairment (suspected first at 4m); bilateral deafness, deaf aid; no dysmorphic features; no congenital anomalies 2 2 Johan den Dunnen
00428066 Pat5 PubMed: Paul 2023, Journal: Paul 2023 sibling F - Germany - - - - - NDD brith 40w, weight 3,640 g, length 53 cm, OFC 34.5 cm; absent speech; delayed gross motor development; delayed fine motor milestones; severe neurodegenerative disease since infancy, severe intellectual disability, no IQ measurable; myoclonic seizures; no autism; hypotonia; MRI brain decreased volume of corpus callosum, small anterior commissure, prominent ventricles, subtle interdigitation of interomedial frontal gyri, rotated small cerebellar hemispheres rotated small vermis, small pons, medulla and middle cerebellar peduncles, small rounded hippocampi, plagiocephaly, small temporal tips, uncovered insula; no behavior abnormalities; infancy failure to thrive; feeding problems, G-tube; dysmotility, difficulty swallowing, constipation; hypoventilation, nasal cannula while asleep; 6y-blindness impairment; 1y-hearing impairment (deaf aid); no dysmorphic features, only secondary due to spasticity; no congenital anomalies; muscle biopsy high variation of the fiber size and round structures in nerve fascicles, expression of MHC-neonatal; estrogen deficiency, no menarche; 2012 skin biopsy (neuropathology Charité Berlin): suspicion of Morbus Cori (glycogenosis 3), Lafora disease (unconfirmed) 2 1 Johan den Dunnen
00428067 Pat6 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents, older sister with simple febrile seizures, otherwise healthy M - United States Europe - - - - NDD brith at term; delayed speech development; delayed gross motor development; delayed fine motor milestones; mild global developmental delay; 19m-generalized-tonic clonic seizures; no autism; hypotonia; MRI brain retrocerebellar arachnoid cysts; overly friendly in comparison with two older sisters; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; no congenital anomalies; muscle biopsy normal 1 1 Johan den Dunnen
00428068 Pat7 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - NDD brith 41w4/7, weight 2.97 kg (-0.59 SD); absent speech; delayed gross motor development; severe global developmental delay; starting at 3 months of age; epileptic spasms, tonic seizures with clonic component; no autism; hypotonia; MRI brain short corpus callosum with disproportionately small splenium; no behavior abnormalities; no failure to thrive; feeding problems, G-tube, gastroesophageal reflux; no dysmotility; no hypoventilation; cortical blindness; no hearing impairment; no dysmorphic features; no congenital anomalies; poor sleep-required melatonin and phenergen as well as trial of Chloral hydrate 1 1 Johan den Dunnen
00428069 Pat8 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents M - Israel Arab - - - - NDD brith at term, weight 3kg (50th%ile), , OFC 34 cm (50th%ile); absent speech; delayed gross motor development; severe delayed fine motor milestones; severe intellectual disability; seizures; autism; mild hypotonia; MRI brain subtle interdigitation of inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; long palpebral fissures, small hands and feet; no congenital anomalies; ataxia 1 1 Johan den Dunnen
00428070 Pat9 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents M - United States Europe - - - - NDD brith 38w6/7, weight 2,435 g (3.81%ile), length 45.7 cm (5.6%ile), OFC 34.3 cm (22.42%ile); delayed speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay; no seizures; autism; history of hypotonia, now possible hypertonia; MRI brain scattered foci of bifrontal subcortical and hazy periatrial signal abnormality, nonspecific, possible sequela of prior injury; head banging, repetitive motions; no failure to thrive; gastroesophageal reflux, history of NG after birth; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; macrocephaly, hx sagittal craniosynostosis s/p repair; congenital sagittal craniosynostosis s/p repair; sialorrhea 1 1 Johan den Dunnen
00428071 Pat10 PubMed: Paul 2023, Journal: Paul 2023 patent ductus arteriosus,siblings with ADHD, dyslexia, tics; (aternal aunt with Ccerebral palsy Iintellectual disability hydrocephalus, aeizures) M - United States Europe - - - - NDD brith 39w, weight 3.07 kg (28th%ile, Z score -0.58), length 53.3 cm (96th%ile, Z score +1.8), OFC 35 cm (66th%ile, Z score +0.42); delayed speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay; Lennox Gastaut syndrome with tonic seizures and atypical absence seizures; diffuse hypotonia; MRI brain decreased volume of corpus callosum, small anterior commissure, subtle interdigitation of the inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; feeding problems; dysmotility, dysphagia, constipation; no hypoventilation; bilateral exotropia; no hearing impairment; relative macrocephaly; congenital penile chordee with phimosis; episodes of dysautonomic storm 1 1 Johan den Dunnen
00428072 Pat11 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents F - Italy - - - - - NDD brith 41w, weight 2,810 g, length 49 cm, OFC 33 cm; absent speech; severe delayed gross motor development; delayed fine motor milestones; severe global developmental delay, intellectual disability; severe seizures present in infancy, sitting position never acquired; no autism; severe hypotonia in infancy, sitting position never acquired; MRI brain thinned corpus callosum, enlarged lateral and 3rd ventricles; very limited interactions; failure to thrive; feeding problems, G-tube; feeding difficulties, dysphagia; no hypoventilation; central blindness; no hearing impairment; microcephaly; no congenital anomalies; muscle biopsy normal 1 1 Johan den Dunnen
00428073 Pat12 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents M - United States Europe - - - - NDD brith 39w+1; absent speech; delayed gross motor development; normal fine motor milestones; global developmental delay; 3y-focal seizures, well controlled; autism; central hypotonia; MRI brain normal; episodes of rage, ABA therapy; infancy failure to thrive; feeding problems, G-tube; dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; no congenital anomalies; muscle biopsy complex I defect, muscle structure normal on histochemicalanalysis and electron microscopy; severe dysautonomia (severe GI dysmotility, heart rate, temperature dysregulation), migraine headaches; episodic elevation of NH4 and ALT levels 1 1 Johan den Dunnen
00428074 Pat13 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents (father 5y-patent ductus arteriosus) M - Lithuania - - - - - NDD brith 37w, weight 2,660 g, length 48 cm; delayed speech development; delayed gross motor development; delayed fine motor milestones; severe global developmental delay; seizures, West syndrome (infantile spasms, onset 6months); no autism; hypotonia; MRI brain small temporal tips and uncovered insula, decreased volume but fully formed corpus callosum, small anterior commissure, decreased cerebral volume predominantly white matter and most prominent right greater than left frontal lobe and peritrigonal regions with probably secondary decreased thalamic and cerebral peduncle volume, gliosis in the occipital periventricular white matter, interdigitation of the inferomedial frontal gyri, small fornices, small optic nerves, chiasm and tracts, mildly rotated, slightly small vermis, mild prominence of the cerebellar and vermian fissures suggesting gray matter volume loss, small pons, medulla and middle cerebellar peduncles; no behavior abnormalities; no failure to thrive; feeding problems, G-tube; no dysmotility; hypoventilation, tracheostomy in place; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; congenital patent ductus arteriosu s/p closure; type I and II atrophic myocytes, ∼80% of myocytes express lipid globules compilations 1 1 Johan den Dunnen
00428075 Pat14 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non-consanguineous parents, both have mild learning difficuties, maternal dyslexia, strong maternal Fhx of epilepsy F - United Kingdom (Great Britain) - - - - - NDD brith at term; absent speech; delayed gross motor development; normal fine motor milestones; severe global developmental delay; 5m-infantile spasms, myoclonic seizures, diagnosed with West syndrome, now with tonic, focal, gelastic, and absence seizures and diagnosed with Lennox-Gastaut syndrome; no autism; hypotonia in infancy, now with hypertonia of extremities; MRI brain normal; unsettled behavioral episodes; no failure to thrive; feeding problems; dysmotility, dysphagia, constipation; no hypoventilation; no vision/eye abnormalities; no hearing impairment; micrognathia, bilaterally inverted nipples; no congenital anomalies 1 1 Johan den Dunnen
00428076 Pat15 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents M - Italy - - - - - NDD birth weight 3,160 g, length 50 cm, OFC 34 cm; absent speech; delayed gross motor development, spastic tetraparesis; delayed fine motor milestones; intellectual disability; seizures, EEG birth showed pathological electrical activity; no autism; severe hypotonia; MRI brain hypoplastic cerebellar vermis, thin corpus callosum, hypoplastic pons; no failure to thrive; feeding problems, no suckling reflex, G-/J-tubes; no dysmotility; hypoventilation, tracheostomy; cortical blindness; no hearing impairment; epicanthus, upslanting palpebral fissures, broad nasal root, short philtrum, curved upper lip; congenital ostium secundum atrial septal defect; osteopenia 1 1 Johan den Dunnen
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